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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002-. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="Table of Contents Page" href="/books/n/pdqcis/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-pdqcis-lrg.png" alt="Cover of PDQ Cancer Information Summaries" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>PDQ Cancer Information Summaries [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK606140_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK606140_dtls__"><div>Bethesda (MD): <a href="http://www.cancer.gov/" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">National Cancer Institute (US)</a>; 2002-.</div></div><div class="half_rhythm"></div><div class="bk_noprnt"><form method="get" action="/books/n/pdqcis/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search this book" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search this book" submit="false" style="padding: 0.1em 0.4em;" /></div></form></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK606140_"><span class="title" itemprop="name">GATA2 Deficiency Syndrome (PDQ®)</span></h1><div class="subtitle whole_rhythm">Health Professional Version</div><p class="contrib-group"><span itemprop="author">PDQ Cancer Genetics Editorial Board</span>.</p><p class="small">Published online: August 13, 2024.</p><p class="small">Created: <span itemprop="datePublished">August 13, 2024</span>.</p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="_abs_rndgid_" itemprop="description"><p id="CDR0000814082__2824">This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the genetics of GATA2 deficiency syndrome. It is intended as a resource to inform and assist clinicians in the care of their patients. It does not provide formal guidelines or recommendations for making health care decisions.</p><p id="CDR0000814082__2825">This summary is reviewed regularly and updated as necessary by the PDQ Cancer Genetics Editorial Board, which is editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH).</p></div><div id="CDR0000814082__3752"><h2 id="_CDR0000814082__3752_">Introduction to GATA2 Deficiency Syndrome</h2><p id="CDR0000814082__3753">Germline loss-of-function variants in the master hematopoietic <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000390290/" class="def">transcription</a> factor, <i>GATA2</i>, can cause cellular deficiencies that have a high propensity to develop into myeloid malignancies. Initial reports identified GATA2 deficiency in cohorts of patients with the following conditions: </p><ul id="CDR0000814082__3760"><li class="half_rhythm"><div><a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460148/" class="def">Familial</a> myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML).[<a class="bk_pop" href="#CDR0000814082_rl_3752_1">1</a>]</div></li><li class="half_rhythm"><div><a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000793860/" class="def">Autosomal dominant</a> and sporadic monocytopenias and mycobacterial infection (MonoMAC) syndrome.[<a class="bk_pop" href="#CDR0000814082_rl_3752_2">2</a>]</div></li><li class="half_rhythm"><div><b>D</b>endritic <b>c</b>ell, <b>m</b>onocyte, and B and natural killer (NK) <b>l</b>ymphoid (DCML) deficiency.[<a class="bk_pop" href="#CDR0000814082_rl_3752_3">3</a>]</div></li><li class="half_rhythm"><div>Lymphedema and anogenital dysplasia (WILD) syndrome.[<a class="bk_pop" href="#CDR0000814082_rl_3752_4">4</a>]</div></li><li class="half_rhythm"><div>Primary lymphedema associated with a predisposition to AML (Emberger syndrome).[<a class="bk_pop" href="#CDR0000814082_rl_3752_5">5</a>]</div></li><li class="half_rhythm"><div>Unexplained chronic neutropenia.[<a class="bk_pop" href="#CDR0000814082_rl_3752_6">6</a>]</div></li><li class="half_rhythm"><div>Primary childhood MDS.[<a class="bk_pop" href="#CDR0000814082_rl_3752_7">7</a>]</div></li></ul><p id="CDR0000814082__3761">Following these initial reports, it became well accepted that all of these clinical phenotypes represent the broad spectrum of GATA2 deficiency, a single genetic disease.</p><div id="CDR0000814082_rl_3752"><h3>References</h3><ol><li><div class="bk_ref" id="CDR0000814082_rl_3752_1">Hahn CN, Chong CE, Carmichael CL, et al.: Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet 43 (10): 1012-7, 2011. [<a href="/pmc/articles/PMC3184204/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3184204</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21892162" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21892162</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3752_2">Hsu AP, Sampaio EP, Khan J, et al.: Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 118 (10): 2653-5, 2011. [<a href="/pmc/articles/PMC3172785/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3172785</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21670465" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21670465</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3752_3">Dickinson RE, Griffin H, Bigley V, et al.: Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 118 (10): 2656-8, 2011. [<a href="/pmc/articles/PMC5137783/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5137783</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21765025" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21765025</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3752_4">Dorn JM, Patnaik MS, Van Hee M, et al.: WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 gene. J Allergy Clin Immunol Pract 5 (4): 1149-1152.e1, 2017 Jul - Aug. [<a href="https://pubmed.ncbi.nlm.nih.gov/28373026" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28373026</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3752_5">Ostergaard P, Simpson MA, Connell FC, et al.: Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet 43 (10): 929-31, 2011. [<a href="https://pubmed.ncbi.nlm.nih.gov/21892158" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21892158</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3752_6">Pasquet M, Bellanné-Chantelot C, Tavitian S, et al.: High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood 121 (5): 822-9, 2013. [<a href="/pmc/articles/PMC3714670/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3714670</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23223431" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23223431</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3752_7">Wlodarski MW, Hirabayashi S, Pastor V, et al.: Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood 127 (11): 1387-97; quiz 1518, 2016. [<a href="https://pubmed.ncbi.nlm.nih.gov/26702063" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26702063</span></a>]</div></li></ol></div></div><div id="CDR0000814082__3754"><h2 id="_CDR0000814082__3754_">Genetics and Molecular Biology of GATA2 Deficiency Syndrome</h2><p id="CDR0000814082__3755">GATA2 deficiency is caused by <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783882/" class="def">de novo</a> or inherited, heterozygous, <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460154/" class="def">germline</a>
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<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783960/" class="def">pathogenic variants</a> in the <i>GATA2</i>
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<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000045693/" class="def">gene</a>, which result in a loss of GATA2 expression or abnormal GATA2 transcription factor function.[<a class="bk_pop" href="#CDR0000814082_rl_3754_1">1</a>] Most patients with GATA2 deficiency carry null <i>GATA2</i> variants (i.e., <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783968/" class="def">splice-site variants</a>, <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783965/" class="def">nonsense variants</a>, <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783963/" class="def">frameshift variants</a>, whole-gene <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460141/" class="def">deletions</a>, or synonymous variants that affect <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460220/" class="def">RNA splicing</a>) or <i>GATA2</i>
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<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783964/" class="def">missense variants</a> that affect the zinc finger 2 <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460145/" class="def">domain</a>. Approximately 1% of patients have noncoding substitutions in the EBOX-GATA-ETS enhancer element in <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000660737/" class="def">intron</a> 4 of <i>GATA2</i>, or occasionally, tandem duplications of the entire <i>GATA2</i>
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<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460162/" class="def">locus</a>.[<a class="bk_pop" href="#CDR0000814082_rl_3754_1">1</a>,<a class="bk_pop" href="#CDR0000814082_rl_3754_2">2</a>]</p><p id="CDR0000814082__3762"><a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000339331/" class="def">Variable expressivity</a> is common in GATA2 deficiency. Some patients present early in life with one of the following: 1) cytopenias and bone marrow failure that progress to myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML), or 2) severe immunodeficiency with recurrent bacterial, viral, and fungal infections.[<a class="bk_pop" href="#CDR0000814082_rl_3754_3">3</a>-<a class="bk_pop" href="#CDR0000814082_rl_3754_9">9</a>] Other patients with GATA2 deficiency develop MDS with excess blasts without preexisting clinical features.[<a class="bk_pop" href="#CDR0000814082_rl_3754_10">10</a>-<a class="bk_pop" href="#CDR0000814082_rl_3754_12">12</a>] Immunodeficiency is common in patients with GATA2 deficiency and manifests with mycobacterial infections, human papillomavirus (HPV) infections (i.e., generalized warts, intraepithelial neoplasia), Epstein-Barr virus (EBV)–related disease, herpes virus–related disease, and fungal infections. Some patients may also develop pulmonary disease (anti-granulocyte–macrophage colony stimulating factor [GM-CSF] antibody-negative pulmonary alveolar proteinosis), thrombosis, and autoimmune features like autoimmune cytopenias, hepatitis, colitis, panniculitis, and arthritis. Immunological laboratory findings can include deficiencies of the following: dendritic cells, monocytes, transitional B cells, and natural killer cells. Patients with GATA2 deficiency can also have inverted CD4:CD8 ratios and hypogammaglobulinemia. Loss of B cells and their precursors was shown to be the most common feature in GATA2-deficient patients with MDS.[<a class="bk_pop" href="#CDR0000814082_rl_3754_12">12</a>] Although not all patients with GATA2 deficiency present with immunological changes, a history of immunodeficiency in a patient with MDS/AML may be a strong indicator that a germline <i>GATA2</i> pathogenic variant is present.[<a class="bk_pop" href="#CDR0000814082_rl_3754_3">3</a>,<a class="bk_pop" href="#CDR0000814082_rl_3754_8">8</a>,<a class="bk_pop" href="#CDR0000814082_rl_3754_13">13</a>]</p><div id="CDR0000814082_rl_3754"><h3>References</h3><ol><li><div class="bk_ref" id="CDR0000814082_rl_3754_1">Homan CC, Venugopal P, Arts P, et al.: GATA2 deficiency syndrome: A decade of discovery. Hum Mutat 42 (11): 1399-1421, 2021. [<a href="/pmc/articles/PMC9291163/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9291163</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34387894" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34387894</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_2">Singh P, Heer M, Resteu A, et al.: GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1. Blood Adv 5 (24): 5631-5635, 2021. [<a href="/pmc/articles/PMC8714714/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8714714</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34638133" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34638133</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_3">Hsu AP, Sampaio EP, Khan J, et al.: Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 118 (10): 2653-5, 2011. [<a href="/pmc/articles/PMC3172785/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3172785</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21670465" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21670465</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_4">Pasquet M, Bellanné-Chantelot C, Tavitian S, et al.: High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood 121 (5): 822-9, 2013. [<a href="/pmc/articles/PMC3714670/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3714670</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23223431" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23223431</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_5">Dickinson RE, Milne P, Jardine L, et al.: The evolution of cellular deficiency in GATA2 mutation. Blood 123 (6): 863-74, 2014. [<a href="/pmc/articles/PMC3916878/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3916878</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24345756" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24345756</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_6">Kazenwadel J, Secker GA, Liu YJ, et al.: Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood 119 (5): 1283-91, 2012. [<a href="/pmc/articles/PMC3277359/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3277359</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22147895" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22147895</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_7">Mir MA, Kochuparambil ST, Abraham RS, et al.: Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. Cancer Med 4 (4): 490-9, 2015. [<a href="/pmc/articles/PMC4402062/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4402062</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25619630" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25619630</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_8">Calvo KR, Vinh DC, Maric I, et al.: Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica 96 (8): 1221-5, 2011. [<a href="/pmc/articles/PMC3148917/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3148917</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21508125" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21508125</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_9">Ganapathi KA, Townsley DM, Hsu AP, et al.: GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. Blood 125 (1): 56-70, 2015. [<a href="/pmc/articles/PMC4281830/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4281830</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25359990" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25359990</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_10">Hahn CN, Chong CE, Carmichael CL, et al.: Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet 43 (10): 1012-7, 2011. [<a href="/pmc/articles/PMC3184204/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3184204</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21892162" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21892162</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_11">Wlodarski MW, Hirabayashi S, Pastor V, et al.: Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood 127 (11): 1387-97; quiz 1518, 2016. [<a href="https://pubmed.ncbi.nlm.nih.gov/26702063" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26702063</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_12">Nováková M, Žaliová M, Suková M, et al.: Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome. Haematologica 101 (6): 707-16, 2016. [<a href="/pmc/articles/PMC5013954/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5013954</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27013649" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27013649</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3754_13">Dickinson RE, Griffin H, Bigley V, et al.: Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 118 (10): 2656-8, 2011. [<a href="/pmc/articles/PMC5137783/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5137783</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21765025" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21765025</span></a>]</div></li></ol></div></div><div id="CDR0000814082__3756"><h2 id="_CDR0000814082__3756_">Clinical Phenotypes in GATA2 Deficiency Syndrome</h2><p id="CDR0000814082__3757">Approximately half of reported patients with <i>GATA2</i>
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<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783960/" class="def">pathogenic variants</a> have constitutional features of GATA2 deficiency. Constitutional features of GATA2 deficiency include the following:[<a class="bk_pop" href="#CDR0000814082_rl_3756_1">1</a>,<a class="bk_pop" href="#CDR0000814082_rl_3756_2">2</a>]</p><ul id="CDR0000814082__3763"><li class="half_rhythm"><div><a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460137/" class="def">Congenital</a> sensorineural deafness.</div></li><li class="half_rhythm"><div>Lymphedema.</div></li><li class="half_rhythm"><div>Hydrocele.</div></li><li class="half_rhythm"><div>Urogenital malformations.</div></li><li class="half_rhythm"><div>Attention deficit hyperactivity disorder (ADHD) spectrum disorders.</div></li></ul><p id="CDR0000814082__3764">GATA2 deficiency prevalence is dependent upon several factors, including a patient's age and clinical manifestations. A myelodysplastic syndrome (MDS) cohort study estimated that <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460154/" class="def">germline</a>
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<i>GATA2</i> pathogenic variants were present in approximately 0.5% of adults and 7% of children.[<a class="bk_pop" href="#CDR0000814082_rl_3756_1">1</a>] Commonly acquired genetic lesions in GATA2 deficiency-related MDS include the following:[<a class="bk_pop" href="#CDR0000814082_rl_3756_3">3</a>-<a class="bk_pop" href="#CDR0000814082_rl_3756_8">8</a>] </p><ul id="CDR0000814082__3765"><li class="half_rhythm"><div>Abnormal karyotypes (monosomy 7, der(1;7) <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000470251/" class="def">translocation</a>, and <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460223/" class="def">trisomy</a> 8).</div></li><li class="half_rhythm"><div>Somatic variants, particularly in the <i>ASXL1</i>, <i>SETBP1</i>, <i>STAG2</i>, and <i>RUNX1</i>
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<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000045693/" class="def">genes</a>.</div></li></ul><p id="CDR0000814082__3766">In children with GATA2-related MDS, monosomy 7 has been reported in up to 70% to 80% of cases. However, in adults, the frequencies of both trisomy 8 and monosomy 7 were approximately 20% to 40%.[<a class="bk_pop" href="#CDR0000814082_rl_3756_9">9</a>] It is recommended that monosomy 7 in a young patient trigger <i>GATA2</i> germline testing, since up to 72% of adolescents with an MDS diagnosis and monosomy 7 carry germline <i>GATA2</i> pathogenic variants.[<a class="bk_pop" href="#CDR0000814082_rl_3756_1">1</a>] The der (1;7) <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000046470/" class="def">chromosomal</a> abnormality is a <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000270737/" class="def">cytogenetic</a> lesion that is also enriched in patients with GATA2 deficiency.[<a class="bk_pop" href="#CDR0000814082_rl_3756_10">10</a>]</p><p id="CDR0000814082__3767">The lifetime risk of developing myeloid neoplasms (MDS, myeloproliferative neoplasms, acute myeloid leukemia [AML]) is very high in individuals with GATA2 deficiency. The median age of myeloid neoplasm diagnosis was estimated to be 12 years in pediatric cohorts [<a class="bk_pop" href="#CDR0000814082_rl_3756_1">1</a>] and 35 years in adult cohorts.[<a class="bk_pop" href="#CDR0000814082_rl_3756_5">5</a>] Consolidated data from several studies suggest that the average age of myeloid neoplasm diagnosis was 20 years,[<a class="bk_pop" href="#CDR0000814082_rl_3756_9">9</a>] and the median age of diagnosis is 17 years (range, 0–78 y).[<a class="bk_pop" href="#CDR0000814082_rl_3756_11">11</a>] Infants and young children are typically not affected with myeloid malignancy or clinically relevant immunodeficiencies. However, these symptoms can manifest as early as age 4 to 5 years.[<a class="bk_pop" href="#CDR0000814082_rl_3756_1">1</a>] The lifetime <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000339344/" class="def">penetrance</a> of GATA2 deficiency is high (estimated as >80%), and thus far, only a small proportion of <i>GATA2</i> carriers reported not having symptoms. </p><p id="CDR0000814082__3768"><a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000660739/" class="def">Genotype</a>/<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460203/" class="def">phenotype</a> correlative studies found that lymphedema is associated with <i>GATA2</i> null pathogenic variants.[<a class="bk_pop" href="#CDR0000814082_rl_3756_11">11</a>] However, correlations between <i>GATA2</i> variant type and hematopoietic malignancy development have not yet been established. Additional research is required to investigate whether different types of <i>GATA2</i> variants have differing penetrance rates.</p><div id="CDR0000814082_rl_3756"><h3>References</h3><ol><li><div class="bk_ref" id="CDR0000814082_rl_3756_1">Wlodarski MW, Hirabayashi S, Pastor V, et al.: Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood 127 (11): 1387-97; quiz 1518, 2016. [<a href="https://pubmed.ncbi.nlm.nih.gov/26702063" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26702063</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3756_2">Spinner MA, Sanchez LA, Hsu AP, et al.: GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood 123 (6): 809-21, 2014. [<a href="/pmc/articles/PMC3916876/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3916876</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24227816" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24227816</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3756_3">Homan CC, Drazer MW, Yu K, et al.: Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41. Blood Adv 7 (20): 6092-6107, 2023. [<a href="/pmc/articles/PMC10582382/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC10582382</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/37406166" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 37406166</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3756_4">Largeaud L, Collin M, Monselet N, et al.: Somatic genetic alterations predict hematological progression in GATA2 deficiency. Haematologica 108 (6): 1515-1529, 2023. [<a href="/pmc/articles/PMC10230419/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC10230419</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/36727400" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36727400</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3756_5">West RR, Hsu AP, Holland SM, et al.: Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. Haematologica 99 (2): 276-81, 2014. [<a href="/pmc/articles/PMC3912957/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3912957</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24077845" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24077845</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3756_6">Pastor V, Hirabayashi S, Karow A, et al.: Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants. Leukemia 31 (3): 759-762, 2017. [<a href="https://pubmed.ncbi.nlm.nih.gov/27876779" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27876779</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3756_7">Fisher KE, Hsu AP, Williams CL, et al.: Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency. Blood Adv 1 (7): 443-448, 2017. [<a href="/pmc/articles/PMC5738979/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5738979</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29296959" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29296959</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3756_8">McReynolds LJ, Yang Y, Yuen Wong H, et al.: MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations. Leuk Res 76: 70-75, 2019. [<a href="/pmc/articles/PMC6340496/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6340496</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30578959" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30578959</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3756_9">Wlodarski MW, Collin M, Horwitz MS: GATA2 deficiency and related myeloid neoplasms. Semin Hematol 54 (2): 81-86, 2017. [<a href="/pmc/articles/PMC5650112/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5650112</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28637621" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28637621</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3756_10">Kozyra EJ, Göhring G, Hickstein DD, et al.: Association of unbalanced translocation der(1;7) with germline GATA2 mutations. Blood 138 (23): 2441-2445, 2021. [<a href="/pmc/articles/PMC8662074/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8662074</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34469508" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34469508</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3756_11">Homan CC, Venugopal P, Arts P, et al.: GATA2 deficiency syndrome: A decade of discovery. Hum Mutat 42 (11): 1399-1421, 2021. [<a href="/pmc/articles/PMC9291163/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9291163</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34387894" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34387894</span></a>]</div></li></ol></div></div><div id="CDR0000814082__3758"><h2 id="_CDR0000814082__3758_">Management and Prognosis for GATA2 Deficiency Syndrome</h2><p id="CDR0000814082__3759">Consensus guidelines on the management of GATA2 deficiency do not yet exist, and hence, <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000496506/" class="def">surveillance</a> strategies are individually tailored for each patient. Most patients are followed by hematologists, immunologists, or transplant physicians. General GATA2 deficiency management recommendations include the following: periodic analysis of peripheral blood counts and immune status, yearly bone marrow evaluation with <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000270737/" class="def">cytogenetics</a> and somatic variant testing, and <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000046171/" class="def">screening</a> for human papillomavirus (HPV)–related cancers.[<a class="bk_pop" href="#CDR0000814082_rl_3758_1">1</a>,<a class="bk_pop" href="#CDR0000814082_rl_3758_2">2</a>] Patients with severe cellular deficiencies may require antimicrobial prophylaxis.[<a class="bk_pop" href="#CDR0000814082_rl_3758_3">3</a>] Due to the risk of clonal evolution, treatment with granulocyte colony-stimulating factor (G-CSF) is generally avoided in neutropenic patients with GATA2 deficiency.</p><p id="CDR0000814082__3769">It is widely accepted that timely hematopoietic stem cell transplantation (HSCT) is the only curative approach for symptomatic GATA2-deficient patients. HSCT outcomes are influenced by several patient factors, including myelodysplastic syndrome (MDS) subtype and the presence of a preexisting immunodeficiency. Overall survival (OS) rates for patients who underwent HSCT for various indications were reported as follows: 54% for MDS/acute myeloid leukemia (AML) or immunodeficiency,[<a class="bk_pop" href="#CDR0000814082_rl_3758_4">4</a>] 66% in children with MDS and monosomy 7,[<a class="bk_pop" href="#CDR0000814082_rl_3758_5">5</a>] 88% in children with refractory cytopenia of childhood (RCC) and normal karyotypes,[<a class="bk_pop" href="#CDR0000814082_rl_3758_6">6</a>] and 86% in young adults with immunodeficiency.[<a class="bk_pop" href="#CDR0000814082_rl_3758_7">7</a>] Difficulty in predicting the disease’s course complicates decision making regarding the optimal timing of HSCT. In 2021, researchers examined HSCT outcomes in 65 patients with GATA2-related MDS.[<a class="bk_pop" href="#CDR0000814082_rl_3758_8">8</a>] Five years after HSCT, the probability of OS and disease-free survival (DFS) was 75% and 70%, respectively. Nonrelapse mortality and relapse equally contributed to treatment failure. There was no evidence of increased graft-versus-host-disease incidence, excessive rates of infections, or organ toxicities. Advanced MDS and monosomy 7 were associated with worse outcomes. Patients who had RCC with normal karyotypes had better outcomes (DFS rate, 90%) when compared with those who had RCC and monosomy 7 (DFS rate, 67%). </p><p id="CDR0000814082__3770">HSCT is indicated in GATA2-deficient patients with the following: recurrent infections, transfusion dependency, or clonal evolution into a myeloid malignancy.[<a class="bk_pop" href="#CDR0000814082_rl_3758_9">9</a>-<a class="bk_pop" href="#CDR0000814082_rl_3758_11">11</a>] Several cases of donor-derived MDS/AML have been reported after HSCT in families with GATA2 deficiency.[<a class="bk_pop" href="#CDR0000814082_rl_3758_12">12</a>,<a class="bk_pop" href="#CDR0000814082_rl_3758_13">13</a>] This emphasizes the need for <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000044961/" class="def">genetic counseling</a>, assessment for the presence of GATA2-specific clinical features, and genetic testing in potential <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460148/" class="def">familial</a> donors.</p><div id="CDR0000814082_rl_3758"><h3>References</h3><ol><li><div class="bk_ref" id="CDR0000814082_rl_3758_1">Collin M, Dickinson R, Bigley V: Haematopoietic and immune defects associated with GATA2 mutation. Br J Haematol 169 (2): 173-87, 2015. [<a href="/pmc/articles/PMC4409096/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4409096</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25707267" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25707267</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_2">Davies SM: Monitoring and treatment of MDS in genetically susceptible persons. Hematology Am Soc Hematol Educ Program 2019 (1): 105-109, 2019. [<a href="/pmc/articles/PMC6913506/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6913506</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31808891" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31808891</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_3">Hsu AP, McReynolds LJ, Holland SM: GATA2 deficiency. Curr Opin Allergy Clin Immunol 15 (1): 104-9, 2015. [<a href="/pmc/articles/PMC4342850/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4342850</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25397911" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25397911</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_4">Spinner MA, Sanchez LA, Hsu AP, et al.: GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood 123 (6): 809-21, 2014. [<a href="/pmc/articles/PMC3916876/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3916876</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24227816" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24227816</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_5">Wlodarski MW, Hirabayashi S, Pastor V, et al.: Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood 127 (11): 1387-97; quiz 1518, 2016. [<a href="https://pubmed.ncbi.nlm.nih.gov/26702063" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26702063</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_6">Sahoo SS, Pastor VB, Goodings C, et al.: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes. Nat Med 27 (10): 1806-1817, 2021. [<a href="/pmc/articles/PMC9330547/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9330547</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34621053" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34621053</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_7">Parta M, Shah NN, Baird K, et al.: Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen. Biol Blood Marrow Transplant 24 (6): 1250-1259, 2018. [<a href="/pmc/articles/PMC5993597/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5993597</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29412158" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29412158</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_8">Bortnick R, Wlodarski M, de Haas V, et al.: Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome. Bone Marrow Transplant 56 (11): 2732-2741, 2021. [<a href="/pmc/articles/PMC8563415/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8563415</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34244664" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34244664</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_9">Förster A, Davenport C, Duployez N, et al.: European standard clinical practice - Key issues for the medical care of individuals with familial leukemia. Eur J Med Genet 66 (4): 104727, 2023. [<a href="https://pubmed.ncbi.nlm.nih.gov/36775010" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36775010</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_10">Clark A, Thomas S, Hamblin A, et al.: Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT). Br J Haematol 201 (1): 35-44, 2023. [<a href="https://pubmed.ncbi.nlm.nih.gov/36786081" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36786081</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_11">Parta M, Cole K, Avila D, et al.: Hematopoietic Cell Transplantation and Outcomes Related to Human Papillomavirus Disease in GATA2 Deficiency. Transplant Cell Ther 27 (5): 435.e1-435.e11, 2021. [<a href="/pmc/articles/PMC9827722/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9827722</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33965189" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33965189</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_12">Galera P, Hsu AP, Wang W, et al.: Donor-derived MDS/AML in families with germline GATA2 mutation. Blood 132 (18): 1994-1998, 2018. [<a href="/pmc/articles/PMC6213320/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6213320</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30232126" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30232126</span></a>]</div></li><li><div class="bk_ref" id="CDR0000814082_rl_3758_13">Sakata N, Okano M, Masako R, et al.: Donor-derived myelodysplastic syndrome after allogeneic stem cell transplantation in a family with germline GATA2 mutation. Int J Hematol 113 (2): 290-296, 2021. [<a href="https://pubmed.ncbi.nlm.nih.gov/32865708" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32865708</span></a>]</div></li></ol></div></div><div id="CDR0000814082__3751"><h2 id="_CDR0000814082__3751_">Latest Updates to this Summary (08/13/2024)</h2><p id="CDR0000814082__1182">The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.</p><p id="CDR0000814082__3750">This is a new summary.</p><p id="CDR0000814082__disclaimerHP_3">This summary is written and maintained by the <a href="https://www.cancer.gov/publications/pdq/editorial-boards/genetics" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PDQ Cancer Genetics Editorial Board</a>, which is
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editorially independent of NCI. The summary reflects an independent review of
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the literature and does not represent a policy statement of NCI or NIH. More
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information about summary policies and the role of the PDQ Editorial Boards in
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maintaining the PDQ summaries can be found on the <a href="#CDR0000814082__AboutThis_1">About This PDQ Summary</a> and <a href="https://www.cancer.gov/publications/pdq" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PDQ® Cancer Information for Health Professionals</a> pages.
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</p></div><div id="CDR0000814082__AboutThis_1"><h2 id="_CDR0000814082__AboutThis_1_">About This PDQ Summary</h2><div id="CDR0000814082__AboutThis_2"><h3>Purpose of This Summary</h3><p id="CDR0000814082__AboutThis_3">This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about GATA2 deficiency syndrome. It is intended as a resource to inform and assist clinicians in the care of their patients. It does not provide formal guidelines or recommendations for making health care decisions.</p></div><div id="CDR0000814082__AboutThis_4"><h3>Reviewers and Updates</h3><p id="CDR0000814082__AboutThis_5">This summary is reviewed regularly and updated as necessary by the <a href="https://www.cancer.gov/publications/pdq/editorial-boards/genetics" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PDQ Cancer Genetics Editorial Board</a>, which is editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH).</p><p id="CDR0000814082__AboutThis_22"> Board members review recently published articles each month to determine whether an article should:</p><ul id="CDR0000814082__AboutThis_6"><li class="half_rhythm"><div>be discussed at a meeting,</div></li><li class="half_rhythm"><div>be cited with text, or</div></li><li class="half_rhythm"><div>replace or update an existing article that is already cited.</div></li></ul><p id="CDR0000814082__AboutThis_7">Changes to the summaries are made through a consensus process in which Board members evaluate the strength of the evidence in the published articles and determine how the article should be included in the summary.</p><p>The lead reviewers for GATA2 Deficiency Syndrome are:</p><ul><li class="half_rhythm"><div>Julia Cooper, MS, CGC (Ohio State University)</div></li><li class="half_rhythm"><div>Courtney DiNardo, MD, MSC (University of Texas, M.D. Anderson Cancer Center)</div></li><li class="half_rhythm"><div>Marcin Wlodarski, MD, PhD (St. Jude Children's Research Hospital)</div></li></ul><p id="CDR0000814082__AboutThis_9">Any comments or questions about the summary content should be submitted to Cancer.gov through the NCI website's <a href="https://www.cancer.gov/contact/email-us" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Email Us</a>. Do not contact the individual Board Members with questions or comments about the summaries. Board members will not respond to individual inquiries.</p></div><div id="CDR0000814082__AboutThis_10"><h3>Levels of Evidence</h3><p id="CDR0000814082__AboutThis_11">Some of the reference citations in this summary are accompanied by a level-of-evidence designation. These designations are intended to help readers assess the strength of the evidence supporting the use of specific interventions or approaches. The PDQ Cancer Genetics Editorial Board uses a <a href="/books/n/pdqcis/CDR0000685387/">formal evidence ranking system</a> in developing its level-of-evidence designations.</p></div><div id="CDR0000814082__AboutThis_12"><h3>Permission to Use This Summary</h3><p id="CDR0000814082__AboutThis_13">PDQ is a registered trademark. Although the content of PDQ documents can be used freely as text, it cannot be identified as an NCI PDQ cancer information summary unless it is presented in its entirety and is regularly updated. However, an author would be permitted to write a sentence such as “NCI’s PDQ cancer information summary about breast cancer prevention states the risks succinctly: [include excerpt from the summary].”</p><p id="CDR0000814082__AboutThis_14">The preferred citation for this PDQ summary is:</p><p id="CDR0000814082__AboutThis_15">PDQ® Cancer Genetics Editorial Board. PDQ GATA2 Deficiency Syndrome. Bethesda, MD: National Cancer Institute. Updated <MM/DD/YYYY>. Available at: <a href="https://www.cancer.gov/publications/pdq/information-summaries/genetics/gata2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">https://www.cancer.gov/publications/pdq/information-summaries/genetics/gata2</a>. Accessed <MM/DD/YYYY>. </p><p id="CDR0000814082__AboutThis_16">Images in this summary are used with permission of the author(s), artist, and/or publisher for use within the PDQ summaries only. Permission to use images outside the context of PDQ information must be obtained from the owner(s) and cannot be granted by the National Cancer Institute. Information about using the illustrations in this summary, along with many other cancer-related images, is available in <a href="https://visualsonline.cancer.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Visuals Online</a>, a collection of over 2,000 scientific images.
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</p></div><div id="CDR0000814082__AboutThis_17"><h3>Disclaimer</h3><p id="CDR0000814082__AboutThis_19">The information in these summaries should not be used as a basis for insurance reimbursement determinations. More information on insurance coverage is available on Cancer.gov on the <a href="https://www.cancer.gov/about-cancer/managing-care" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Managing Cancer Care</a> page.</p></div><div id="CDR0000814082__AboutThis_20"><h3>Contact Us</h3><p id="CDR0000814082__AboutThis_21">More information about contacting us or receiving help with the Cancer.gov website can be found on our <a href="https://www.cancer.gov/contact" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Contact Us for Help</a> page. Questions can also be submitted to Cancer.gov through the website’s <a href="https://www.cancer.gov/contact/email-us" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Email Us</a>.</p></div></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK606140.1/?report=reader">PubReader</a></li><li><a href="/books/NBK606140.1/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK606140" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK606140" style="display:none" title="Cite this Page"><div class="bk_tt">PDQ Cancer Genetics Editorial Board. GATA2 Deficiency Syndrome (PDQ®): Health Professional Version. 2024 Aug 13. In: PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002-. <span class="bk_cite_avail"></span></div></div></li><li><a href="#" class="toggle-glossary-link" title="Enable/disable links to the glossary">Disable Glossary Links</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Version History</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter shutter_closed" title="Show/hide content" remembercollapsed="true" pgsec_name="version_history" id="Shutter"></a></div><div class="portlet_content" style="display: none;"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><span class="bk_col_itm"><a href="/books/NBK606140.2/">NBK606140.2</a></span> August 22, 2024</li><li><span class="bk_col_itm">NBK606140.1</span> August 13, 2024 (Displayed Version)</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>In this Page</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="page-toc" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="#CDR0000814082__3752" ref="log$=inpage&link_id=inpage">Introduction to GATA2 Deficiency Syndrome</a></li><li><a href="#CDR0000814082__3754" ref="log$=inpage&link_id=inpage">Genetics and Molecular Biology of GATA2 Deficiency Syndrome</a></li><li><a href="#CDR0000814082__3756" ref="log$=inpage&link_id=inpage">Clinical Phenotypes in GATA2 Deficiency Syndrome</a></li><li><a href="#CDR0000814082__3758" ref="log$=inpage&link_id=inpage">Management and Prognosis for GATA2 Deficiency Syndrome</a></li><li><a href="#CDR0000814082__3751" ref="log$=inpage&link_id=inpage">Latest Updates to this Summary (08/13/2024)</a></li><li><a href="#CDR0000814082__AboutThis_1" ref="log$=inpage&link_id=inpage">About This PDQ Summary</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related information</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pmc&DbFrom=books&Cmd=Link&LinkName=books_pmc_refs&IdsFromResult=5656632" ref="log$=recordlinks">PMC</a><div class="brieflinkpop offscreen_noflow">PubMed Central citations</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pubmed&DbFrom=books&Cmd=Link&LinkName=books_pubmed_refs&IdsFromResult=5656632" ref="log$=recordlinks">PubMed</a><div class="brieflinkpop offscreen_noflow">Links to PubMed</div></li></ul></div></div><div 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