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Trisomy 8

MedGen UID:
98158
•Concept ID:
C0432412
•
Cell or Molecular Dysfunction
Synonyms: Chromosome 8 duplication; Chromosome 8, trisomy
SNOMED CT: Trisomy 8 (205649008)
 
Monarch Initiative: MONDO:0043452

Definition

A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells. [from NCI]

Professional guidelines

PubMed

Characteristics, primary treatment, and survival of MDS/MPN with neutrophilia: a population-based study.
Klein SK, Huls GA, Visser O, Kluin-Nelemans HC, Dinmohamed AG
Blood Adv 2023 Dec 26;7(24):7554-7563. doi: 10.1182/bloodadvances.2023011181. PMID: 37934881Free PMC Article
Impact of trisomy 8 on treatment response and survival of patients with chronic myelogenous leukemia in the era of tyrosine kinase inhibitors.
Wang W, Cortes JE, Lin P, Khoury JD, Ai D, Tang Z, Tang G, Jorgensen JL, Medeiros LJ, Hu S
Leukemia 2015 Nov;29(11):2263-6. Epub 2015 Apr 14 doi: 10.1038/leu.2015.96. PMID: 25931274
Diagnosis and management of intestinal Behçet's disease.
Hisamatsu T, Naganuma M, Matsuoka K, Kanai T
Clin J Gastroenterol 2014 Jun;7(3):205-12. Epub 2014 Apr 20 doi: 10.1007/s12328-014-0488-0. PMID: 24883128Free PMC Article

Recent clinical studies

Etiology

Trisomy 8 in acute myeloid leukemia.
Hemsing AL, Hovland R, Tsykunova G, Reikvam H
Expert Rev Hematol 2019 Nov;12(11):947-958. Epub 2019 Sep 26 doi: 10.1080/17474086.2019.1657400. PMID: 31422708
Genetic abnormalities and pathophysiology of MDS.
Hosono N
Int J Clin Oncol 2019 Aug;24(8):885-892. Epub 2019 May 15 doi: 10.1007/s10147-019-01462-6. PMID: 31093808
Heterogeneity of GATA2-related myeloid neoplasms.
Hirabayashi S, Wlodarski MW, Kozyra E, Niemeyer CM
Int J Hematol 2017 Aug;106(2):175-182. Epub 2017 Jun 22 doi: 10.1007/s12185-017-2285-2. PMID: 28643018
Childhood myelodysplastic syndrome.
Chatterjee T, Choudhry VP
Indian J Pediatr 2013 Sep;80(9):764-71. Epub 2013 Aug 3 doi: 10.1007/s12098-013-1130-8. PMID: 23912822
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR
Best Pract Res Clin Haematol 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153. PMID: 11640868

Diagnosis

Hepatosplenic T-cell lymphoma: a rare but challenging entity.
Pro B, Allen P, Behdad A
Blood 2020 Oct 29;136(18):2018-2026. doi: 10.1182/blood.2019004118. PMID: 32756940Free PMC Article
Myeloid Sarcoma.
Magdy M, Abdel Karim N, Eldessouki I, Gaber O, Rahouma M, Ghareeb M
Oncol Res Treat 2019;42(4):224-229. Epub 2019 Mar 6 doi: 10.1159/000497210. PMID: 30840960
Aplastic anemia: Etiology, molecular pathogenesis, and emerging concepts.
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Dec;101(6):711-720. Epub 2018 Oct 10 doi: 10.1111/ejh.13153. PMID: 30055055
Diagnosis and management of intestinal Behçet's disease.
Hisamatsu T, Naganuma M, Matsuoka K, Kanai T
Clin J Gastroenterol 2014 Jun;7(3):205-12. Epub 2014 Apr 20 doi: 10.1007/s12328-014-0488-0. PMID: 24883128Free PMC Article
Trisomy 8.
Atkins L, Holmes LB, Riccardi VM
J Pediatr 1974 Feb;84(2):302-3. doi: 10.1016/s0022-3476(74)80631-1. PMID: 4129791

Therapy

Identification of Lenalidomide Sensitivity and Resistance Mechanisms in Non-Del(5q) Myelodysplastic Syndromes.
Drusbosky LM, Cogle CR
Int J Mol Sci 2020 May 8;21(9) doi: 10.3390/ijms21093323. PMID: 32397113Free PMC Article
Myeloid Sarcoma.
Magdy M, Abdel Karim N, Eldessouki I, Gaber O, Rahouma M, Ghareeb M
Oncol Res Treat 2019;42(4):224-229. Epub 2019 Mar 6 doi: 10.1159/000497210. PMID: 30840960
Gastrointestinal Behçet's disease: periodic fever, multiple ulcers and trisomy 8 in elderly man.
Awaji K, Inokuchi R, Maehara H, Moriyama M, Ohmae T, Okamoto M, Suyama Y
QJM 2018 Aug 1;111(8):579-580. doi: 10.1093/qjmed/hcy041. PMID: 29474736
Diagnosis and management of intestinal Behçet's disease.
Hisamatsu T, Naganuma M, Matsuoka K, Kanai T
Clin J Gastroenterol 2014 Jun;7(3):205-12. Epub 2014 Apr 20 doi: 10.1007/s12328-014-0488-0. PMID: 24883128Free PMC Article
Behçet's disease-like symptoms associated with myelodysplastic syndrome with trisomy 8: a case report and review of the literature.
Koguchi-Yoshioka H, Inokuma D, Kanda M, Kondo M, Kikuchi K, Shimizu S
Acta Derm Venereol 2014 May;94(3):355-6. doi: 10.2340/00015555-1706. PMID: 24037237

Prognosis

Hepatosplenic T-cell lymphoma: a rare but challenging entity.
Pro B, Allen P, Behdad A
Blood 2020 Oct 29;136(18):2018-2026. doi: 10.1182/blood.2019004118. PMID: 32756940Free PMC Article
Trisomy 8 in acute myeloid leukemia.
Hemsing AL, Hovland R, Tsykunova G, Reikvam H
Expert Rev Hematol 2019 Nov;12(11):947-958. Epub 2019 Sep 26 doi: 10.1080/17474086.2019.1657400. PMID: 31422708
Diagnosis and management of intestinal Behçet's disease.
Hisamatsu T, Naganuma M, Matsuoka K, Kanai T
Clin J Gastroenterol 2014 Jun;7(3):205-12. Epub 2014 Apr 20 doi: 10.1007/s12328-014-0488-0. PMID: 24883128Free PMC Article
Childhood myelodysplastic syndrome.
Chatterjee T, Choudhry VP
Indian J Pediatr 2013 Sep;80(9):764-71. Epub 2013 Aug 3 doi: 10.1007/s12098-013-1130-8. PMID: 23912822
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR
Best Pract Res Clin Haematol 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153. PMID: 11640868

Clinical prediction guides

Cytogenetic and Molecular Associations with Outcomes in Higher-Risk Myelodysplastic Syndromes Treated with Hypomethylating Agents plus Venetoclax.
Bazinet A, Desikan SP, Li Z, Rodriguez-Sevilla JJ, Venugopal S, Urrutia S, Montalban-Bravo G, Sasaki K, Chien KS, Hammond D, Kanagal-Shamanna R, Ganan-Gomez I, Kadia TM, Borthakur G, DiNardo CD, Daver NG, Jabbour EJ, Ravandi F, Kantarjian H, Garcia-Manero G
Clin Cancer Res 2024 Apr 1;30(7):1319-1326. doi: 10.1158/1078-0432.CCR-23-2860. PMID: 38300723Free PMC Article
GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.
Rajput RV, Arnold DE
Curr Hematol Malig Rep 2023 Aug;18(4):89-97. Epub 2023 May 29 doi: 10.1007/s11899-023-00695-7. PMID: 37247092
Clinical features and independent predictors of Behçet's disease associated with myelodysplastic syndrome.
Ding Y, Hu W, Li L, Guan W, Guan K, He Y, Liu S, Li TF
Clin Exp Rheumatol 2023 Sep;41(9):1823-1830. Epub 2023 Feb 7 doi: 10.55563/clinexprheumatol/04us5e. PMID: 36762734
Somatic genetic alterations predict hematological progression in GATA2 deficiency.
Largeaud L, Collin M, Monselet N, Vergez F, Fregona V, Larcher L, Hirsch P, Duployez N, Bidet A, Luquet I, Bustamante J, Dufrechou S, Prade N, Nolla M, Hamelle C, Tavitian S, Habib C, Meynier M, Bellanne-Chantelot C, Donadieu J, De Fontbrune FS, Fieschi C, Ferster A, Delhommeau F, Delabesse E, Pasquet M
Haematologica 2023 Jun 1;108(6):1515-1529. doi: 10.3324/haematol.2022.282250. PMID: 36727400Free PMC Article
Childhood myelodysplastic syndrome.
Chatterjee T, Choudhry VP
Indian J Pediatr 2013 Sep;80(9):764-71. Epub 2013 Aug 3 doi: 10.1007/s12098-013-1130-8. PMID: 23912822

Recent systematic reviews

How to treat myelodysplastic syndrome with clinical features resembling Behçet syndrome: a case-based systematic review.
Yilmaz U, Ar MC, Esatoglu SN, Bavunoglu I, Erzin YZ, Hatemi AI, Yildirim S, Hatemi G, Celik AF
Ann Hematol 2020 Jun;99(6):1193-1203. Epub 2020 Mar 5 doi: 10.1007/s00277-020-03951-5. PMID: 32140893
A reappraisal of the association between Behçet's disease, myelodysplastic syndrome and the presence of trisomy 8: a systematic literature review.
Esatoglu SN, Hatemi G, Salihoglu A, Hatemi I, Soysal T, Celik AF
Clin Exp Rheumatol 2015 Nov-Dec;33(6 Suppl 94):S145-51. Epub 2015 Feb 9 PMID: 25664843
Bone marrow transplantation for Behçet's disease: a case report and systematic review of the literature.
Soysal T, Salihoğlu A, Esatoğlu SN, Gültürk E, Eşkazan AE, Hatemi G, Hatemi I, Öngören Aydın Ş, Erzin YZ, Başlar Z, Tüzüner N, Ferhanoğlu B, Çelik AF
Rheumatology (Oxford) 2014 Jun;53(6):1136-41. Epub 2014 Feb 6 doi: 10.1093/rheumatology/ket479. PMID: 24505123

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