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Acute myeloid leukemia with CEBPA somatic mutations

MedGen UID:
1640289
Concept ID:
C4707178
Neoplastic Process
Synonym: Acute myeloid leukemia with mutated CEBPA
SNOMED CT: Acute myeloid leukemia with CEBPA somatic mutations (764855007); Acute myeloid leukemia with CCAAT/enhancer binding protein alpha somatic mutation (764855007)
 
Monarch Initiative: MONDO:0017894
Orphanet: ORPHA319480

Disease characteristics

CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML. In contrast, sporadic CEBPA-associated AML is defined as AML in which a CEBPA pathogenic variant(s) is identified in leukemic cells but not in the non-leukemic cells. In the majority of individuals, the age of onset of familial AML appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age 1.8 years and up to age 50 years. The prognosis of CEBPA-associated familial AML appears to be favorable compared with sporadic CEBPA-associated AML. Individuals with CEBPA-associated familial AML who have been cured of their initial disease may be at greater risk of developing additional independent leukemic episodes, in addition to the risk of relapse from preexisting clones. [from GeneReviews]
Authors:
Kiran Tawana  |  Jude Fitzgibbon   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcute myeloid leukemia with CEBPA somatic mutations

Professional guidelines

PubMed

Yamaguchi H
Int J Hematol 2024 Oct;120(4):414-416. Epub 2024 Sep 3 doi: 10.1007/s12185-024-03837-6. PMID: 39225969
Larkin KT, Nicolet D, Kelly BJ, Mrózek K, LaHaye S, Miller KE, Wijeratne S, Wheeler G, Kohlschmidt J, Blachly JS, Mims AS, Walker CJ, Oakes CC, Orwick S, Boateng I, Buss J, Heyrosa A, Desai H, Carroll AJ, Blum W, Powell BL, Kolitz JE, Moore JO, Mayer RJ, Larson RA, Stone RM, Paskett ED, Byrd JC, Mardis ER, Eisfeld AK
Blood Adv 2022 Oct 11;6(19):5570-5581. doi: 10.1182/bloodadvances.2022007544. PMID: 35788257Free PMC Article
Walker AR, Marcucci G
J Natl Compr Canc Netw 2014 Apr;12(4):527-34. doi: 10.6004/jnccn.2014.0057. PMID: 24717571

Recent clinical studies

Etiology

Yamaguchi H
Int J Hematol 2024 Oct;120(4):414-416. Epub 2024 Sep 3 doi: 10.1007/s12185-024-03837-6. PMID: 39225969
Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL
Blood 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. PMID: 35671390Free PMC Article
Brown AL, Hahn CN, Scott HS
Blood 2020 Jul 2;136(1):24-35. doi: 10.1182/blood.2019000937. PMID: 32430494Free PMC Article
Cornell RF, Palmer J
Dis Mon 2012 Apr;58(4):219-38. doi: 10.1016/j.disamonth.2012.01.011. PMID: 22449370
Patel JP, Gönen M, Figueroa ME, Fernandez H, Sun Z, Racevskis J, Van Vlierberghe P, Dolgalev I, Thomas S, Aminova O, Huberman K, Cheng J, Viale A, Socci ND, Heguy A, Cherry A, Vance G, Higgins RR, Ketterling RP, Gallagher RE, Litzow M, van den Brink MR, Lazarus HM, Rowe JM, Luger S, Ferrando A, Paietta E, Tallman MS, Melnick A, Abdel-Wahab O, Levine RL
N Engl J Med 2012 Mar 22;366(12):1079-89. Epub 2012 Mar 14 doi: 10.1056/NEJMoa1112304. PMID: 22417203Free PMC Article

Diagnosis

Liu YC, Eldomery MK, Maciaszek JL, Klco JM
Annu Rev Pathol 2025 Jan;20(1):87-114. Epub 2025 Jan 2 doi: 10.1146/annurev-pathmechdis-111523-023420. PMID: 39357070
Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL
Blood 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. PMID: 35671390Free PMC Article
Mendoza H, Podoltsev NA, Siddon AJ
Int J Lab Hematol 2021 Jul;43 Suppl 1:86-95. doi: 10.1111/ijlh.13517. PMID: 34288448
Brown AL, Hahn CN, Scott HS
Blood 2020 Jul 2;136(1):24-35. doi: 10.1182/blood.2019000937. PMID: 32430494Free PMC Article
Cornell RF, Palmer J
Dis Mon 2012 Apr;58(4):219-38. doi: 10.1016/j.disamonth.2012.01.011. PMID: 22449370

Therapy

Larkin KT, Nicolet D, Kelly BJ, Mrózek K, LaHaye S, Miller KE, Wijeratne S, Wheeler G, Kohlschmidt J, Blachly JS, Mims AS, Walker CJ, Oakes CC, Orwick S, Boateng I, Buss J, Heyrosa A, Desai H, Carroll AJ, Blum W, Powell BL, Kolitz JE, Moore JO, Mayer RJ, Larson RA, Stone RM, Paskett ED, Byrd JC, Mardis ER, Eisfeld AK
Blood Adv 2022 Oct 11;6(19):5570-5581. doi: 10.1182/bloodadvances.2022007544. PMID: 35788257Free PMC Article
Zhu H, Yang B, Liu J, Wu W, Ling Y
Medicine (Baltimore) 2020 Jan;99(3):e18888. doi: 10.1097/MD.0000000000018888. PMID: 32011516Free PMC Article
Meyer SC, Levine RL
Lancet Oncol 2014 Aug;15(9):e382-94. doi: 10.1016/S1470-2045(14)70008-7. PMID: 25079101
Cornell RF, Palmer J
Dis Mon 2012 Apr;58(4):219-38. doi: 10.1016/j.disamonth.2012.01.011. PMID: 22449370
Patel JP, Gönen M, Figueroa ME, Fernandez H, Sun Z, Racevskis J, Van Vlierberghe P, Dolgalev I, Thomas S, Aminova O, Huberman K, Cheng J, Viale A, Socci ND, Heguy A, Cherry A, Vance G, Higgins RR, Ketterling RP, Gallagher RE, Litzow M, van den Brink MR, Lazarus HM, Rowe JM, Luger S, Ferrando A, Paietta E, Tallman MS, Melnick A, Abdel-Wahab O, Levine RL
N Engl J Med 2012 Mar 22;366(12):1079-89. Epub 2012 Mar 14 doi: 10.1056/NEJMoa1112304. PMID: 22417203Free PMC Article

Prognosis

Mendoza H, Podoltsev NA, Siddon AJ
Int J Lab Hematol 2021 Jul;43 Suppl 1:86-95. doi: 10.1111/ijlh.13517. PMID: 34288448
Brown AL, Hahn CN, Scott HS
Blood 2020 Jul 2;136(1):24-35. doi: 10.1182/blood.2019000937. PMID: 32430494Free PMC Article
Coombs CC, Tallman MS, Levine RL
Nat Rev Clin Oncol 2016 May;13(5):305-18. Epub 2015 Dec 1 doi: 10.1038/nrclinonc.2015.210. PMID: 26620272Free PMC Article
Cornell RF, Palmer J
Dis Mon 2012 Apr;58(4):219-38. doi: 10.1016/j.disamonth.2012.01.011. PMID: 22449370
Patel JP, Gönen M, Figueroa ME, Fernandez H, Sun Z, Racevskis J, Van Vlierberghe P, Dolgalev I, Thomas S, Aminova O, Huberman K, Cheng J, Viale A, Socci ND, Heguy A, Cherry A, Vance G, Higgins RR, Ketterling RP, Gallagher RE, Litzow M, van den Brink MR, Lazarus HM, Rowe JM, Luger S, Ferrando A, Paietta E, Tallman MS, Melnick A, Abdel-Wahab O, Levine RL
N Engl J Med 2012 Mar 22;366(12):1079-89. Epub 2012 Mar 14 doi: 10.1056/NEJMoa1112304. PMID: 22417203Free PMC Article

Clinical prediction guides

Bülbül H, Kaya ÖÖ, Karadağ FK, Olgun A, Demirci Z, Ceylan C
Medicine (Baltimore) 2024 Oct 11;103(41):e39909. doi: 10.1097/MD.0000000000039909. PMID: 39465815Free PMC Article
Yun J, Song H, Kim SM, Kim S, Kwon SR, Lee YE, Jeong D, Park JH, Kwon S, Yun H, Lee DS
Hum Genomics 2023 Feb 23;17(1):13. doi: 10.1186/s40246-023-00458-8. PMID: 36814285Free PMC Article
Brown AL, Hahn CN, Scott HS
Blood 2020 Jul 2;136(1):24-35. doi: 10.1182/blood.2019000937. PMID: 32430494Free PMC Article
Tawana K, Wang J, Renneville A, Bödör C, Hills R, Loveday C, Savic A, Van Delft FW, Treleaven J, Georgiades P, Uglow E, Asou N, Uike N, Debeljak M, Jazbec J, Ancliff P, Gale R, Thomas X, Mialou V, Döhner K, Bullinger L, Mueller B, Pabst T, Stelljes M, Schlegelberger B, Wozniak E, Iqbal S, Okosun J, Araf S, Frank AK, Lauridsen FB, Porse B, Nerlov C, Owen C, Dokal I, Gribben J, Smith M, Preudhomme C, Chelala C, Cavenagh J, Fitzgibbon J
Blood 2015 Sep 3;126(10):1214-23. Epub 2015 Jul 10 doi: 10.1182/blood-2015-05-647172. PMID: 26162409
Patel JP, Gönen M, Figueroa ME, Fernandez H, Sun Z, Racevskis J, Van Vlierberghe P, Dolgalev I, Thomas S, Aminova O, Huberman K, Cheng J, Viale A, Socci ND, Heguy A, Cherry A, Vance G, Higgins RR, Ketterling RP, Gallagher RE, Litzow M, van den Brink MR, Lazarus HM, Rowe JM, Luger S, Ferrando A, Paietta E, Tallman MS, Melnick A, Abdel-Wahab O, Levine RL
N Engl J Med 2012 Mar 22;366(12):1079-89. Epub 2012 Mar 14 doi: 10.1056/NEJMoa1112304. PMID: 22417203Free PMC Article

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