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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

Definition

A subtype of acute myeloid leukaemia with recurrent genetic abnormalities, characterised by clonal proliferation of myeloid blasts harbouring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anaemia, thrombocytopenia, and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). [from SNOMEDCT_US]

Term Hierarchy

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

Professional guidelines

PubMed

Advances in pathogenesis research and challenges in treatment development for acute myeloid leukemia.
Yamaguchi H
Int J Hematol 2024 Oct;120(4):414-416. Epub 2024 Sep 3 doi: 10.1007/s12185-024-03837-6. PMID: 39225969
High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML.
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
Management of patients with cytogenetically normal acute myeloid leukemia who have neither favorable nor unfavorable markers.
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

The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.
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
Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia.
Mendoza H, Podoltsev NA, Siddon AJ
Int J Lab Hematol 2021 Jul;43 Suppl 1:86-95. doi: 10.1111/ijlh.13517. PMID: 34288448
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).
Brown AL, Hahn CN, Scott HS
Blood 2020 Jul 2;136(1):24-35. doi: 10.1182/blood.2019000937. PMID: 32430494Free PMC Article
Adult acute leukemia.
Cornell RF, Palmer J
Dis Mon 2012 Apr;58(4):219-38. doi: 10.1016/j.disamonth.2012.01.011. PMID: 22449370
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
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

Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants.
Harrigan AM, Trottier AM
Fam Cancer 2023 Jul;22(3):331-339. Epub 2023 Mar 6 doi: 10.1007/s10689-023-00329-0. PMID: 36879149
The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.
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
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).
Brown AL, Hahn CN, Scott HS
Blood 2020 Jul 2;136(1):24-35. doi: 10.1182/blood.2019000937. PMID: 32430494Free PMC Article
ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data.
Rustagi N, Hampton OA, Li J, Xi L, Gibbs RA, Plon SE, Kimmel M, Wheeler DA
BMC Bioinformatics 2016 Apr 27;17:188. doi: 10.1186/s12859-016-1031-8. PMID: 27121965Free PMC Article
Adult acute leukemia.
Cornell RF, Palmer J
Dis Mon 2012 Apr;58(4):219-38. doi: 10.1016/j.disamonth.2012.01.011. PMID: 22449370

Therapy

High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML.
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
Translational implications of somatic genomics in acute myeloid leukaemia.
Meyer SC, Levine RL
Lancet Oncol 2014 Aug;15(9):e382-94. doi: 10.1016/S1470-2045(14)70008-7. PMID: 25079101
GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia.
Greif PA, Dufour A, Konstandin NP, Ksienzyk B, Zellmeier E, Tizazu B, Sturm J, Benthaus T, Herold T, Yaghmaie M, Dörge P, Hopfner KP, Hauser A, Graf A, Krebs S, Blum H, Kakadia PM, Schneider S, Hoster E, Schneider F, Stanulla M, Braess J, Sauerland MC, Berdel WE, Büchner T, Woermann BJ, Hiddemann W, Spiekermann K, Bohlander SK
Blood 2012 Jul 12;120(2):395-403. Epub 2012 May 30 doi: 10.1182/blood-2012-01-403220. PMID: 22649106
Adult acute leukemia.
Cornell RF, Palmer J
Dis Mon 2012 Apr;58(4):219-38. doi: 10.1016/j.disamonth.2012.01.011. PMID: 22449370
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
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

Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia.
Mendoza H, Podoltsev NA, Siddon AJ
Int J Lab Hematol 2021 Jul;43 Suppl 1:86-95. doi: 10.1111/ijlh.13517. PMID: 34288448
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).
Brown AL, Hahn CN, Scott HS
Blood 2020 Jul 2;136(1):24-35. doi: 10.1182/blood.2019000937. PMID: 32430494Free PMC Article
Molecular therapy for acute myeloid leukaemia.
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
Adult acute leukemia.
Cornell RF, Palmer J
Dis Mon 2012 Apr;58(4):219-38. doi: 10.1016/j.disamonth.2012.01.011. PMID: 22449370
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
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

Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.
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
Specific effects of somatic GATA2 zinc finger mutations on erythroid differentiation.
Redondo Monte E, Leubolt G, Windisch R, Kerbs P, Dutta S, Landspersky T, Istvánffy R, Oostendorp RAJ, Chen-Wichmann L, Herold T, Cusan M, Schotta G, Wichmann C, Greif PA
Exp Hematol 2022 Apr;108:26-35. Epub 2022 Feb 16 doi: 10.1016/j.exphem.2022.02.002. PMID: 35181392
Germline DNMT3A mutation in familial acute myeloid leukaemia.
DiNardo CD, Beird HC, Estecio M, Hardikar S, Takahashi K, Bannon SA, Borthakur G, Jabbour E, Gumbs C, Khoury JD, Routbort M, Gong T, Kondo K, Kantarjian H, Garcia-Manero G, Chen T, Futreal PA
Epigenetics 2021 May;16(5):567-576. Epub 2020 Aug 28 doi: 10.1080/15592294.2020.1809871. PMID: 32856987Free PMC Article
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).
Brown AL, Hahn CN, Scott HS
Blood 2020 Jul 2;136(1):24-35. doi: 10.1182/blood.2019000937. PMID: 32430494Free PMC Article
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
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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