Acute Myeloid Leukemia with Germline CEBPA Mutation

MedGen UID:: 777990
•Concept ID:: C3711382
•: Neoplastic Process

Synonyms:

Cebpa-Dependent Familial Acute Myeloid Leukemia; Familial Acute Myeloid Leukaemia; Familial Acute Myeloid Leukemia with Mutated Cebpa

Definition

Familial acute myeloid leukemia (AML) syndrome associated with biallelic CEBPA mutations. Patients typically present with AML as children or young adults. The familial form of AML with germline CEBPA mutation has morphological and immunophenotypic features similar to those of sporadic AML with CEBPA mutations. Overall, it has a favorable prognosis. (WHO 2017) [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAcute Myeloid Leukemia with Germline CEBPA Mutation

Disease
- Neoplasm
  - Malignant neoplastic disease
    - Hereditary cancer
      - Hematologic Neoplasm with Germline Predisposition
        Hematologic Neoplasm with Germline Predisposition without a Constitutional Disorder Affecting Multiple Organ Systems
        Acute Myeloid Leukemia with Germline CEBPA Mutation

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

Clinical features and management of germline CEBPA-mutated carriers.

Pan L, Li Y, Gao H, Lai X, Cai Y, Chen Z, Li X, Wang SY
Leuk Res 2024 Mar;138:107453. Epub 2024 Feb 3 doi: 10.1016/j.leukres.2024.107453. PMID: 38442594

Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?

Tawana K, Drazer MW, Churpek JE
Leukemia 2018 Jul;32(7):1482-1492. Epub 2018 Feb 27 doi: 10.1038/s41375-018-0051-y. PMID: 29483711

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