U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcute Myeloid Leukemia with Germline CEBPA Mutation

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
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
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

Recent clinical studies

Diagnosis

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

Prognosis

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

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...