U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Acute myeloid leukemia


Excerpted from the GeneReview: CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
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.

Genes See tests for all associated and related genes

  • Also known as: C/EBP-alpha, CEBP, CEBPA
    Summary: CCAAT enhancer binding protein alpha

  • Also known as: BTL, CHIC2
    Summary: cysteine rich hydrophobic domain 2

  • Also known as: DNMT3A2, HESJAS, M.HsaIIIA, TBRS, DNMT3A
    Summary: DNA methyltransferase 3 alpha

  • Also known as: TEL, TEL/ABL, THC5, ETV6
    Summary: ETS variant transcription factor 6

  • Also known as: CD135, FLK-2, FLK2, STK1, FLT3
    Summary: fms related receptor tyrosine kinase 3

  • Also known as: DCML, IMD21, MONOMAC, NFE1B, GATA2
    Summary: GATA binding protein 2

  • Also known as: JTK10, JAK2
    Summary: Janus kinase 2

  • Also known as: C-Kit, CD117, MASTC, PBT, SCFR, KIT
    Summary: KIT proto-oncogene, receptor tyrosine kinase

  • Also known as: 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, K-Ras, K-Ras 2, KI-RAS, KRAS1, KRAS2, NS, NS3, OES, RALD, RASK2, c-Ki-ras, c-Ki-ras2, KRAS
    Summary: KRAS proto-oncogene, GTPase

  • Also known as: , LPP
    Summary: LIM domain containing preferred translocation partner in lipoma

  • Also known as: AF10, MLLT10
    Summary: MLLT10 histone lysine methyltransferase DOT1L cofactor

  • Also known as: B23, NPM, NPM1
    Summary: nucleophosmin 1

  • Also known as: CAIN, CAN, IIAE9, NUP214
    Summary: nucleoporin 214

  • Also known as: CALM, CLTH, LAP, PICALM
    Summary: phosphatidylinositol binding clathrin assembly protein

  • Also known as: AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha, RUNX1
    Summary: RUNX family transcription factor 1

  • Also known as: CNSA1, EEN, SH3D2B, SH3P8, SH3GL1
    Summary: SH3 domain containing GRB2 like 1, endophilin A2

  • Also known as: CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1, TP2, TRT, hEST2, hTRT, TERT
    Summary: telomerase reverse transcriptase

Clinical features


Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.