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Leukemia, acute myelocytic, with polyposis coli and colon cancer

MedGen UID:
Concept ID:
Neoplastic Process
Synonym: Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer
Monarch Initiative: MONDO:0009521
OMIM®: 246470

Clinical features

From HPO
Acute myeloid leukemia
MedGen UID:
Concept ID:
Neoplastic Process
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.
Abnormality of the genitourinary system
MedGen UID:
Concept ID:
Congenital Abnormality
The presence of any abnormality of the genitourinary system.
Colon cancer
MedGen UID:
Concept ID:
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Adenomatous colonic polyposis
MedGen UID:
Concept ID:
Presence of multiple adenomatous polyps in the colon.

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