FaCD Online Syndrome Fact Sheet

Last updated: 06 Feb 2008

Name: Acute Myelocytic Leukemia with Polyposis Coli & Colon Cancer

Mode of Inheritance: AR?

OMIM number: 246470  

Tumor features

bladder polyps
colorectal cancer
leukemia, acute myeloblastic (AML, M2)

Comment

Two brothers with consanguineous parents were reported by Greenberg et al.[1] to have developed multiple colorectal adenomatous polyps, early-onset colorectal cancer, acute myeloblastic leukemia, and (in one of the brothers) papillary bladder tumors. This could have been a case of bi-allelic MMR gene mutations).

References

[1] Greenberg MS, Anderson KC, Marchetto DJ, Li FP. Acute myelocytic leukemia in two brothers with polyposis coli and carcinoma of the colon. Ann Intern Med 1981; 95:702-703.