Tumor predisposition syndrome 2
Tumor predisposition syndrome 2
Definition
An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma.
Also known as MANS, MBD4-associated neoplasia syndrome, MBD4-related recessive tumor predisposition syndrome, TPDS2 — per MONDO