HAVCR2-related cancer predisposition

Definition

Hereditary cancer predisposition due to variation(s) in the HAVCR2 gene, which confers the predisposition to susceptibility to subcutaneous panniculitis-like T-cell lymphoma (SPTCL) and hemophagocytic lymphohistiocytosis (HLH). Affected individuals typically present with multiple subcutaneous nodules and systemic B symptoms.

Also known as HAVCR2-related SPTCL and/or HLH predisposition, HAVCR2-related subcutaneous panniculitis-like T-cell lymphoma and/or hemophagocytic lymphohistiocytosis predisposition — per MONDO