Somatic Fas Mutations in Non-Hodgkin's Lymphoma: Association With Extranodal Disease and Autoimmunity

摘要: Fas (APO-1/CD95) is a cell-surface receptor involved in cell death signaling. Germline mutations the gene have been associated with autoimmune lymphoproliferative syndrome, and somatic found multiple myeloma. We examined entire coding region all splice sites of 150 cases non-Hodgkin's lymphoma. Overall, were identified 16 tumors (11%). Missense within domain retention wild-type allele, indicating dominant-negative mechanism, whereas missense outside allelic loss. 3 (60%) MALT-type lymphomas, 9 (21%) diffuse large B-cell 2 (6%) follicle center 1 (50%) anaplastic lymphoma, unusual case chronic lymphocytic leukemia marked tropism for skin. Among patients mutations, 15 showed extranodal disease at presentation, 6 relapsed areas. Ten 13 evaluable features suggestive autoreactive disease. Our data indicate that disruption may play role pathogenesis some suggest link between mutation, cancer autoimmunity.