Tumor necrosis factor, α-induced protein 3 (TNFAIP3) which encodes a ubiquitin-modifying enzyme (A20), acts as a negative regulator of the NF-κB pathway, and in lymphoma and autoimmune diseases it is frequently inactivated by mutations and/or deletions.
Twelve (60%) of the 20 patients with paired germline and lymphomaTNFAIP3 sequence data had functional abnormalities of A20: 6 in germline DNA, 5 in lymphoma DNA, and 1 in both.
The tumor suppressor A20 [also known as TNFAIP3 (tumor necrosis factor-α-induced protein 3)] inhibits an upstream activator of NF-κB and is often mutated in lymphomas.
A new study identifies somatic mutations in TNFAIP3, the gene encoding the NF-kappaB inhibitor A20, in Hodgkin lymphomas and primary mediastinal lymphomas.