Familial T‐cell non‐Hodgkin lymphoma caused by biallelic MSH2 mutations
AUTOR(ES)
Scott, Richard H
FONTE
BMJ Group
RESUMO
Familial non‐Hodgkin lymphoma (NHL) is rare and in most cases, no underlying cause is identifiable. We report homozygous truncating mutations in the mismatch repair gene MSH2 (226C→T; Q76X) in three siblings who each developed T‐cell NHL in early childhood. All three children had hyperpigmented and hypopigmented skin lesions.