Familial T-cell lymphoblastic lymphoma: association with Von Recklinghausen neurofibromatosis and Gardner syndrome

Abstract

A family is described in which three of seven siblings developed a T-cell lymphoblastic lymphoma. Tumor cells formed rosettes with sheep erythrocytes, lacked surface Ig, and expressed human T- but not B-lymphocyte antigens. They lacked the enzyme terminal transferase suggesting a lymph node rather than thymic T-cell origin. Autopsy findings supported this conclusion. All three sibs, like their father, had numerous cafe'-au'lait spots indicative of Von Recklinghausen neurofibromatosis. One child had a subcutaneous fibroma, and another had multiple colonic polyps and exostoses characteristic of Gardner syndrome. Both are autosomal dominant conditions known to predispose to malignancies. The genetic factors responsible for these conditions may also predispose to the development of "post-thymic" T-cell lymphoblastic lymphoma.