Metachronous T-lymphoblastic lymphoma and Burkitt lymphoma in a child with constitutional mismatch repair deficiency syndrome

摘要

Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition syndrome associated with a high risk of developing early-onset malignancies of the blood, brain and intestinal tract. We present the case of a patient with T-lymphoblastic lymphoma at age three, followed by Burkitt lymphoma ten years later. This patient also exhibited numerous nonmalignant findings including café au lait spots, lipomas, bilateral renal nodules, a non-ossifying fibroma, multiple colonic adenomas, and a rapidly enlarging pilomatrixoma. The spectrum of malignant and nonmalignant neoplasms in this patient highlights the remarkable diversity, and early onset, of lesions seen in children with CMMRD.