| Literature DB >> 27037742 |
Thomas B Alexander1, Rose B McGee1, Erica C Kaye1, Mary Beth McCarville2, John K Choi3, Cary P Cavender4, Kim E Nichols1, John T Sandlund1.
Abstract
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 the age of 3 years, followed by Burkitt lymphoma 10 years later. This patient also exhibited numerous nonmalignant findings including café au lait spots, lipomas, bilateral renal nodules, a nonossifying 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.Entities:
Keywords: hereditary; lymphoma; oncology; predisposition
Mesh:
Year: 2016 PMID: 27037742 PMCID: PMC4915984 DOI: 10.1002/pbc.25989
Source DB: PubMed Journal: Pediatr Blood Cancer ISSN: 1545-5009 Impact factor: 3.167