title: Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.
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.
authors.affiliation: Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
authors.forename: Thomas B
authors.initials: TB
authors.lastname: Alexander
authors.affiliation: Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
authors.forename: Rose B
authors.initials: RB
authors.lastname: McGee
authors.affiliation: Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
authors.forename: Erica C
authors.initials: EC
authors.lastname: Kaye
authors.affiliation: Department of Diagnostic Imaging, St. Jude Children's Research Hospital, Memphis, Tennessee.
authors.forename: Mary Beth
authors.initials: MB
authors.lastname: McCarville
authors.affiliation: Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
authors.forename: John K
authors.initials: JK
authors.lastname: Choi
authors.affiliation: Department of Pediatrics, Le Bonheur Children's Hospital, Memphis, Tennessee.
authors.forename: Cary P
authors.initials: CP
authors.lastname: Cavender
authors.affiliation: Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
authors.forename: Kim E
authors.initials: KE
authors.lastname: Nichols
authors.affiliation: Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
authors.forename: John T
authors.initials: JT
authors.lastname: Sandlund
mesh_terms: D000293:Adolescent; D001932:Brain Neoplasms / Q000235:genetics*; D002051:Burkitt Lymphoma / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D016609:Neoplasms, Second Primary / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*
keywords: hereditary; lymphoma; oncology; predisposition