title: Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.
abstract: A 13-year-old child presented with three simultaneous malignancies: glioblastoma multiforme, Burkitt lymphoma, and colonic adenocarcinoma. She was treated for her diseases without success and died 8 months after presentation. Genetic analysis revealed a homozygous mutation in the PMS2 gene, consistent with constitutional mismatch repair deficiency. Her siblings and parents were screened: three of four siblings and both parents were heterozygous for this mutation; the fourth sibling did not have the mutation.
authors.affiliation: Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania; Department of Pediatrics, A. I. duPont Hospital for Children, Wilmington, Delaware.
authors.forename: Andrew W
authors.initials: AW
authors.lastname: Walter
authors.forename: Sara
authors.initials: S
authors.lastname: Ennis
authors.forename: Hunter
authors.initials: H
authors.lastname: Best
authors.forename: Cecily P
authors.initials: CP
authors.lastname: Vaughn
authors.forename: Jeffrey J
authors.initials: JJ
authors.lastname: Swensen
authors.forename: Amanda
authors.initials: A
authors.lastname: Openshaw
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D001932:Brain Neoplasms / Q000235:genetics*; D002051:Burkitt Lymphoma / Q000235:genetics; D003110:Colonic Neoplasms / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005909:Glioblastoma / Q000235:genetics; D006801:Humans; D000070976:Mismatch Repair Endonuclease PMS2; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010375:Pedigree
chemical_list: D004268:DNA-Binding Proteins; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D045643:DNA Repair Enzymes
keywords: Burkitt lymphoma; Lynch syndrome; adenocarcinoma; constitutional mismatch repair; glioblastoma multiforme