title: Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2.
abstract: We describe a 12-year-old girl, simultaneously presenting with colonic adenocarcinoma and medulloblastoma from bialleic deletions in the mismatch repair gene PMS2. Her distinctive physical and clinical findings are characteristic of constitutional mismatch repair deficiency syndrome. Earlier recognition of such findings may permit better screening and more effective treatment.
authors.affiliation: Department of Pediatrics, Children's Center for Cancer and Blood Diseases, Children's Hospital of Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
authors.forename: Holly
authors.initials: H
authors.lastname: Lindsay
authors.forename: Rima F
authors.initials: RF
authors.lastname: Jubran
authors.forename: Larry
authors.initials: L
authors.lastname: Wang
authors.forename: Benjamin R
authors.initials: BR
authors.lastname: Kipp
authors.forename: William A
authors.initials: WA
authors.lastname: May
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000251:Adenosine Triphosphatases / Q000235:genetics*; D000483:Alleles; D002528:Cerebellar Neoplasms / Q000235:genetics*; D002648:Child; D003110:Colonic Neoplasms / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008527:Medulloblastoma / Q000235:genetics*; D000070976:Mismatch Repair Endonuclease PMS2; D009378:Neoplasms, Multiple Primary / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D045643:DNA Repair Enzymes
keywords: CMMR-D; Constitutional mismatch repair-deficiency; MRI; Magnetic resonance imaging