title: High-grade brain tumors in siblings with biallelic MSH6 mutations.
abstract: Biallelic germline mutations of Constitutional mismatch repair-deficiency syndrome (CMMR-D) genes, MLH1, MSH2, MSH6, and PMS2 are characterized by increased risk of childhood malignancy. We report a case with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri and T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. A literature review on brain tumors in CMMR-D families shows that they are treatment-resistant and lead to early death. Identification of patients with CMMR-D is critical, and specific cancer screening programs with early surgery are recommended.
authors.affiliation: 2nd Pediatric Department of Children University Hospital, Comenius University, Bratislava, Slovakia. denisa.ilencikova9@gmail.com
authors.forename: Denisa
authors.initials: D
authors.lastname: Ilencikova
authors.forename: Daniela
authors.initials: D
authors.lastname: Sejnova
authors.forename: Jana
authors.initials: J
authors.lastname: Jindrova
authors.forename: Pavel
authors.initials: P
authors.lastname: Babal
mesh_terms: D000483:Alleles; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D002648:Child; D049914:DNA Repair-Deficiency Disorders / Q000235:genetics* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005909:Glioblastoma / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics; D035781:Siblings
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein