title: Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient.
abstract: An 8-year-old male with lymphoblastic lymphoma was noted to have multiple café-au-lait macules and possible Lisch nodules. Work-up revealed the child as compound heterozygous for mutations in the DNA mismatch repair gene, MSH6. This case emphasizes many clinical issues regarding individuals with biallelic mismatch repair mutations, a rare and easily missed hereditary predisposition to childhood cancer. The issues include the need for high clinical suspicion based on skin examination findings and family history, the phenotypic similarity to neurofibromatosis type 1 with possibility of misdiagnosis, the high risk for subsequent malignances, and the need for further research of possible treatment resistance.
authors.affiliation: Department of Pediatric Hematology/Oncology, Gundersen Lutheran Medical Center, La Crosse, WI 54601-5494, USA. ampeter2@gundluth.org
authors.forename: Antoinette
authors.initials: A
authors.lastname: Peters
authors.forename: Hayley
authors.initials: H
authors.lastname: Born
authors.forename: Robert
authors.initials: R
authors.lastname: Ettinger
authors.forename: Peter
authors.initials: P
authors.lastname: Levonian
authors.forename: Kerry Baldwin
authors.initials: KB
authors.lastname: Jedele
mesh_terms: D002648:Child; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis* / Q000235:genetics*; D012867:Skin
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein