NFB-06. TREATMENT CHALLENGES IN PEDIATRIC GLIOBLASTOMA MULTIFORME WITH CONCURRENT SOMATIC AND GERMLINE NF1 MUTATIONS WITH GERMLINE MISMATCH REPAIR MUTATIONS: TWO UNIQUE CASES
Sign Up to like & getrecommendations! Published in 2020 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noaa222.610
Abstract: Abstract INTRODUCTION We report the first known cases of pediatric glioblastoma (GBM) with prior clinical NF1 diagnoses, one with concurrent germline Lynch syndrome (LS) and NF1, and the other with somatic NF1 mutation and germline… read more here.
Keywords: nf1 mutations; germline; mismatch repair; gbm ... See more keywords
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genetics"
DOI: 10.1186/s12881-018-0615-8
Abstract: BackgroundNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by a heterozygous germline mutation in the tumor suppressor gene NF1. Because of the existence of highly homologous pseudogenes, the large size of the… read more here.
Keywords: nf1 mutations; spectrum nf1; mutations identified; unrelated chinese ... See more keywords