Ontology highlight
ABSTRACT:
SUBMITTER: Gururangan S
PROVIDER: S-EPMC4765346 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Gururangan Sridharan S Robinson Giles G Ellison David W DW Wu Gang G He Xuelian X Lu Q Richard QR McLendon Roger R Grant Gerald G Driscoll Timothy T Neuberg Ronnie R
Pediatric blood & cancer 20150504 10
We present three cases of genetically confirmed Gorlin syndrome with desmoplastic medulloblastoma (DMB) in whom tumor recurred despite standard therapy. One patient was found to have a novel germline missense PTCH1 mutation. Molecular analysis of recurrent tumor using fluorescent in situ hybridization (FISH) revealed PTEN and/ or PTCH1 loss in 2 patients. Whole exome sequencing (WES) of tumor in one patient revealed loss of heterozygosity of PTCH1 and a mutation of GNAS gene in its non-coding 3' ...[more]