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Article

Gorlin syndrome and desmoplastic medulloblastoma: Report of 3 cases with unfavorable clinical course and novel mutations.

Pediatric blood & cancer - 1 Oct 2015

Gururangan Sridharan, Robinson Giles, Ellison David W, Wu Gang, He Xuelian, Lu Q Richard, McLendon Roger, Grant Gerald, Driscoll Timothy, Neuberg Ronnie

Abstract excerpt

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...

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Source

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Identifiers

PMID: 25940061
DOI: 10.1002/pbc.25560
PMCID: PMC4765346

Genes

PTCH1
GNAS
HDC
PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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