Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism.

Abstract:

:Ollier disease (OD) and Maffucci syndrome are rare conditions due to a post-zygotic somatic mutation that results in mosaicism. In addition to enchondromas and hemangiomas, some of these patients also develop other unrelated tumors, such as gliomas, that harbor IDH mutations, suggesting that an IDH mutation is a common genetic event in the tumorigenesis in this group of patients. We illustrate an interesting case of multifocal IDH-mutant astrocytomas in an OD patient with 8 years of follow-up. We first demonstrated identical IDH mutations in the brain tumor samples from various locations in this patient, but different 1p,19q results by fluorescent in-situ hybridization, different whole genome copy number profiles by OncoScan analysis, and a discrepant IDH2M131I mutation unique to one tumor, supporting a multifocal disease process in the setting of somatic IDH mosaicism.

journal_name

Brain Tumor Pathol

journal_title

Brain tumor pathology

authors

Tan CL,Vellayappan B,Wu B,Yeo TT,McLendon RE

doi

10.1007/s10014-018-0327-y

subject

Has Abstract

pub_date

2018-10-01 00:00:00

pages

202-208

issue

4

eissn

1433-7398

issn

1861-387X

pii

10.1007/s10014-018-0327-y

journal_volume

35

pub_type

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