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

Brain Tumor Pathology
Char Loo TanRoger E McLendon

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.

References

Jan 18, 2012·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·P PearceG Tollesson
May 25, 2012·The Indian Journal of Radiology & Imaging·Girish BathlaCheng Kang Ong
Oct 17, 2015·Journal of Neurosurgery·Shuyu HaoZhengping Zhuang
Feb 28, 2016·BMC Research Notes·Olga ProkopchukHelmut Friess
Apr 3, 2016·Acta Neuropathologica Communications·Charlotte BonnetFrançois Ducray
Dec 11, 2017·Brain Tumor Pathology·Takamune AchihaHaruhiko Kishima

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Citations

Jul 2, 2021·Radiology Case Reports·Ahmet Kasım KarabulutMehmet Argın
Sep 29, 2021·Liver International : Official Journal of the International Association for the Study of the Liver·David CappellenPaulette Bioulac-Sage

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