Intratumoral heterogeneity of genomic imbalance in a case of epithelioid glioblastoma with BRAF V600E mutation.

Brain Pathology
Sumihito NobusawaYoichi Nakazato

Abstract

Epithelioid glioblastoma is among the rarest variants of glioblastoma and is not formally recognized in the World Health Organization classification; it is composed of monotonous, discohesive sheets of small, round cells with eccentric nuclei and eosinophilic cytoplasm devoid of cytoplasmic stellate processes, showing the retention of nuclear staining of INI-1 protein. Here, we report a case involving a 22-year-old man with a right occipital lobe tumor, which comprised mainly epithelioid tumor cells with a small area of diffusely infiltrating less atypical astrocytoma cells showing a lower cell density. Array comparative genomic hybridization separately performed for each histologically distinct component demonstrated eight shared copy number alterations (CNAs) and three CNAs observed only in epithelioid cells; one of the latter was a homozygous deletion of a tumor suppressor gene, LSAMP, at 3q13.31. BRAF V600E mutation was observed both in epithelioid tumor cells and in diffusely infiltrating less atypical astrocytoma cells. Our findings suggest that the regional loss of LSAMP led to the aggressive nature of epithelioid cells in the present case of epithelioid glioblastoma.

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Citations

Nov 5, 2015·Expert Opinion on Investigational Drugs·Matthias PreusserPeter Birner
Oct 9, 2015·Brain Tumor Pathology·Yuta SuzukiYuichi Murayama
Nov 26, 2015·Brain Tumor Pathology·Nobuaki FunataNobusada Shinoura
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Jun 16, 2016·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Nozomi MatsumuraHideaki Yokoo
Mar 14, 2018·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Takuya FurutaYasuo Sugita
Oct 1, 2014·Current Opinion in Neurology·Anna Sophie Berghoff, Matthias Preusser
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Jan 13, 2015·The American Journal of Surgical Pathology·Bette K Kleinschmidt-DeMastersNicholas K Foreman
Dec 17, 2020·Frontiers in Neuroscience·Federica Di CintioGiuseppe Toffoli

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