Journal article

Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study.

Bryan K Li, Alexandre Vasiljevic, Christelle Dufour, Fupan Yao, Ben LB Ho, Mei Lu, Eugene I Hwang, Sridharan Gururangan, Jordan R Hansford, Maryam Fouladi, Sumihito Nobusawa, Annie Laquerriere, Marie-Bernadette Delisle, Jason Fangusaro, Fabien Forest, Helen Toledano, Palma Solano-Paez, Sarah Leary, Diane Birks, Lindsey M Hoffman Show all

Acta Neuropathologica | Springer Science and Business Media LLC | Published : 2020

Abstract

Pineoblastomas (PBs) are rare, aggressive pediatric brain tumors of the pineal gland with modest overall survival despite intensive therapy. We sought to define the clinical and molecular spectra of PB to inform new treatment approaches for this orphan cancer. Tumor, blood, and clinical data from 91 patients with PB or supratentorial primitive neuroectodermal tumor (sPNETs/CNS-PNETs), and 2 pineal parenchymal tumors of intermediate differentiation (PPTIDs) were collected from 29 centres in the Rare Brain Tumor Consortium. We used global DNA methylation profiling to define a core group of PB from 72/93 cases, which were delineated into five molecular sub-groups. Copy number, whole exome and t..

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