O13: Prevalence of cancer predisposition variants in a pediatric pineoblastoma cohort

Genetics in Medicine Open 2026 Open access

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Authors: Fang Fang, Kareesma Parbhoo, Vijayakumar Jayaraman, Don Corsmeier, Douglas Depoorter, Jessica Howard, Liana Hernandez, Amy Everest, Swetha Ramadesikan, Benjamin Kelly, Sean Caruthers, Alejandro Bravo
+10 more Shalini C. Reshmi, Karen Tsuchiya, Daniel R. Boué, Kathleen M. Schieffer, Marco L. Leung, Mariam Mathew, Yassmine M. N. Akkari, Elaine Mardis, Catherine E. Cottrell, Ying‐Chen Claire Hou
DOI: 10.1016/j.gimo.2026.104299
Cited by: 0

Abstract

Pineoblastoma (PB) is a poorly differentiated embryonal neoplasm that originates in the pineal region and accounts for less than 1% of all pediatric brain tumors. PB is a highly aggressive tumor and is often associated with a poor outcome with a median age at diagnosis of six years. To date, only a few cohorts of PB patients have undergone molecular profiling by genome-wide DNA methylation analysis, and the prognostic value of molecular subgrouping has been shown to be significant for clinical management of PB patients.

Fields of Study & Subjects

Glioma Diagnosis and Treatment Neuroblastoma Research and Treatments Chromatin Remodeling and Cancer

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104299–104299
Publication date
1 January 2026
Language
EN