Erschienen in:
12.09.2019 | Correspondence
Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas
verfasst von:
Emily A. Sloan, Tabitha Cooney, Nancy Ann Oberheim Bush, Robin Buerki, Jennie Taylor, Jennifer L. Clarke, Joseph Torkildson, Cassie Kline, Alyssa Reddy, Sabine Mueller, Anu Banerjee, Nicholas Butowski, Susan Chang, Praveen V. Mummaneni, Dean Chou, Lee Tan, Philip Theodosopoulos, Michael McDermott, Mitchel Berger, Corey Raffel, Nalin Gupta, Peter P. Sun, Yi Li, Vinil Shah, Soonmee Cha, Steve Braunstein, David R. Raleigh, David Samuel, David Scharnhorst, Cynthia Fata, Hua Guo, Gregory Moes, John Y. H. Kim, Carl Koschmann, Jessica Van Ziffle, Courtney Onodera, Patrick Devine, James P. Grenert, Julieann C. Lee, Melike Pekmezci, Joanna J. Phillips, Tarik Tihan, Andrew W. Bollen, Arie Perry, David A. Solomon
Erschienen in:
Acta Neuropathologica
|
Ausgabe 5/2019
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Excerpt
Somatic mutations in the
H3F3A and
HIST1H3B genes encoding the histone H3 variants H3.3 and H3.1, respectively, are important genetic drivers of diffuse gliomas in both children and adults. The recurrent p.K27M mutation in either
H3F3A or
HIST1H3B genes is found in the majority of diffuse gliomas centered in midline structures of the central nervous system including the thalamus, brainstem, and spinal cord where it is associated with poor prognosis irrespective of histologic grade [
9‐
11]. “Diffuse midline glioma, H3 K27M-mutant” was thus classified as a grade IV entity in the revised 2016 WHO Classification of Tumors of the Central Nervous System. In contrast, p.G34R or p.G34V mutation in the
H3F3A gene is found in a subset of glioblastomas located in the cerebral hemispheres of adolescents and young adults and is associated with a more favorable prognosis [
6,
8‐
10]. While the genetic landscape of supratentorial and brainstem gliomas has now been extensively characterized [
9,
11], the genetic drivers of spinal cord diffuse gliomas are less understood [
1]. Here we report genomic characterization of 13 spinal cord diffuse gliomas that identified recurrent non-canonical histone H3 mutations including
H3F3A p.G34W and
H3F3B p.K27I variants. …
