Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series

Neuro-oncology
Daniel I JacobsMelissa L Bondy

Abstract

The genomic characterization of sporadically arising gliomas has delineated molecularly and clinically distinct subclasses of disease. However, less is known about the molecular nature of gliomas that are familial in origin. We performed molecular subtyping of 163 tumor specimens from individuals with a family history of glioma and integrated germline and somatic genomic data to characterize the pathogenesis of 20 tumors in additional detail. Immunohistochemical analyses were performed on formalin-fixed, paraffin-embedded tumor sections to determine molecular subtypes of glioma. For 20 cases, tumor DNA was exome sequenced on an Illumina HiSeq 2000 platform and copy number profiling was performed on the Illumina HumanOmniExpress BeadChip. Genotypes at glioma risk polymorphisms were determined from germline DNA profiled on the Illumina Infinium OncoArray and deleterious germline mutations were identified from germline sequencing data. All 3 molecular subtypes of sporadic glioma were represented in the overall case series, including molecular glioblastoma (n = 102), oligodendroglioma (n = 21), and astrocytoma (n = 20). Detailed profiling of 20 of these cases showed characteristic subtype-specific alterations at frequencies compara...Continue Reading

References

Apr 1, 1995·Brain Pathology·D N Louis, A von Deimling
Mar 2, 1994·Journal of the National Cancer Institute·A P KyritsisH Saya
Apr 21, 1999·International Journal of Cancer. Journal International Du Cancer·B MalmerR Henriksson
May 8, 2000·American Journal of Medical Genetics·I TachibanaR B Jenkins
Oct 5, 2001·Nature Genetics·Y WuR M Hofstra
Sep 15, 2007·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Beatrice MalmerMelissa Bondy
Nov 17, 2007·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Michael E ScheurerMelissa L Bondy
Sep 19, 2008·Cancer·Melissa L BondyUNKNOWN Brain Tumor Epidemiology Consortium
Sep 24, 2008·Neurology·Deborah T Blumenthal, Lisa A Cannon-Albright
Oct 3, 2008·Genome Biology·Huawei XinZhou Songyang
May 5, 2009·The Lancet Oncology·Hilde BremsEric Legius
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
May 11, 2010·Familial Cancer·Lindsay B RobertsonRichard S Houlston
Jun 23, 2010·Genome Biology·Matthew N BainbridgeRichard A Gibbs
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Sep 15, 2010·Proceedings of the National Academy of Sciences of the United States of America·Peter Van LooVessela N Kristensen
Feb 22, 2012·American Journal of Human Genetics·Akio TanakaJohn A McGrath
Aug 14, 2012·Human Genetics·Preetha RajaramanStephen J Chanock
Jan 8, 2013·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Siegal SadetzkiUNKNOWN Gliogene Consortium
Feb 12, 2013·Nature Biotechnology·Kristian CibulskisGad Getz
Mar 19, 2013·Nature Genetics·Andrew J RamsayCarlos López-Otín
Mar 27, 2013·Proceedings of the National Academy of Sciences of the United States of America·Patrick J KillelaHai Yan
Oct 15, 2013·Cell·Cameron W BrennanUNKNOWN TCGA Research Network
May 21, 2014·Neuro-oncology·Quinn T OstromJill S Barnholtz-Sloan
Dec 9, 2014·Journal of the National Cancer Institute·Matthew N BainbridgeUNKNOWN Gliogene Consortium
Feb 24, 2015·Human Mutation·Alex H RamosGad Getz
Apr 8, 2015·Nature Genetics·Hiromichi SuzukiSeishi Ogawa
Jun 11, 2015·The New England Journal of Medicine·UNKNOWN Cancer Genome Atlas Research NetworkJianan Zhang
Jun 11, 2015·The New England Journal of Medicine·Jeanette E Eckel-PassowRobert B Jenkins
Aug 30, 2016·Nature Genetics·Sayantan DasChristian Fuchsberger
Oct 19, 2017·Neuro-oncology·Vanessa Y RuizUNKNOWN Gliogene Consortium

❮ Previous
Next ❯

Citations

Sep 30, 2020·Cancers·Yangxiu WuRoger R Reddel
May 10, 2019·Cancer Causes & Control : CCC·Peter T CampbellShuji Ogino
Oct 12, 2020·Clinical Neurology and Neurosurgery·Anca-Mihaela VasilicaGeorge Samandouras
Dec 7, 2021·Journal of Neurological Surgery. Part A, Central European Neurosurgery·Angelika Stapińska-SyniecMichał Sobstyl

❮ Previous
Next ❯

Related Concepts

Related Feeds

Brain Lower Grade Glioma

Low grade gliomas in the brain form from oligodendrocytes and astrocytes and are the slowest-growing glioma in adults. Discover the latest research on these brain tumors here.

Cancer Stem Cells in Glioblastoma

Glioblastoma is the most common and aggressive type of brain tumor. It contains a population of tumor initiating stem cell-like cells known as cancer stem cells. Investigations are ongoing into these cancer stem cells found in these solid tumors which are highly resistance to treatment. Here is the latest research on cancer stem cells in glioblastoma.

Cancer Genomics (Keystone)

Cancer genomics approaches employ high-throughput technologies to identify the complete catalog of somatic alterations that characterize the genome, transcriptome and epigenome of cohorts of tumor samples. Discover the latest research using such technologies in this feed.

Astrocytes

Astrocytes are glial cells that support the blood-brain barrier, facilitate neurotransmission, provide nutrients to neurons, and help repair damaged nervous tissues. Here is the latest research.