Molecular Profiling of Pediatric and Adult Glioblastoma.

American Journal of Clinical Pathology
Catherine K GestrichMarta E Couce

Abstract

Although glioblastoma (GBM) is rare in the pediatric population, it is the most common cause of death among children with central nervous system neoplasms. Recent molecular profiling of these neoplasms has demonstrated distinct differences in comparison to their adult counterparts. Moreover, many pediatric GBMs occur within the context of cancer predisposition syndromes, such as constitutional mismatch repair deficiency syndrome (CMMRD). Children with CMMRD who develop GBM exhibit a high tumor mutational burden and may benefit from treatment with immune checkpoint inhibitors. We performed next-generation sequencing and immunohistochemistry for mismatch repair proteins in our cohort of pediatric and adult GBMs to further characterize the molecular profiles of these groups. We examined a total of 11 pediatric and 11 adult GBMs. Pediatric patients had a higher number of alterations compared to their adult counterparts. They also had a higher frequency of alterations in the mismatch repair genes, which can be detected by immunohistochemistry (IHC). We also identified one pediatric patient with CMMRD syndrome. Our study highlighted the distinct molecular differences between pediatric and adult GBM. We also demonstrated that pediatri...Continue Reading

References

Apr 17, 2014·Journal of Medical Genetics·Katharina WimmerUNKNOWN EU-Consortium Care for CMMRD (C4CMMRD)
Aug 22, 2015·International Journal of Cancer. Journal International Du Cancer·Nisreen AmayiriUNKNOWN BMMRD Consortium
Mar 24, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Eric BouffetUri Tabori
Sep 27, 2016·Clinical Journal of Oncology Nursing·Mary Elizabeth Davis
Jun 3, 2017·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Uri TaboriLaurence Brugières
Sep 20, 2017·Journal of Neuropathology and Experimental Neurology·Linda M ForsströmLauri A Aaltonen
Nov 25, 2017·Seminars in Cancer Biology·Olga Gusyatiner, Monika E Hegi
Mar 17, 2018·Seminars in Neurology·Mariella G Filbin, Dominik Sturm
May 11, 2018·Journal of Korean Neurosurgical Society·Orli Michaeli, Uri Tabori
Sep 10, 2018·Acta Neuropathologica·Giselle Y LópezDavid A Solomon

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Citations

Sep 1, 2021·American Journal of Clinical Pathology·Douglas C Miller

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