Case Reports:
Histological and molecular analysis of a progressive diffuse intrinsic pontine glioma and synchronous metastatic lesions: a case report
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Abstract
Javad Nazarian1,2, Gary E. Mason3, Cheng Ying Ho4, Eshini Panditharatna1,6, Madhuri Kambhampati1, L. Gilbert Vezina5, Roger J. Packer7 and Eugene I. Hwang8
1 Center for Genetic Medicine Research, Children’s National Medical Center, Washington, DC, USA
2 Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA
3 University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
4 Department of Pathology, Children’s National Medical Center, Washington, DC, USA
5 Division of Neuro-radiology, Children’s National Medical Center, Washington, DC, USA
6 Institute for Biomedical Sciences, George Washington University School of Medicine and Health Sciences, Washington, DC, USA
7 Brain Tumor Institute, Daniel and Jennifer Gilbert Neurofibromatosis Institute, Neuroscience and Behavioral Medicine, Children’s National Medical Center, NW, Washington, DC, USA
8 Center for Cancer and Blood Disorders, Children’s National Medical Center, Washington, DC, USA
Correspondence to:
Eugene I. Hwang, email:
Keywords: DIPG, metastasis, molecular, phenotype, autopsy tissue, Pathology Section
Received: December 01, 2015 Accepted: May 25, 2016 Published: June 14, 2016
Abstract
There is no curative treatment for patients with diffuse intrinsic pontine glioma (DIPG). However, with the recent availability of biopsy and autopsy tissue, new data regarding the biologic behavior of this tumor have emerged, allowing greater molecular characterization and leading to investigations which may result in improved therapeutic options. Treatment strategies must address both primary disease sites as well as any metastatic deposits, which may be variably sensitive to a particular approach.
In this case report, we present a patient with DIPG treated with irradiation and serial investigational agents. The clinical, pathological and molecular phenotypes of both the progressive primary tumor as well as concomitant metastatic deposits obtained at autopsy are discussed. While some mRNA differences were demonstrated, all analyzed sites of disease shared similar mutational arrangements, suggesting that targeting the mutations of the primary tumor may be effective for all sites of disease.

PII: 10034