Identification of medulloblastoma molecular subgroups by gene expression profiling

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Abstract

Clinical heterogeneity of medulloblastoma is based on differences in the molecular landscape of the tumor, which include gene expression and DNA methylation profiles and mutational spectrum. WHO classification of CNS malignancies developed in 2016 implies segregation of medulloblastoma entity into 4 distinct molecular subgroups: WNT, SHH, group 3 and group 4. This division defines clinical presentation, response to therapy, risk of tumor recurrence and presents a basis for individualized and risk-adapted treatment conduction. Molecular genetic techniques for medulloblastoma subgrouping are based either on gene expression profiling or investigation of whole-genome DNA methylation. Method used in clinical practice should be reliable, fast, undemanding for preanalytic procedures and robust. For these reasons gene expression analysis by NanoString technology can be designated. In the current study we present the first Russian experience in the molecular classification of medulloblastoma based on gene expression profiling by Nanostring technique. The retrospective analysis of 65 pathologically verified medulloblastoma samples was performed. Among these cases WNT subgroup was revealed in 8, SHH – in 15, group 3 – in 16 and group 4 in 26 patients. The subgroup distribution as well as clinical significance of each tumor type corresponded to the literature data. Notable, that NanoString technology allowed achieving reliable data on gene expression from complicated material – formalin-fixed paraffin embedded tissue.

About the authors

A. E. Druy

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

Author for correspondence.
Email: Dr-Drui@yandex.ru
ORCID iD: 0000-0003-1308-8622

MD, PhD, senior researcher

Russia 117997, Moscow, Samory Mashela st., 1

+7 (495) 287-6570, ext. 5427

Russian Federation

L. A. Yasko

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

ORCID iD: 0000-0003-3007-3772
Russian Federation

D. M. Konovalov

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

Russian Federation

A. P. Ektova

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

Russian Federation

E. F. Valiakhmetova

N.N. Burdenko National Research Center of Neurosurgery

Russian Federation

Y. V. Olshanskaya

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

ORCID iD: 0000-0002-2352-7716
Russian Federation

A. A. Maschan

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

ORCID iD: 0000-0002-0016-6698
Russian Federation

G. A. Novichkova

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

ORCID iD: 0000-0002-2322-5734
Russian Federation

L. I. Papusha

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

ORCID iD: 0000-0001-7750-5216
Russian Federation

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Copyright (c) 2017 Druy A.E., Yasko L.A., Konovalov D.M., Ektova A.P., Valiakhmetova E.F., Olshanskaya Y.V., Maschan A.A., Novichkova G.A., Papusha L.I.

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