Low-grade gliomas with the V600E mutation in the BRAF gene in children: clinical features and treatment options

L. I. Papusha; Папуша Л. И.; E. F. Valiakhmetova; Валиахметова Э. Ф.; A. E. Druy; Друй А. Е.; L. A. Yasko; Ясько Л. А.; K. A. Voronin; Воронин К. А.; M. A. Zaitseva; Зайцева М. А.; E. A. Salnikova; Сальникова Е. А.; E. V. Raikina; Райкина Е. В.; G. A. Novichkova; Новичкова Г. А.; A. I. Karachunsky; Карачунский А. И.

doi:10.24287/1726-1708-2020-19-4-58-65

Low-grade gliomas with the V600E mutation in the BRAF gene in children: clinical features and treatment options

Authors: Papusha L.I.¹, Valiakhmetova E.F.¹^,2, Druy A.E.¹, Yasko L.A.¹, Voronin K.A.¹, Zaitseva M.A.¹, Salnikova E.A.¹, Raikina E.V.¹, Novichkova G.A.¹, Karachunsky A.I.¹
Affiliations:
1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
2. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Healthcare of the Russian Federation
Issue: Vol 19, No 4 (2020)
Pages: 58-65
Section: ORIGINAL ARTICLES
Submitted: 20.12.2020
Accepted: 20.12.2020
Published: 08.07.2025
URL: https://hemoncim.com/jour/article/view/419
DOI: https://doi.org/10.24287/1726-1708-2020-19-4-58-65
ID: 419

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Abstract

The main pathogenetic mechanism of the development of pediatric low grade gliomas (pLGGs) is genetic aberrations in BRAF gene. This study is supported by the Independent Ethics Committee and approved by the Academic Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology. We analyzed the clinical and molecular characteristics of 69 patients with LGGs. Molecular genetic testing for BRAF V600E mutation was performed by allele-specific real-time PCR and Sanger sequencing. BRAF V600E mutation was detected in 15 (21.7%) patients with LGG. The majority of BRAF-mutated cases of LGGs had the midline location: OPG – 7, subcortical ganglia – 1, brainstem – 2. The 2-year PFS was much worse in patients with BRAF V600E compared to patients without this mutation – 30% and 66.2%, respectively. The median time to progression for patients with BRAF V600E mutation was 9.5 months compared to 3.1 years for patients without indicated substitution. 5 patients with BRAF V600E-mutated LGGs who experienced progression after the conventional treatment, received targeted therapy (BRAF-inhibitor-3, BRAF + MEK inhibitors – 2) with good response (complete response – 2, partial response – 3). BRAF V600E mutation contributes to poor outcome in patients with LGGs Targeted therapy could be effective in this cohort of patients.

Keywords

low-grade gliomas, children, targeted therapy, BRAF gene, V600E mutation

About the authors

L. I. Papusha

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: ludmila.mur@mail.ru
ORCID iD: 0000-0001-7750-5216

Ludmila I. Papusha, Cand. of Sci. (Med.), Senior Physician, Head of the Department of Optimization of CNS Tumor Therapy

1 Samory Mashela St., Moscow 117997

Russian Federation

E. F. Valiakhmetova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation; N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-2977-665X
Moscow Russian Federation

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