Email this article Clinicogenomic associations in patients with Langerhans cell histiocytosis: a cohort study
- Authors: Osipova D.S.1, Raykina E.V.1, Kozlova Y.A.1, Lyudovskikh E.I.1, Evseev D.A.1, Kalinina I.I.1, Baydildina D.D.1, Voronin K.A.1, Maschan A.A.1, Maschan M.A.1
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Affiliations:
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
- Issue: Vol 22, No 4 (2023)
- Pages: 102-107
- Section: ORIGINAL ARTICLES
- Submitted: 18.09.2023
- Accepted: 17.10.2023
- Published: 20.12.2023
- URL: https://hemoncim.com/jour/article/view/760
- DOI: https://doi.org/10.24287/1726-1708-2023-22-4-102-107
- ID: 760
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Abstract
This article presents an analysis of genotype and phenotype correlations in a pediatric cohort with Langerhans cell histiocytosis (LCH). Approximately 60% of LCH patients carry BRAF V600E somatic point mutation. Numerous studies have demonstrated that the presence of this mutation is associated with a more severe course of the disease and a higher risk of relapse. Apart from BRAF V600E mutation, other mutations in genes involved in the RAS/RAF/MEK/ERK signaling pathway have been identified in LCH. Next generation sequencing of DNA with high coverage of target regions is considered an optimal approach to detect somatic mutations other than BRAF V600E. The identification of somatic driver mutations holds great potential for enhancing our understanding of the phenotypic heterogeneity of LCH and developing targeted therapeutic strategies. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology.
About the authors
D. S. Osipova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Author for correspondence.
Email: darya.osipova@fccho-moscow.ru
ORCID iD: 0000-0002-9968-9332
Daria S. Osipova, a research technician at the Laboratory of Molecular Biology
1 Samory Mashela St., Moscow 117997
Russian FederationE. V. Raykina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: e_raikina@inbox.ru
ORCID iD: 0000-0002-7634-2053
Moscow
Russian FederationYu. A. Kozlova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: ucheb16@mail.ru
ORCID iD: 0009-0006-5928-8557
Moscow
Russian FederationE. I. Lyudovskikh
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: evcola@yandex.ru
ORCID iD: 0000-0003-0717-2019
Moscow
Russian FederationD. A. Evseev
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: dmitry.evseev@fccho-moscow.ru
ORCID iD: 0000-0001-8610-0624
Moscow
Russian FederationI. I. Kalinina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: Irina.Kalinina@fccho-moscow.ru
ORCID iD: 0000-0002-0813-5626
Moscow
Russian FederationD. D. Baydildina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: Dina.Baydildina@fccho-moscow.ru
ORCID iD: 0000-0001-7130-8596
Moscow
Russian FederationK. A. Voronin
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: kirill.voronin@fccho-moscow.ru
ORCID iD: 0000-0001-7578-9657
Moscow
Russian FederationA. A. Maschan
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: Aleksey.Maschan@fccho-moscow.ru
ORCID iD: 0000-0002-0016-6698
Moscow
Russian FederationM. A. Maschan
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: Michael.Maschan@fccho-moscow.ru
ORCID iD: 0000-0003-1735-0093
Moscow
Russian FederationReferences
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