Mosaic neurofibromatosis type 1 in a 13-year-old child: description of a clinical case
G. B. Sagoyan,
A. R. Zabrodina,
N. A. Semenova,
A. M. Suleymanova,
V. V. Strelnikov,
V. V. Martynenko,
A. M. Pivovarova,
O. V. Bozhko,
S. V. Bochenkov,
S. R. Varfolomeeva,
M. Yu. Dorofeeva https://doi.org/10.21682/2311-1267-2025-12-3-120-125
Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant, highly penetrant disorder caused by pathogenic variants (mutations) in the NF1 gene. Mosaic NF1 is a distinct form of this disorder. Somatic mosaicism in NF1 is a rare condition caused by postzygotic pathogenic variants in the NF1 gene. The article presents a clinical case of mosaic NF1 in a 13-year-old child.
Supporting agencies: The study was performed without external funding
About the Authors
G. B. Sagoyan
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation
Russian Federation
Researcher, Pediatric Oncologist, Pediatric Oncology Department No. 1 (Chemotherapy of Tumors of Thoracoabdominal Localization) of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov at N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia.
23 Kashirskoe Shosse, Moscow, 115522
A. R. Zabrodina
Yu.E. Veltishchev Research Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov National Research Medical University Ministry of Health of Russia
Russian Federation
Russian Federation
Pediatrician, Yu.E. Veltishchev Research Institute of Pediatrics and Pediatric Surgery.
125412, Moscow, Taldomskaya St., 2
N. A. Semenova
N.P. Bochkov Research Centre for Medical Genetics, Ministry of Health of Russia
Russian Federation
Russian Federation
Cand. of Sci. (Med.), Leeading Research Assistant.
1 Moskvorechye St., Moscow, 115522
A. M. Suleymanova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation
Russian Federation
Researcher, Pediatric Oncologist, Pediatric Oncology Department No. 1 (Chemotherapy of Tumors of Thoracoabdominal Localization) of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov at N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia.
23 Kashirskoe Shosse, Moscow, 115522
V. V. Strelnikov
N.P. Bochkov Research Centre for Medical Genetics, Ministry of Health of Russia; N.I. Pirogov National Research Medical University Ministry of Health of Russia
Russian Federation
Russian Federation
Dr. of Sci. (Biol.), Associate Professor, Head of the Laboratory of Epigenetics at N.P. Bochkov Research Centre for Medical Genetics, Ministry of Health of Russia, Professor of the Department of General and Medical Genetics of the Institute of Biomedicine of the N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia.
1 Moskvorechye St., Moscow, 115522; 1 Ostrovityanova St., Moscow, 117513
V. V. Martynenko
Bryansk Regional Children’s Hospital
Russian Federation
Russian Federation
Cand. of Sci. (Med.), Pediatric Oncologist, Department of Oncology, Hematology and Chemotherapy at Bryansk Regional Children’s Hospital.
100 Prosp. Stanke Dimitrova, Bryansk, 241033
A. M. Pivovarova
Yu.E. Veltishchev Research Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov National Research Medical University Ministry of Health of Russia
Russian Federation
Russian Federation
Cand. of Sci. (Med.), Neurologist.
125412, Moscow, Taldomskaya St., 2
O. V. Bozhko
Yu.E. Veltishchev Research Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov National Research Medical University Ministry of Health of Russia
Russian Federation
Russian Federation
Cand. of Sci. (Med.), Radiologist.
125412, Moscow, Taldomskaya St., 2
S. V. Bochenkov
Yu.E. Veltishchev Research Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov National Research Medical University Ministry of Health of Russia
Russian Federation
Russian Federation
Head of the Pediatric Department of Congenital and Hereditary Diseases.
125412, Moscow, Taldomskaya St., 2
S. R. Varfolomeeva
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation
Russian Federation
Dr. of Sci. (Med.), Professor, Director of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov at N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia.
23 Kashirskoe Shosse, Moscow, 115522
M. Yu. Dorofeeva
Yu.E. Veltishchev Research Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov National Research Medical University Ministry of Health of Russia
Russian Federation
Russian Federation
Cand. of Sci. (Med.), Neurologist.
125412, Moscow, Taldomskaya St., 2
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For citations:
Sagoyan G.B., Zabrodina A.R., Semenova N.A., Suleymanova A.M., Strelnikov V.V., Martynenko V.V., Pivovarova A.M., Bozhko O.V., Bochenkov S.V., Varfolomeeva S.R., Dorofeeva M.Yu. Mosaic neurofibromatosis type 1 in a 13-year-old child: description of a clinical case. Russian Journal of Pediatric Hematology and Oncology. 2025;12(3):120-125. (In Russ.) https://doi.org/10.21682/2311-1267-2025-12-3-120-125
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