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Familial DICER1 syndrome with thyroid pathology. A series of clinical cases

https://doi.org/10.21682/2311-1267-2023-10-4-49-60

Abstract

Thyroid diseases in childhood occupy the second place after obesity in the structure of the general pathology of the endocrine system, eating disorders and metabolic disorders in children in the Russian Federation. Thyroid cancer in children makes up from 1.5 to 3 % of all malignant tumors, and from 8 to 22 % of malignant solid tumors of the head and neck, and the younger the child’s age, the more aggressive the disease proceeds.

Familial forms of thyroid diseases may be associated with geographical features (living in iodine-deficient regions), but may also be part of hereditary syndromes, such as: multiple endocrine neoplasia syndromes (Sipple syndrome, Gorner syndrome, familial medullary thyroid cancer), DICER1 syndrome, Gardner syndrome, Cowden syndrome, McCune–Albright–Braitsev syndrome et al.

This article describes several cases of thyroid pathology associated with DICER1 syndrome.

About the Authors

N. V. Ivanova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Pediatric Surgeon Surgical Department No. 1 (Head and Neck Tumors) of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov

23 Kashirskoe Shosse, Moscow, 115522



E. E. Zelenova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia; Peoples’ Friendship University of Russia named after Patrice Lumumba
Russian Federation

Geneticist Polyclinic Department Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov; Intern Researcher Research and Educational Resource Center “High-Performance Methods of Genomic Analysis”

23 Kashirskoe Shosse, Moscow, 115522

6 Miklukho-Maklaya St., Moscow, 117198



V. G. Polyakov
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia; Russian Medical Academy of Continuous Professional Education, Ministry of Health of Russia; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation

: Academician of RAS, Dr. of Sci. (Med.), Professor, Advisor to the Director and Head of the Surgical Department No. 1 (Head and Neck Tumors) of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov; Head of the Pediatric Oncology Department named after Academician L.A. Durnov; Professor of the Department of Otorhinolaryngology Faculty of Pediatrics

23 Kashirskoe Shosse, Moscow, 115522

Bldg. 1, 2/1 Barrikadnaya St., Moscow

1 Ostrovityanova St., Moscow, 117997



A. Yu. Lozovaya
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation

Pediatric Oncologist Surgical Department No. 1 (Head and Neck Tumors) of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov

23 Kashirskoe Shosse, Moscow, 115522



V. V. Semenova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia; Engelhardt Institute of Molecular Biology, Russian Academy of Sciences
Russian Federation

Geneticist Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov; Graduate Student of the Laboratory of Biological Microchips

23 Kashirskoe Shosse, Moscow, 115522

32 Vavilova St., Moscow, 119991



V. M. Kozlova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation

Consultant of the Polyclinic Department Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov

23 Kashirskoe Shosse, Moscow, 115522



V. A. Korolev
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Otorhinolaryngologist Surgical Department No. 1 (Head and Neck Tumors) of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov

23 Kashirskoe Shosse, Moscow, 115522



T.  L. Ushakova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia; Russian Medical Academy of Continuous Professional Education, Ministry of Health of Russia
Russian Federation

Dr. of Sci. (Med.), Leading Researcher Surgical Department No. 1 (Head and Neck Tumors) of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov; Professor at the Department of Pediatric Oncology named after Academician L.A. Durnov

23 Kashirskoe Shosse, Moscow, 115522

Bldg. 1, 2/1 Barrikadnaya St., Moscow



T. R. Panferova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Senior Researcher of the Pediatric Radiology Department of Consultative and Diagnostic Center

23 Kashirskoe Shosse, Moscow, 115522



N. A. Kozlov
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Pathologist Pathological Department of the Department of Morphological and Molecular-Genetic Diagnostics of Tumors

23 Kashirskoe Shosse, Moscow, 115522



A. S. Bidulya
Morozovskaya Children’s Clinical Hospital of the Moscow City Healthcare Department
Russian Federation

first year Resident Doctor in the specialty “Pediatric Oncology”

1/9 4th Dobryninskiy Per., Moscow, 119049



S. N. Mikhailova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Head of Polyclinic Department Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov

23 Kashirskoe Shosse, Moscow, 115522



M. V. Rubanskaya
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Head of the Pediatric Oncology Department № 1 (Chemotherapy of Tumors of Thoracoabdominal Localization) of Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov

23 Kashirskoe Shosse, Moscow, 115522



S.  R. Varfolomeeva
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia; Russian Medical Academy of Continuous Professional Education, Ministry of Health of Russia
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; Professor at the Department of Pediatric Oncology named after Academician L.A. Durnov

23 Kashirskoe Shosse, Moscow, 115522

Bldg. 1, 2/1 Barrikadnaya St., Moscow



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Review

For citations:


Ivanova N.V., Zelenova E.E., Polyakov V.G., Lozovaya A.Yu., Semenova V.V., Kozlova V.M., Korolev V.A., Ushakova T.L., Panferova T.R., Kozlov N.A., Bidulya A.S., Mikhailova S.N., Rubanskaya M.V., Varfolomeeva S.R. Familial DICER1 syndrome with thyroid pathology. A series of clinical cases. Russian Journal of Pediatric Hematology and Oncology. 2023;10(4):49-60. (In Russ.) https://doi.org/10.21682/2311-1267-2023-10-4-49-60

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ISSN 2311-1267 (Print)
ISSN 2413-5496 (Online)
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