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. IvanovaRussian 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
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
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
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
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
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
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
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
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
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
Russian Federation
first year Resident Doctor in the specialty “Pediatric Oncology”
1/9 4th Dobryninskiy Per., Moscow, 119049
S. N. Mikhailova
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
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
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