DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report
I. G. Sichinava,
E. S. Demina,
E. M. Sharibzhanova,
F. K. Ismailova,
A. G. Gvozdkova,
D. O. Korostin,
E. E. Petryaykina,
A. N. Tiulpakov https://doi.org/10.14341/probl13501
Abstract
DICER1 syndrome is a rare monogenic disease with autosomal dominant inheritance. DICER1 protein is involved in the regulation of gene expression by microRNAs. Changes in the expression of DICER1 can be associated with various cancers. A 13,8-year-old girl with a history of embryonal rhabdomyosarcoma (ERMS) of uterine cervix and vagina excised at 6 months of age is presented with a thyroid follicular nodular disease (TFND). Molecular genetic examination revealed a heterozygous pathogenic variant p.Arg1003Ter in the DICER1 gene (NM_030621.4). The presented case emphasizes the importance of molecular genetic diagnosis of DICER1 syndrome in a diagnostic algorithm in the management of patients with TFND and history of malignancy. Considering ERMS of genital tract as a probable component of DICER1 syndrome it is necessary to screen for other manifestations of the disease as well.
About the Authors
I. G. Sichinava
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Irina G. Sichinava, PhD
1 Ostrovityanova street, 117513 Moscow
E. S. Demina
Pirogov Russian National Research Medical University;
Russian Children’s Clinical Hospital
Russian Federation
Russian Federation
Elena S. Demina, PhD
Moscow
E. M. Sharibzhanova
Russian Children’s Clinical Hospital
Russian Federation
Russian Federation
Evgenia V. Sharibzhanova
Moscow
F. K. Ismailova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Fariza K. Ismailova
Moscow
A. G. Gvozdkova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Anastasia G. Gvozdkova
Moscow
D. O. Korostin
Center for Precision Genome Editing and Genetic Technologies for Biomedicine
Russian Federation
Russian Federation
Dmitriy O. Korostin, PhD
Moscow
E. E. Petryaykina
Pirogov Russian National Research Medical University; Russian Children’s Clinical Hospital
Russian Federation
Russian Federation
Elena E. Petryaykina, MD, PhD, Professor
Moscowи
A. N. Tiulpakov
Russian Children’s Clinical Hospital;
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Anatoly N. Tiulpakov, MD, PhD, Professor
Moscow
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For citations:
Sichinava I.G., Demina E.S., Sharibzhanova E.M., Ismailova F.K., Gvozdkova A.G., Korostin D.O., Petryaykina E.E., Tiulpakov A.N. DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report. Problems of Endocrinology. 2025;71(3):46-50. (In Russ.) https://doi.org/10.14341/probl13501
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