DICER1 syndrome: clinical variety endocrine manifestations and features of diagnostics
https://doi.org/10.14341/probl13383
Abstract
DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a dusfunction of the endoribonuclease DICER, which plays an important role in the processing of microRNAs with subsequent regulation of the control of the expression of oncogenes and tumor suppressor genes. Clinical manifestations of dyseropathies is very different and may include both endocrine manifestations – multinodular goiter, differentiated thyroid cancers, ovarian stromal tumors, pituitary blastoma, and non–endocrine formations — pleuropulmonary blastoma, cystic nephroma, pineoblastoma. The presence of somatic mutations of the DICER1 gene is a resultant stage in the pathogenesis of dyseropathies, determining the further path of oncogenesis. At present, DICER1 syndrome is diagnosed extremely rarely, which leads to late detection of the components of the disease in the patient, late diagnosis of neoplasms, lack of family counseling. Diagnosis at the early stages of the disease, the development of screening programs for the management of these patients allows minimizing the risks of developing more malignant, aggressive forms of the disease.
About the Authors
E. E. Novokreshennih
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Evgeniya E. Novokreshennih
11 Dm. Ulyanova street, 117036 Moscow
Competing Interests:
Авторы декларируют отсутствие конфликта интересов.
A. A. Kolodkina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anna A. Kolodkina, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие конфликта интересов.
O. B. Bezlepkina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Olga B. Bezlepkina, MD, PhD, Professor
Moscow
Competing Interests:
Авторы декларируют отсутствие конфликта интересов.
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1. Figure 1. Mechanism of action of endoribonuclease DICER1. | |
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Novokreshennih E.E., Kolodkina A.A., Bezlepkina O.B. DICER1 syndrome: clinical variety endocrine manifestations and features of diagnostics. Problems of Endocrinology. 2024;70(2):78-85. (In Russ.) https://doi.org/10.14341/probl13383
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