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[DICER1 syndrome: clinical variety endocrine manifestations and features of diagnostics]
E E Novokreshennih1, A A Kolodkina1, O B Bezlepkina1
1Endocrinology Research Centre.
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.
Insights
DICER1 syndrome, a rare genetic disorder, stems from DICER enzyme dysfunction, impacting microRNA regulation and leading to various childhood cancers. Early diagnosis and screening are crucial for managing this rare disease.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- DICER1 syndrome is a rare genetic disorder characterized by the development of various malignant and non-malignant diseases in childhood.
- It arises from the dysfunction of the endoribonuclease DICER, a key enzyme in microRNA processing that regulates oncogenes and tumor suppressor genes.
Purpose of the Study:
- To highlight the diverse clinical manifestations of DICER1 syndrome, encompassing both endocrine and non-endocrine tumors.
- To emphasize the role of somatic mutations in DICER1 gene in oncogenesis within this syndrome.
- To underscore the challenges in diagnosing DICER1 syndrome and the importance of early detection and screening.
Main Methods:
- Review of clinical manifestations associated with DICER1 gene dysfunction.
- Analysis of the role of microRNA dysregulation in the pathogenesis of DICER1 syndrome.
- Discussion of diagnostic challenges and the impact of somatic mutations.
Main Results:
- Clinical features are highly variable, including endocrine tumors (thyroid, ovarian, pituitary) and non-endocrine formations (pleuropulmonary blastoma, cystic nephroma, pineoblastoma).
- Somatic mutations in the DICER1 gene are critical in the progression of DICER1-related diseases.
- Current underdiagnosis leads to delayed detection of neoplasms and lack of genetic counseling.
Conclusions:
- Early diagnosis and proactive screening programs are essential for managing DICER1 syndrome.
- Timely intervention can significantly reduce the risk of developing aggressive forms of associated cancers.
- Improved awareness and diagnostic strategies are needed for this rare genetic disorder.
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