DICER1 Syndrome


Authors: Věra Hořínová 1,2;  Klára Drábová 3,4;  Hana Nosková 5;  Viera Bajčiová 4;  Jana Šoukalová 3;  Leona Černá 6;  Věra Hůrková 7;  Ondřej Slabý 8;  Jaroslav Štěrba 4
Authors‘ workplace: Ambulance lékařské genetiky, Nemocnice Jihlava 1;  Reprofit, Brno 2;  Oddělení lékařské genetiky, FN Brno 3;  Klinika dětské onkologie, FN Brno 4;  CEITEC – Středoevropský technologický institut, Masarykova univerzita a FN Brno 5;  Gennet, Praha 6;  PREDIKO, Zlín 7;  Klinika komplexní onkologické péče, Masarykův onkologický ústav, Brno 8
Published in: Klin Onkol 2019; 32(Supplementum2): 123-127
Category: Case Report
doi: 10.14735/amko2019S123

Overview

DICER1 syndrome is an inherited disorder that increases the risk of different types of malignant and benign tumors. The syndrome is caused by mutations in the DICER1 gene, which is located on the long arm of chromosome 14, region q32.13. Patients with DICER1 syndrome commonly develop pleuropulmonary blastoma (PPB), multinodular goiter, ovarian Sertoli–Leydig cell tumors, and/or other types of tumors. In approximately 35% of families with children manifesting PPB, further (and rather rare) malignancies may be observed, including cystic nephroma, nodular dysplasia of the thyroid gland, medulloepithelioma of the iris, embryonal rhabdomyosarcoma botryoid type, nasal epithelial hamartoma, pituitary blastoma, and/or pineoblastoma. Large studies report a high variability of tumors associated with DICER1. DICER1 syndrome, which is associated with an inherited predisposition to tumors, is inherited in an autosomal dominant pattern. Symptoms of DICER1 syndrome may vary, even within families. Preventive screening of carriers with causative mutations is complicated. Follow-up is undertaken as recommended by the 2016 International PPB Register.

This work was supported by grant of Ministry of Health of the Czech Republic AZV 16-3329A.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers.

Submitted: 4. 6. 2019

Accepted: 6. 6. 2019

Keywords:

genetic testing – hereditary cancer syndromes – DICER1 – pleuropulmonary blastoma – cystic nephroma


Sources

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Labels
Paediatric clinical oncology Surgery Clinical oncology

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Clinical Oncology

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