Syndrom DICER1

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Title in English DICER1 Syndrome
Authors

HOŘÍNOVÁ Věra DRÁBOVÁ Klára NOSKOVÁ Hana BAJČIOVÁ Viera ŠOUKALOVÁ Jana ČERNÁ Leona HŮRKOVÁ Věra SLABÝ Ondřej ŠTĚRBA Jaroslav

Year of publication 2019
Type Article in Periodical
Magazine / Source Klinická onkologie
MU Faculty or unit

Faculty of Medicine

Citation
Web https://www.linkos.cz/casopis-klinicka-onkologie/2019-08-18-supplementum-2/syndrom-dicer1/
Doi http://dx.doi.org/10.14735/amko2019S123
Keywords genetic testing; hereditary cancer syndromes; DICER1; pleuropulmonary blastoma; cystic nephroma
Description 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.
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