Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review
| Autor: | Ping Wu, Chunhua Zhang, Xueshu Fu, Xuan Zhou, Ling Wu, Ying Liu, Yanglin Ni, Yinnan Li, Li Cai |
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| Rok vydání: | 2021 |
| Předmět: |
Pharmacology
Mutation multinodular goiter Goiter Sertoli-Leydig cell tumor medicine.diagnostic_test business.industry Cystic nephroma Nonsense mutation DICER1 medicine.disease Bioinformatics medicine.disease_cause Germline medicine case report Molecular Medicine cystic nephroma business Sertoli-Leydig Cell Tumor Genetic testing DICER1 Syndrome |
| Zdroj: | Pharmacogenomics and Personalized Medicine |
| ISSN: | 1178-7066 |
| DOI: | 10.2147/pgpm.s317153 |
| Popis: | Introduction DICER1 syndrome is a rare tumor predisposition syndrome caused by germline DICER1 mutation, which is related to a variety of benign and malignant diseases. Our report is the first described case of these three disease phenotypes of DICER1 syndrome. The female patient with a novel germline DICER1 nonsense mutation (c.1088_1089delCTinsAA p.F363X) in exon 8 that was inherited from her mother. In addition to germline DICER1 mutation, two different hotspot somatic DICER1 mutations were detected in her ovarian tissue and goiter tissue. Our report will expand the report of DICER1 mutations in DICER1-syndrome-related diseases and provide case references for further research in the future. Conclusion When the related disease phenotype appears in childhood, it should be considered whether it is DICER1 syndrome. Genetic testing can help diagnose DICER1 syndrome and develop related surveillance strategies. Awareness of the DICER1 syndrome may result in early recognition of these rare pediatric tumors and appropriate therapeutic management. |
| Databáze: | OpenAIRE |
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