Pharmacogenomics and Personalized Medicine (Aug 2021)
Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review
Abstract
Yanglin Ni,1 Xuan Zhou,2 Ling Wu,3 Ping Wu,3 Ying Liu,3 Yinnan Li,3 Li Cai,3 Xueshu Fu,3 Chunhua Zhang3 1Department of Gynaecology, Huai’an Hospital of Traditional Chinese Medicine, Huai’an, Jiangsu Province, People’s Republic of China; 2MyGenostics Inc., Beijing, People’s Republic of China; 3Department of Gynaecology, Huai’an Maternal and Child Health Hospital, Huai’an, Jiangsu Province, People’s Republic of ChinaCorrespondence: Chunhua ZhangDepartment of Gynaecology, Huai’an Maternal and Child Health Hospital, Huai’an, Jiangsu Province, People’s Republic of ChinaTel +8613952326117Email [email protected]: 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.Keywords: case report, DICER1, Sertoli-Leydig cell tumor, multinodular goiter, cystic nephroma
