ORIGINAL CONTRIBUTION DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors
نویسندگان
چکیده
Thomas Rio Frio, PhD Amin Bahubeshi, BSc Chryssa Kanellopoulou, PhD Nancy Hamel, MSc Marek Niedziela, MD, PhD Nelly Sabbaghian, MSc Carly Pouchet, MSc Lucy Gilbert, MD, MSc Paul K. O’Brien, MB Kim Serfas, MSc Peter Broderick, PhD Richard S. Houlston, MD, PhD Fabienne Lesueur, PhD Elena Bonora, PhD Stefan Muljo, PhD R. Neil Schimke, MD Dorothée Bouron-Dal Soglio, MD, PhD Jocelyne Arseneau, MD Kris Ann Schultz, MD, MS John R. Priest, MD, MBA Van-Hung Nguyen, MD H. Rubén Harach, MD, PhD David M. Livingston, MD William D. Foulkes, MBBS, PhD Marc Tischkowitz, MD, PhD
منابع مشابه
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
CONTEXT Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but little is known about the underlying genetic susceptibility to this disease. Familial cases of MNG have been reported, and published reports describe 5 families that also contain at least 1 individual with a Sertoli-Leydig cell tumor of the ovary (SLCT). Germline mutations in DICER1, a gene that cod...
متن کاملA novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report
INTRODUCTION Germ-line mutations in the micro-ribonucleic acid processing gene DICER1 have been shown to predispose to a subset of benign tumors susceptible to malignant transformation, including ovarian Sertoli-Leydig cell tumor, nontoxic multinodular goiter, multilocular cystic nephroma and pleuropulmonary blastoma, which can occur in children and young adults. This may be due to reduced Dcr-...
متن کاملDICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
BACKGROUND Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB). AIM To investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer. METHODS AND RESULTS The authors sequenced DICER1 in constitutional DNA from 823 unrelated patients with a variety of tumours and in 781 cancer cell lines. Cons...
متن کاملThe Oncogenic Roles of DICER1 RNase IIIb Domain Mutations in Ovarian Sertoli-Leydig Cell Tumors12
DICER1, an endoribonuclease required for microRNA (miRNA) biogenesis, is essential for embryogenesis and the development of many organs including ovaries. We have recently identified somatic hotspot mutations in RNase IIIb domain of DICER1 in half of ovarian Sertoli-Leydig cell tumors, a rare class of sex-cord stromal cell tumors in young women. These hotspot mutations lost IIIb cleavage activi...
متن کاملThe DICER1 familial cancer syndrome: clinical and molecular update
DICER1 is an RNase endonuclease important for production of microRNAs, which regulate multiple proteincoding genes involved in growth and development. It has been linked to several tumors including pleuropulmonary blastoma (PPB), cystic nephroma, ovarian Sertoli-Leydig cell tumors and thyroid neoplasia. Most of the manifestations of DICER1 mutations occur in young children, adolescents and youn...
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