Sertoli-Leydig cell tumor in two siblings with DICER1 syndrome
نویسندگان
چکیده
منابع مشابه
ORIGINAL CONTRIBUTION DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors
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 Kr...
متن کاملDICER1 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 کاملRecurrent ovarian Sertoli–Leydig cell tumor in a child with Peutz–Jeghers syndrome
We present a female child with Peutz-Jeghers syndrome (PJS) with a recurrent ovarian Sertoli-Leydig cell tumor (SLCT). SLCTs are relatively rare sex cord neoplasms that can occur in PJS. The patient was an African-American female who first presented at the age of 3 years with precocious puberty, and then at the age of 17 years with abdominal pain and irregular menses. In each case, she had rese...
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...
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ژورنال
عنوان ژورنال: Medicine
سال: 2020
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000020806