open access: Recurrent Somatic DICER1 Mutations in Nonepithelial Ovarian Cancers — NEJM (germ cell, sex cord-stromal, leydig, granulosa... Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Monday, January 09, 2012

open access: Recurrent Somatic DICER1 Mutations in Nonepithelial Ovarian Cancers — NEJM (germ cell, sex cord-stromal, leydig, granulosa...



"Sex cord–stromal tumors and germ-cell tumors account for less than 10% of ovarian cancers.1 Unlike epithelial ovarian cancers, both sex cord–stromal tumors and germ-cell tumors can also occur in the testicle; testicular germ-cell tumors are the most common cancer in boys and men of European descent between the ages of 15 and 34 years.2,3 Other than a pathognomonic somatic mutation in FOXL2 in adult granulosa-cell tumors,4-6 little is known about the pathogenesis of ovarian sex cord–stromal tumors and germ-cell tumors. Recently, germline mutations in the microRNA processing gene DICER1 have been reported in probands with pleuropulmonary blastoma or the related familial tumor dysplasia syndrome, known as pleuropulmonary blastoma–family tumor and dysplasia syndrome (Online Mendelian Inheritance in Man [OMIM] number, 601200), which includes cystic nephroma, ovarian sex cord–stromal tumor (especially Sertoli–Leydig cell tumor), and multinodular goiter.7......."

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