title: Gynecologic Manifestations of the DICER1 Syndrome.
abstract: Patients with germline DICER1 mutations are at increased risk of developing a wide range of tumors, most of which are relatively rare in the general population. In the gynecologic tract, these include ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, and embryonal rhabdomyosarcoma of the cervix. In some cases, these are the sentinel neoplasms. DICER1-associated tumors may have distinctive morphologic appearances that may prompt the pathologist to consider an underlying tumor predisposition syndrome and therefore consideration of genetic evaluation in the patient and her family.
authors.affiliation: Department of Histopathology, King Edward Memorial Hospital, School for Women's and Infants' Health, University of Western Australia, Subiaco, Perth, Western Australia 6008, Australia. Electronic address: colin.stewart@health.wa.gov.au.
authors.forename: Colin J R
authors.initials: CJ
authors.lastname: Stewart
authors.affiliation: Department of Anatomical Pathology, Sidra Medical and Research Center, PO Box 26999, Doha, Qatar.
authors.forename: Adrian
authors.initials: A
authors.lastname: Charles
authors.affiliation: Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Oncology, McGill University, Montreal, Quebec, Canada; Department of Medical Genetics, Jewish General Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Cancer Genetics Laboratory, Lady Davis Institute, Montreal, Quebec H3T 1E2, Canada.
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
mesh_terms: D053487:DEAD-box RNA Helicases / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D005833:Genital Neoplasms, Female / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D018095:Germ-Line Mutation; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D011379:Prognosis; D018233:Rhabdomyosarcoma, Embryonal / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D043244:Ribonuclease III / Q000235:genetics*; D018310:Sertoli-Leydig Cell Tumor / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D018312:Sex Cord-Gonadal Stromal Tumors / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002583:Uterine Cervical Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
chemical_list: C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
keywords: Cervix; DICER1; Mutation; Ovary; Rhabdomyosarcoma; Sertoli-Leydig cell tumor; Syndrome