Gynecologic Manifestations of the DICER1 Syndrome

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• 作者：Colin J.R. Stewart ; FRCPA^a ; ^{colin.stewart@health.wa.gov.au" class="auth_mail" title="E-mail the corresponding author} ; Adrian Charles ; FRCPA^b ; William D. Foulkes ; PhD^c ; ^d ; ^e ; ^f
• 关键词：DICER1 ; Syndrome ; Mutation ; Sertoli-Leydig cell tumor ; Ovary ; Cervix ; Rhabdomyosarcoma
• 刊名：Surgical Pathology Clinics
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：9
• 期：2
• 页码：227-241
• 全文大小：12504 K

文摘

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.