Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports

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• 作者：Emily E.K. Meserve ; MD ; MPH ; Marisa R. Nucci ; MD ; ^{mnucci@partners.org" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Gastric-type endocervical adenocarcinoma ; Minimal deviation adenocarcinoma ; Adenoma malignum ; Sex cord tumor with annular tubules ; Sertoli cell tumor ; STK11/LKB1 ; Tumor suppressor
• 刊名：Surgical Pathology Clinics
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：9
• 期：2
• 页码：243-268
• 全文大小：17448 K

文摘

Peutz-Jeghers syndrome (PJS), in most cases, is attributed to mutation in STK11/LKB1 and is clinically characterized by gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and predisposition to certain neoplasms. There are currently no recommended gynecologic screening or clinical surveillance guidelines beyond those recommended for the general population; however, cervical cytology samples must be examined with a high level of suspicion for cervical adenocarcinoma. It is considered prudent to note the established association with PJS and recommend referral for genetic counseling. Complete surgical excision after a diagnosis of atypical lobular endocervical glandular hyperplasia is recommended.