Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma

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• 作者：Bojana Djordjevic ; MD^a ; ^{bdjordjevic@toh.on.ca" class="auth_mail" title="E-mail the corresponding author} ; ^{bojanadjordjevicmd@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Russell R. Broaddus ; MD ; PhD^b
• 关键词：Lynch syndrome ; Endometrial cancer ; Molecular diagnostic testing
• 刊名：Surgical Pathology Clinics
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：9
• 期：2
• 页码：289-299
• 全文大小：3035 K

文摘

This article reviews the main tissue testing modalities for Lynch Syndrome in the pathology laboratory, such as immunohistochemistry and PCR based analyses, and discusses their routine application, interpretation pitfalls, and troubleshooting of common technical performance issues. Discrepancies between laboratory and genetic testing may arise, and are examined in the context of the complexity of molecular abnormalities associated with Lynch Syndrome. The merits of targeted versus universal screening in a changing healthcare climate are addressed. In the absence of comprehensive screening programs, specific tumor topography and histological features that may prompt pathologist-initiated molecular tumor testing are outlined.