title: Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma.
abstract: 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.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Ottawa, The Ottawa Hospital, Eastern Ontario Regional Laboratory, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada. Electronic address: bdjordjevic@toh.on.ca.
authors.forename: Bojana
authors.initials: B
authors.lastname: Djordjevic
authors.affiliation: Department of Pathology, Unit 85, University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA.
authors.forename: Russell R
authors.initials: RR
authors.lastname: Broaddus
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis; D053843:DNA Mismatch Repair; D055088:Early Detection of Cancer / Q000379:methods; D016889:Endometrial Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D055847:Lynch Syndrome II / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D053842:Microsatellite Instability; D000070957:MutL Protein Homolog 1 / Q000235:genetics; D009154:Mutation
chemical_list: D014408:Biomarkers, Tumor; C501486:MLH1 protein, human; D000070957:MutL Protein Homolog 1
keywords: Endometrial cancer; Lynch syndrome; Molecular diagnostic testing