title: [Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review].
abstract: Lynch syndrome is an autosomal dominant genetic disease characterized by the early onset of colon cancer, endometrial cancer and other tumors caused by a genetic mutation within DNA mismatch repair (MMR) genes. A small subgroup (approximately 3%-5%) of endometrial cancer and colorectal cancer is related to Lynch syndrome. Identification of these patients in clinical practice will be of great benefit to the relatives and patients themselves. We reported two cases, and reviewed the literature and clinical diagnostic guideline. MMR protein was lost in the tumors. Meanwhile the two cases had different clinicopathological characteristics. Together with the literature, our findings may suggest that the MMR protein expression, associated molecular alterations and clinicopathological features and biological behavior of endometrial cancer and colorectal cancer related to Lynch syndrome are different. Thus the algorithm for detection the patients at highest risk is different. To detect the MMR loss by immunohistochemistry is a practicalscreening method.
authors.affiliation: Department of Pathology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Jing-wen
authors.initials: JW
authors.lastname: Si
authors.affiliation: Department of Pathology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Pathology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Xiao-jun
authors.initials: XJ
authors.lastname: Ba
authors.affiliation: Department of Pathology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Department of Pathology, Peking University First Hospital, Beijing 100034, China; Department of Pathology, Affiliated Tumour Hospital, Xinjiang Medical University, Urumqi 830011, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Dong
authors.affiliation: Department of Pathology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Ji-xin
authors.initials: JX
authors.lastname: Zhang
authors.affiliation: Department of Pathology, Affiliated Tumour Hospital, Xinjiang Medical University, Urumqi 830011, China.
authors.forename: Wen-ting
authors.initials: WT
authors.lastname: Li
authors.affiliation: Department of Pathology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Li
mesh_terms: D003110:Colonic Neoplasms; D015179:Colorectal Neoplasms; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics; D053843:DNA Mismatch Repair; D045643:DNA Repair Enzymes / Q000235:genetics / Q000378:metabolism*; D016889:Endometrial Neoplasms; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D009154:Mutation
chemical_list: D045643:DNA Repair Enzymes