|Table of Contents|

Endometrial carcinoma associated with Lynch syndrome:A case report and literature review

Journal Of Modern Oncology[ISSN:1672-4992/CN:61-1415/R]

Issue:
2023 20
Page:
3831-3835
Research Field:
Publishing date:

Info

Title:
Endometrial carcinoma associated with Lynch syndrome:A case report and literature review
Author(s):
LU Huijuan1; LIU Jian1; QIU Yuqi2; CHEN Yong2; WANG Sufei2; LU Jinzhi3; LI Shuang4; YI Cunjian1
1Department of Obstetrics and Gynecology,the First Affiliated Hospital of Yangtze University,Hubei Jingzhou 434000,China；2Department of Obstetrics and Gynecology;3Department of Laboratory Medicine;4Department of Gynecology Oncology,the First People's Hospital of Jingzhou,Hubei Jingzhou 434000,China.
Keywords:
Lynch syndrome; endometrial cancer; mismatch repair gene
PACS:
R737.33
DOI:
10.3969/j.issn.1672-4992.2023.20.021
Abstract:
Objective:To improve gynecologists' understanding and treatment of Lynch syndrome (LS) related endometrial cancer (EC) by combining guidelines.Methods:In this paper,we reviewed the clinical diagnosis and treatment data of a patient with LS related EC,combined with the the guidelines for screening and management,and related literature of LS,and summarized the molecular pathogenesis,clinicopathological features,screening and management protocols of LS related EC.Result:The occurrence and development mechanisms of LS related EC are complex and varied,and the diagnosis and treatment plans vary from person to person.Conclusion:Through the management measures of early screening,early prevention and early diagnosis and treatment,it is expected to reduce the incidence and mortality of LS related EC.

References:

［1］ 郭艳平,杨春宝,李扬,等.林奇综合征一例并文献复习［J］.中国医学科学院学报,2018,40(03):432-435. GUO YP,YANG CB,LI Y,et al.A case of Lynch syndrome and literature review ［J］.Journal of Chinese Academy of Medical Sciences,2018,40(03):432-435.
［2］ PAIVI P,MINNA N,JUKKA P,et al.Lynch syndrome genetics and clinical implications ［J］.Gastroenterology,2023,164(5):783-799.
［3］ 郭超,刘爱军.林奇综合征相关性子宫内膜癌病理学研究进展［J］.解放军医学院学报,2015,36(06):640-643. GUO C,LIU AJ.Progress in the pathology of endometrial cancer associated with Lynch syndrome ［J］.Journal of Chinese People's Liberation Army Medical College,2015,36(06):640-643.
［4］ LYNCH HT,SNYDER CL,SHAW TG,et al.Milestones of Lynch syndrome:1895-2015 ［J］.Nat Rev Cancer,2015,15(3):181-194.
［5］ LEAH HB,MIKI H,HAJIME U,et al.Familial burden and other clinical factors associated with various types of cancer in individuals with Lynch syndrome ［J］.Gastroenterology,2021,161(1):143-150.
［6］ MOREIRA L,BALAGUER F,LINDOR N,et al.Identification of Lynch syndrome among patients with colorectal cancer ［J］.Jama,2012,308(15):1555-1565.
［7］ 张群,王玲,韩丽英,等.林奇综合征相关子宫内膜癌研究进展［J］.国际妇产科学杂志,2019,46(05):564-567. ZHANG Q,WANG L,HAN LY,et al.Research progress in endometrial cancer associated with Lynch syndrome ［J］.International Journal of Obstetrics and Gynecology,2019,46(05):564-567.
［8］陈曦,杨永秀.微卫星不稳定型子宫内膜癌的临床特点和治疗 ［J］.国际 生殖健康/计划生育杂志,2023,42(01):77-82. CHEN X,YANG YX.Clinical characteristics and treatment of microsatellite instability type of endometrial cancer ［J］.J Int Reprod Health/Fam Plan,2023,42(01):77-82.
［9］ AMANDA BA,SOFIE VN,INGE B,et al.Lynch syndrome,molecular mechanisms and variant classification ［J］.Br J Cancer,2023,128(5):726-734.
［10］ 肖婧,吴颖.子宫内膜癌患者微卫星不稳定性及其临床意义研究 ［J］.中国全科医学,2022,25(3):275-279,284. XIAO J,WU Y.Microsatellite instability and its clinical significance in endometrial carcinoma ［J］.Chinese General Practice,2022,25(3):275-279,284.
［11］ 刘晓,李玉兰,马杏,等.林奇综合征相关子宫内膜癌研究进展 ［J］.协和医学杂志,2023,14(01):190-195. LIU X,LI YL,MA X,et al.Advances in the study of Lynch Syndrome associated endometrial cancer ［J］.Medical Journal of Peking Union Medical College Hospital,2023,14(01):190-195.
［12］DORK T,HILLEMANNS P,TEMPFER C,et al.Genetic susceptibility to endometrial cancer:risk factors and clinical management ［J］.Cancers (Basel),2020,12(09):2407.
［13］ CUI MH,ZHANG XW,YU T,et al.PMS2 germline mutation c.1577delA (Asp526Alafs*69)-induced Lynch syndrome-associated endometrial cancer:A case report ［J］.Medicine (Baltimore),2019,98(51):e18279.
［14］ KAHN RM,SGORDHANDA S,MADDY B,et al.Universal endometrial cancer tumor typing:How much has immunohistochemistry,microsatellite instability,and MLH1 methylation improved the diagnosis of Lynch syndrome across the population ［J］.Cancer,2019,125(18):3172-3183.
［15］ZHAO S,CHEN L,ZANG Y,et al．Endometrial cancer in Lynch syndrome ［J］．Int J Cancer,2022,150:7-17．
［16］ GIARDIELLO FM,ALLEN JI,AXILBUND JE,et al.Guidelines on genetic evaluation and management of Lynch syndrome:a consensus statement by the US multi-society task force on colorectal cancer ［J］.Dis Colon Rectum,2014,57(8):1025-1048.
［17］ 于跃,原继荣.Lynch综合征相关子宫内膜癌的新进展 ［J］.中国优生与遗传杂志,2016,24(10):134-136. YU Y,YUAN JR.New progress in endometrial cancer associated with Lynch syndrome ［J］.Chinese Journal of Eugenics and Genetics,2016,24(10):134-136.
［18］ ZHAO SS,CHEN LL,ZHANG YQ,et al.Endometrial cancer in Lynch syndrome ［J］.Int J Cancer,2022,150(1):7-17.
［19］ KIT C,SAMIR G,RICHARD CB.Review article:Lynch syndrome-a mechanistic and clinical management update ［J］.Aliment Pharmacol Ther,2022,55(8):960-977.
［20］ BILLER LH,SYNGAL S,YURGELUN MB,et al.Recent advances in Lynch syndrome ［J］.Fam Cancer,2019,18(2):211-219.
［21］ PASTOR DM，SCHLOM J.Immunology of Lynch syndrome ［J］．Curr Oncol Rep,2021,23(08):96.
［22］ FLORINE A,EGGINK FA,VAN GOOL IC,et al.Immunological profiling of molecularlyclassified high-risk endometrial cancers identifies POLE-mutant and microsatellite unstable carcinomas as candidates for checkpoint inhibition ［J］.Oncoimmunology,2017,6(2):e1264565.
［23］ RABBAN JT，CALKINS SM，KARNEZIS AN，et al.Association of tumor morphology with mismatch-repair protein status in older endometrial cancer patients：implications for universal versus selective screening strategies for Lynch syndrome ［J］.Am J Surg Pathol，2014，38（6）：793-800.
［24］ 刘大江,杜文静,杨永秀.Lynch综合征相关子宫内膜癌新进展 ［J］.国际妇产科学杂志,2016,43(01):67-69. LIU DJ,DU WJ,YANG YX.New advances in endometrial cancer associated with Lynch syndrome ［J］.International Journal of Obstetrics and Gynecology,2016,43(01):67-69.
［25］ HALF EE,BRESALIER RS.Clinical management of hereditary colorectal cancer syndromes ［J］.Curr Opin Gastroenterol,2004,20(1):32-42.
［26］ HAGEN CE,LEFFERTS J,HORNICK JL,et al."Null pattern" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation ［J］.Am J Surg Pathol,2011,35(12):1902-1905.
［27］RAYMOND VM,MORRIS AM,HAFEZ KS,et al.MLH1 promotor hypermethylation does not rule out a diagnosis of Lynch syndrome:a case report ［J］.Fam Cancer,2015,14(1):77-80.
［28］ RAHNER N,FRIEDRICHS N,STEINKE V,et al.Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome ［J］.J Pathol,2008,214(1):10-16.
［29］ YOKOYAMA T,FRIEDRICHS N,STEINKE V,et al.Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation:a case report and literature review ［J］.BMC Cancer,2018,18(1):576.
［30］ SEIDEN MV,PATEL D,O'NEILL MJ,et al.Case records of the Massachusetts General Hospital.Case 13-2007.A 46-year-old woman with gynecologic and intestinal cancers ［J］.N Engl J Med,2007,356(17):1760-1769.
［31］LEE HJ,LEE MH,CHOI MC,et al.Case report of menopausal woman diagnosed with endometrial cancer after colon cancer with germline mutation in MSH6 in Korea ［J］.J Menopausal Med,2017,23(1):69-73.
［32］ CHAPEL DB,LENGYEL E,RITTERHOUSE LL,et al.Interpretation of mismatch repair protein immunohistochemistry in endometrial carcinoma should consider both Lynch syndrome screening and immunotherapy susceptibility:An illustrative case report ［J］.Int J Gynecol Pathol,2020,39(3):233-237.
［33］ NAKAMURA K,NAKAYAMA K,MINAMOTO T,et al.Lynch syndrome-related clear cell carcinoma of the cervix:a case report ［J］.Int J Mol Sci,2018,19(4):979.

Memo

Memo:
湖北省卫计委医药院校专项（重点项目）（编号：WJ2018H175）
Last Update: 1900-01-01