«Previous Article|Table of Contents|Next Article»

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

Issue:

2024 08

Page:

1522-1526

Research Field:

Publishing date:

Info

Title:

Research progress of endometrial carcinoma associated with Lynch syndrome

Author(s):

GU Ningning; XU Tianmin; QI Yue; WANG Xin; WANG Xiaojun; ZHU He

Department of Obstetrics and Gynecology,Second Hospital of Jilin University,Jilin Changchun 130000,China.

Keywords:

Lynch syndrome; endometrial cancer; diagnosis; screening; prevention

PACS:

R737.33

DOI:

10.3969/j.issn.1672-4992.2024.08.027

Abstract:

Lynch syndrome(LS),also known as hereditary nonpolyposis colorectal cancer(HNPCC),is an autosomal dominant hereditary disease caused by DNA mismatch repair(MMR) gene mutation.It is characterized by familial aggregation,early onset,mostly in the right colon,with synchronous or metachronous extraintestinal malignant tumors.Colorectal cancer(CRC) and endometrial cancer(EC) are the most common LS-related tumors.Other tumors include small bowel cancer,gastric cancer,cholangiocarcinoma,ovarian cancer,renal pelvis/ureteral cancer,sebaceous gland tumor and so on.EC is the most common LS-related extraintestinal tumor,with a lifetime risk of 40% to 60%.Studies have shown that female mismatch repair gene carriers have a lifetime risk of developing EC that outweighs the risk of CRC.At present,the domestic research on endometrial carcinoma related to Lynch syndrome(LS-EC) is still in its infancy,and not enough attention has been paid to the screening and diagnosis of LS-EC.This article reviews the pathogenesis,screening,diagnosis,clinicopathological features,prevention and treatment of LS-EC.

References:

£Û1£Ý SIEGEL RL,MILLER KD,FUCHS HE,et al.Cancer statistics,2021£ÛJ£Ý.CA:A Cancer Journal for Clinicians,2021,71(1):7-33.
£Û2£Ý FENG RH,WEI LZ,WANG HL.Research progress on risk factors related to endometrial carcinoma£ÛJ£Ý.Medical Review,2020,26(08):1537-1541.
£Û3£Ý LU KH,DANIELS M.Endometrial and ovarian cancer in women with Lynch syndrome:update in screening and prevention£ÛJ£Ý.Familial Cancer,2013,12(2):273-277.
£Û4£Ý ZHAO S,CHEN L,ZANG Y,et al.Endometrial cancer in Lynch syndrome£ÛJ£Ý.Int J Cancer£¬2022£¬150(1):7-17.
£Û5£Ý LIGTENBERG MJL,KUIPER RP,GEURTS VAN KESSEL A,et al.EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients£ÛJ£Ý.Familial Cancer,2013,12(2):169-174.
£Û6£Ý CHAO XP,LI L,WU M,et al.Comparison of different screening methods for Lynch syndrome in patients with endometrial carcinoma£ÛJ£Ý.Chinese Medical Journal,2019,99(15):1178-1183.
£Û7£Ý RUSTGI AK.The genetics of hereditary colon cancer£ÛJ£Ý.Genes & Development,2007,21(20):2525-2538.
£Û8£Ý LIN JG,CHEN P,KANG YP,et al.Significance of MMR deletion in patients with microsatellite instability in sporadic colorectal cancer and Lynch syndrome£ÛJ£Ý.Chinese and Foreign Medical Research,2020,18(36):8-11.
£Û9£Ý SINGH SRKE.Lynch syndrome and endometrial cancer£ÛJ£Ý.Southern Medical Journal,2007,110(4):265-269.
£Û10£Ý MA BB,WANG H.Microsatellite instability and its research progress in endometrial carcinoma£ÛJ£Ý.Cancer Progression,2019,17(12):1385-1388.
£Û11£Ý BEDEIR A,KRASINSKAS AM.Molecular diagnostics of colorectal cancer£ÛJ£Ý.Archives of Pathology & Laboratory Medicine,2011,135(5):578-587.
£Û12£Ý Ó÷´ä.MMRµ°°×ÔÚ×Ó¹¬ÄÚĤ°©Öеıí´ïÓëLynch×ÛºÏÕ÷µÄÕï¶Ï£ÛD£Ý.ʯ¼Òׯ£ººÓ±±Ò½¿Æ´óѧ,2019. YU C.Expression of MMR protein in endometrial carcinoma and diagnosis of Lynch syndrome£ÛD£Ý.Shijiazhuang:Hebei Medical University,2019.
£Û13£Ý DE FREITAS D,AGUIAR FN,ANTON C,et al.Clinicopathological characteristics of endometrial carcinomas according to DNA mismatch repair protein status£ÛJ£Ý.Heliyon£¬2023£¬9(6):e17495.
£Û14£Ý GENTRY-MAHARAJ A,KARPINSKYJ C.Current and future approaches to screening for endometrial cancer£ÛJ£Ý.Best Practice & Research£ºClinical Obstetrics & Gynaecology,2020,65:79-97.
£Û15£Ý BARROW E,HILL J,EVANS DG.Cancer risk in Lynch syndrome£ÛJ£Ý.Familial Cancer,2013,12(2):229-240.
£Û16£Ý CHAO XP.Research progress of Lynch syndrome associated with endometrial carcinoma£ÛJ£Ý.Progress in Modern Obstetrics and Gynecology,2019,28(3):225-229.
£Û17£Ý MAS-MOYA J,DUDLEY B,BRAND RE,et al.Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-Like syndrome versus patients with Lynch syndrome£ÛJ£Ý.Human Pathology,2015,46(11):1616-1625.
£Û18£Ý SPINOSA D,ACOSTA T,WONG J,et al.Universal screening for Lynch syndrome in uterine cancer patients:A quality improvement initiative£ÛJ£Ý.Gynecologic Oncology,2021,160(1):169-174.
£Û19£Ý GAO XH,ZHANG W,LIU LJ,et al.Screening strategy and comprehensive application of Lynch syndrome£ÛJ£Ý.Chinese Journal of Gastrointestinal Surgery,2019,22(7):684-688.
£Û20£Ý PINO MS,CHUNG DC.Application of molecular diagnostics for the detection of Lynch syndrome£ÛJ£Ý.Expert Review of Molecular Diagnostics,2010,10(5):651-665.
£Û21£Ý LI DC,JIANG L.Progress in clinical diagnosis and treatment of Lynch syndrome£ÛJ£Ý.Chinese Electronic Journal of Colorectal Diseases,2014,3(04):280-282.
£Û22£Ý LANCASTER JM,POWELL CB,KAUFF ND,et al.Society of Gynecologic Oncologists education committee statement on risk assessment for inherited gynecologic cancer predispositions£ÛJ£Ý.Gynecologic Oncology,2007,107(2):159-162.
£Û23£Ý KASTRINOS F,UNO H,UKAEGBU C,et al.Development and validation of the PREMM5 model for comprehensive risk assessment of Lynch syndrome£ÛJ£Ý.Journal of Clinical Oncology,2017,35(19):2165-2172.
£Û24£Ý GUPTA S,PROVENZALE D,LLOR X,et al.Genetic/familial high-risk assessment:colorectal,version 2.2019 featured updates to the NCCN guidelines£ÛJ£Ý.Journal of The National Comprehensive Cancer Network,2019,17(9):1033-1041.
£Û25£Ý CHAO AS,CHAO A,LAI CH,et al.Comparison of immediate germline sequencing and multi-step screening for Lynch syndrome detection in high-risk endometrial and colorectal cancer patients£ÛJ/OL£Ý.J Gynecol Oncol£Û2023-09-05£Ý.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10792205/.DOI:10.3802/jgo.2024.35.e5.
£Û26£Ý KARPEL HC,SMITH M,BRODSKY A,et al.Improving genetic testing following abnormal mismatch repair immunohistochemistry results in endometrial cancer£ÛJ£Ý.Gynecol Oncol,2023,175:20-24.
£Û27£Ý METCALF AM,SPURDLE AB.Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status:a literature review£ÛJ£Ý.Familial Cancer,2014,13(1):1-12.
£Û28£Ý MODICA I,SOSLOW RA,BLACK D,et al.Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma£ÛJ£Ý.American Journal of Surgical Pathology,2007,31(5):744-751.
£Û29£Ý GARG K,SOSLOW RA.Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma£ÛJ£Ý.Journal of Clinical Pathology,2009,62(8):679-684.
£Û30£Ý WANG C,KUANG W,ZENG J,et al.A retrospective study of consistency between immunohistochemistry and polymerase chain reaction of microsatellite instability in endometrial cancer£ÛJ£Ý.PeerJ,2023,11:e15920.
£Û31£Ý WANG A,MCCRACKEN J,LI Y,et al.The practice of universal screening for Lynch syndrome in newly diagnosed endometrial carcinoma£ÛJ£Ý.Health Science Reports,2018,1(7):e43.
£Û32£Ý RESNICK KE,HAMPEL H,FISHEL R,et al.Current and emerging trends in Lynch syndrome identification in women with endometrial cancer£ÛJ£Ý.Gynecol Oncol,2009,114(1):128-134.
£Û33£Ý GUO C,LIU AJ.Advances in pathological study of endometrial carcinoma associated with Lynch syndrome£ÛJ£Ý.Journal of Medical College of PLA,2015,36(06):640-643.
£Û34£Ý HUANG HX.Changes of mismatch repair protein expression in clinicopathological features of endometrial carcinoma£ÛJ£Ý.Journal of Clinical Rational Drug Use,2019,12(35):163-164.
£Û35£Ý TENG F,MA XG,XUE FX.Research progress of endometrial carcinoma associated with Lynch syndrome£ÛJ£Ý.Chinese Journal of Physicians,2015,17(08):1131-1134.
£Û36£Ý WANG Y,XUE F,BROADDUS RR,et al.Clinicopathological features in endometrial carcinoma associated with Lynch syndrome in China£ÛJ£Ý.International Journal of Gynecological Cancer,2009,19(4):651-656.
£Û37£Ý UNDERKOFLER KA,RING KL.Updates in gynecologic care for individuals with lynch syndrome£ÛJ£Ý.Front Oncol,2023,13:1127683.
£Û38£Ý MEYER LA,BROADDUS RR,LU KH.Endometrial cancer and Lynch syndrome:Clinical and pathologic considerations£ÛJ£Ý.Cancer Control,2009,16(1):14-22.
£Û39£Ý DUE¦rAS N,NAVARRO M,TEUL¦I ¦D,et al.Assessing effectiveness of colonic and gynecological risk reducing surgery in Lynch syndrome individuals£ÛJ£Ý.Cancers,2020,12(11):3419.
£Û40£Ý SCHMELER KM,LYNCH HT,CHEN LM,et al.Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome£ÛJ£Ý.N Engl J Med,2006,354(3):261-269.
£Û41£Ý SILINSKAITE U,GAVELIENE E,STULPINAS R,et al.A novel mutation of MSH2 gene in a patient with Lynch syndrome presenting with thirteen metachronous malignancies£ÛJ£Ý.J Clin Med,2023,12(17):5502.
£Û42£Ý BILLER LH,SYNGAL S,YURGELUN MB.Recent advances in Lynch syndrome£ÛJ£Ý.Familial Cancer,2019,18(2):211-219.
£Û43£Ý AIT OUAKRIM D,DASHTI SG,CHAU R,et al.Aspirin,ibuprofen,and the risk of colorectal cancer in Lynch syndrome£ÛJ£Ý.Journal of the National Cancer Institute,2015,107:djv170.
£Û44£Ý LU KH,LOOSE DS,YATES MS,et al.Prospective multicenter randomized intermediate biomarker study of oral contraceptive versus depo-provera for prevention of endometrial cancer in women with Lynch syndrome£ÛJ£Ý.Cancer Prevention Research,2013,6(8):774-781.
£Û45£Ý BOLAND CR.Recent discoveries in the molecular genetics of Lynch syndrome£ÛJ£Ý.Familial Cancer,2016,15(3):395-403.
£Û46£Ý STAFF S,AALTONEN M,HUHTALA H,et al.Endometrial cancer risk factors among Lynch syndrome women:a retrospective cohort study£ÛJ£Ý.British Journal of Cancer,2016,115(3):375-381.
£Û47£Ý LE DT,DURHAM JN,SMITH KN,et al.Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade£ÛJ£Ý.Science,2017,357(6349):409-413.
£Û48£Ý CARR C,SON J,YAO M,et al.Clinicopathologic characteristics and outcomes of endometrial cancer patients with mismatch repair deficiency in the era of universal Lynch syndrome screening£ÛJ£Ý.Gynecologic Oncology,2020,159(3):712-720.

Memo

Memo:

-

Common functions

Last Update: 1900-01-01