본문 바로가기
KERD
논문KCI 등재

Mismatch repair deficiency and clinicopathological characteristics in endometrial carcinoma: a systematic review and meta-analysis

1

조회

0

다운로드

0

인용

0

참고문헌

키워드

주제분류병리학

초록

Background: Loss of mismatch repair (MMR) occurs frequently in endometrial carcinoma (EC) and is an important prognostic marker. However, the frequency of MMR deficiency (D-MMR) in EC remains inconclusive. This systematic review and meta-analysis addressed this inconsistency and evaluated related clinicopathology. Methods: Electronic databases were searched for articles: PubMed, Science Direct, Web of Science, EMBASE, and the Wiley Online Library. Data were extracted from 25 EC studies of D-MMR to generate a clinical dataset of 7,459 patients. A random-effects model produced pooled estimates of D-MMR EC frequency with 95% confidence interval (CI) for meta-analysis. Results: The overall pooled proportion of D-MMR was 24.477% (95% CI, 21.022 to 28.106) in EC. The Lynch syndrome subgroup had 22.907% pooled D-MMR (95% CI, 14.852 to 32.116). D-MMR was highest in type I EC (25.810) (95% CI, 22.503 to 29.261) compared to type II (13.736) (95% CI, 8.392 to 20.144). Pooled D-MMR was highest at EC stage and grades I–II (79.430% and 65.718%, respectively) and lowest in stages III–IV and grade III (20.168% and 21.529%). The pooled odd ratios comparing D-MMR to proficient MMR favored low-stage EC disease (1.565; 0.894 to 2.740), lymphovascular invasion (1.765; 1.293 to 2.409), and myometrial invasion > 50% (1.271; 0.871 to 1.853). Conclusions: Almost one-quarter of EC patients present with D-MMR tumors. The majority has less aggressive endometrioid histology. D-MMR presents at lower tumor stages compared to MMR-proficient cases in EC. However other metastatic parameters are comparatively higher in the D-MMR disease setting.

Abstract

Background: Loss of mismatch repair (MMR) occurs frequently in endometrial carcinoma (EC) and is an important prognostic marker. However, the frequency of MMR deficiency (D-MMR) in EC remains inconclusive. This systematic review and meta-analysis addressed this inconsistency and evaluated related clinicopathology. Methods: Electronic databases were searched for articles: PubMed, Science Direct, Web of Science, EMBASE, and the Wiley Online Library. Data were extracted from 25 EC studies of D-MMR to generate a clinical dataset of 7,459 patients. A random-effects model produced pooled estimates of D-MMR EC frequency with 95% confidence interval (CI) for meta-analysis. Results: The overall pooled proportion of D-MMR was 24.477% (95% CI, 21.022 to 28.106) in EC. The Lynch syndrome subgroup had 22.907% pooled D-MMR (95% CI, 14.852 to 32.116). D-MMR was highest in type I EC (25.810) (95% CI, 22.503 to 29.261) compared to type II (13.736) (95% CI, 8.392 to 20.144). Pooled D-MMR was highest at EC stage and grades I–II (79.430% and 65.718%, respectively) and lowest in stages III–IV and grade III (20.168% and 21.529%). The pooled odd ratios comparing D-MMR to proficient MMR favored low-stage EC disease (1.565; 0.894 to 2.740), lymphovascular invasion (1.765; 1.293 to 2.409), and myometrial invasion > 50% (1.271; 0.871 to 1.853). Conclusions: Almost one-quarter of EC patients present with D-MMR tumors. The majority has less aggressive endometrioid histology. D-MMR presents at lower tumor stages compared to MMR-proficient cases in EC. However other metastatic parameters are comparatively higher in the D-MMR disease setting.

참고문헌 (47)

  1. Siegel RL, "Cancer Statistics, 2017", CA Cancer J Clin, 67, pp.7~30 (2017)
  2. Cancer Genome Atlas Research Network;Kandoth C, "Integrated genomic characterization of endometrial carcinoma", Nature, 497, pp.67~73 (2013)
  3. Church DN, "Prognostic significance of POLE proofreading mutations in endometrial cancer", J Natl Cancer Inst, 107, pp.402~ (2015)
  4. Bell DW, "Molecular genetics of endometrial carcinoma", Annu Rev Pathol, 14, pp.339~367 (2019)
  5. Nojadeh JN, "Microsatellite instability in colorectal cancer", EXCLI J, 17, pp.159~168 (2018)
  6. Buchanan DD, "Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60years optimizes triage for population-level germline mismatch repair gene mutation testing", J Clin Oncol, 32, pp.90~100 (2014)
  7. Stelloo E, "Improved risk assessment by integrating molecular and clinicopathological factors in early-stage endometrial cancer-combined analysis of the PORTEC cohorts", Clin Cancer Res, 22, pp.4215~4224 (2016)
  8. An HJ, "Microsatellite instability in endometrioid type endometrial adenocarcinoma is associated with poor prognostic indicators", Am J Surg Pathol, 31, pp.846~853 (2007)
  9. Arabi H, "Impact of microsatellite instability(MSI)on survival in high grade endometrial carcinoma", Gynecol Oncol, 113, pp.153~158 (2009)
  10. Auguste A, "Refinement of high-risk endometrial cancer classification using DNA damage response biomarkers : a TransPORTEC initiative", Mod Pathol, 31, pp.1851~1861 (2018)
  11. Basil JB, "Clinical significance of microsatellite instability in endometrial carcinoma", Cancer, 89, pp.1758~1764 (2000)
  12. Bosse T, "Molecular classification of grade 3 endometrioid endometrial cancers identifies distinct prognostic subgroups", Am J Surg Pathol, 42, pp.561~568 (2018)
  13. Broaddus RR, "Pathologic features of endometrial carcinoma associated with HNPCC : a comparison with sporadic endometrial carcinoma", Cancer, 106, pp.87~94 (2006)
  14. Cohn DE, "Genotypic and phenotypic progression in endometrial tumorigenesis : determining when defects in DNA mismatch repair and KRAS2 occur", Genes Chromosomes Cancer, 32, pp.295~301 (2001)
  15. de Jong RA, "Loss of HLA class I and mismatch repair protein expression in sporadic endometrioid endometrial carcinomas", Int J Cancer, 131, pp.1828~1836 (2012)
  16. Hirai Y, "Molecular epidemiological and mutational analysis of DNA mismatch repair(MMR)genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancer", Cancer Sci, 99, pp.1715~1719 (2008)
  17. Huang HN, "Ovarian and endometrial endometrioid adenocarcinomas have distinct profiles of microsatellite instability, PTEN expression, and ARID1A expression", Histopathology, 66, pp.517~528 (2015)
  18. Black D, "Clinicopathologic significance of defective DNA mismatch repair in endometrial carcinoma", J Clin Oncol, 24, pp.1745~1753 (2006)
  19. Christina M. Nagle, "Endometrial cancer risk and survival by tumor MMR status", Journal of Gynecologic Oncology, 29(3), pp.1~14 (2018), 대한부인종양학회[DOI]
  20. Kommoss S, "Final validation of the ProMisE molecular classifier for endometrial carcinoma in a large population-based case series", Ann Oncol, 29, pp.1180~1188 (2018)
  21. Mackay HJ, "Prognostic value of microsatellite instability(MSI)and PTEN expression in women with endometrial cancer : results from studies of the NCIC Clinical Trials Group(NCIC CTG)", Eur J Cancer, 46, pp.1365~1373 (2010)
  22. Maruyama A, "Clinicopathologic and familial characteristics of endometrial carcinoma with multiple primary carcinomas in relation to the loss of protein expression of MSH2 and MLH1", Cancer, 91, pp.2056~2064 (2001)
  23. Mills AM, "Lynch syndrome screening should be considered for all patients with newly diagnosed endometrial cancer", Am J Surg Pathol, 38, pp.1501~1509 (2014)
  24. Djordjevic B, "Relationship between PTEN, DNA mismatch repair, and tumor histotype in endometrial carcinoma : retained positive expression of PTEN preferentially identifies sporadic non-endometrioid carcinomas", Mod Pathol, 26, pp.1401~1412 (2013)
  25. Okoye EI, "Defective DNA mismatch repair influences expression of endometrial carcinoma biomarkers", Int J Gynecol Pathol, 35, pp.8~15 (2016)
  26. Ruiz I, "Lack of association between deficient mismatch repair expression and outcome in endometrial carcinomas of the endometrioid type", Gynecol Oncol, 134, pp.20~23 (2014)
  27. Shikama A, "Clinicopathologic implications of DNA mismatch repair status in endometrial carcinomas", Gynecol Oncol, 140, pp.226~233 (2016)
  28. Stelloo E, "Refining prognosis and identifying targetable pathways for high-risk endometrial cancer : a Trans-PORTEC initiative", Mod Pathol, 28, pp.836~844 (2015)
  29. Talhouk A, "Molecular classification of endometrial carcinoma on diagnostic specimens is highly concordant with final hysterectomy : earlier prognostic information to guide treatment", Gynecol Oncol, 143, pp.46~53 (2016)
  30. Talhouk A, "Confirmation of ProMisE : a simple, genomics-based clinical classifier for endometrial cancer", Cancer, 123, pp.802~813 (2017)
  31. Alaa Salah Jumaah, "The frequency of POLE-mutation in endometrial carcinoma and prognostic implications: a systemic review and meta-analysis", Journal of Pathology and Translational Medicine, 54(6), pp.471~479 (2020), 대한병리학회[DOI]
  32. Moher D, "Preferred reporting items for systematic review and meta-analysis protocols(PRISMA-P)2015statement", Syst Rev, 4, pp.1~ (2015)
  33. Whiting PF, "QUADAS-2 : a revised tool for the quality assessment of diagnostic accuracy studies", Ann Intern Med, 155, pp.529~536 (2011)
  34. Kumar V, "Robbins and Contran pathologic basis of disease", pp.1014~1018 (2015), Saunders-Elsevier
  35. "Statistical software version 15.8" (2015)[URL]
  36. Riley RD, "Interpretation of random effects meta-analyses", BMJ, 342, pp.d549~ (2011)
  37. Higgins JP, "Measuring inconsistency in meta-analyses", BMJ, 327, pp.557~560 (2003)
  38. Sterne JA, "Recommendations for examining and interpreting funnel plot asymmetry in meta-analyses of randomised controlled trials", BMJ, 343, pp.d4002~ (2011)
  39. Ryan NA, "The proportion of endometrial cancers associated with Lynch syndrome : a systematic review of the literature and metaanalysis", Genet Med, 21, pp.2167~2180 (2019)
  40. Lorenzi M, "Epidemiology of microsatellite instability high(MSI-H)and deficient mismatch repair(dMMR)in solid tumors : a structured literature review", J Oncol, 2020, pp.1807929~ (2020)
  41. Ryan NAJ, "The prevalence of Lynch syndrome in women with endometrial cancer : a systematic review protocol", Syst Rev, 7, pp.121~ (2018)
  42. Jerzak KJ, "Endocrine therapy in endometrial cancer : an old dog with new tricks", Gynecol Oncol, 153, pp.175~183 (2019)
  43. Ashley CW, "Analysis of mutational signatures in primary and metastatic endometrial cancer reveals distinct patterns of DNA repair defects and shifts during tumor progression", Gynecol Oncol, 152, pp.11~19 (2019)
  44. Sargent DJ, "Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer", J Clin Oncol, 28, pp.3219~3226 (2010)
  45. Fujiyoshi K, "Metastatic pattern of stage IV colorectal cancer with high-frequency microsatellite instability as a prognostic factor", Anticancer Res, 37, pp.239~247 (2017)
  46. Fountzilas E, "Prognostic implications of mismatch repair deficiency in patients with nonmetastatic colorectal and endometrial cancer", ESMO Open, 4, pp.e000474~ (2019)
  47. Copija A, "Clinical significance and prognostic relevance of microsatellite instability in sporadic colorectal cancer patients", Int J Mol Sci, 18, pp.107~ (2017)

관련 논문AI추천

The frequency of POLE-mutation in endometrial carcinoma and prognostic implications: a systemic review and meta-analysisAkeel Abed Yasseen, Alaa Salah Jumaah, Hawraa Sahib Al-Haddad, Katherine Ann McAllister, Mais Muhammed Salim대한병리학회 · Journal of Pathology and Translational Medicine2020 · 제54권 제6호Clinical significance of mismatch repair genes immunohistochemical expression of complex endometrial hyperplasia김민규, 한수진대한산부인과학회 · Obstetrics & Gynecology Science2015 · 제58권 제2호Frequency of Mismatch Repair Deficiency/High Microsatellite Instability and Its Role as a Predictive Biomarker of Response to Immune Checkpoint Inhibitors in Gynecologic Cancers박현, 이찬, 김민규, 송승훈, 이정원, 정상근, 주원덕, 최민철, Joseph J. Noh대한암학회 · Cancer Research and Treatment2022 · 제54권 제4호A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients김용범, 노재홍, Ala Aiob, Dong Hoon Suh, Duck Woo Kim, Hyojin Kim, Kidong Kim, Kyoung Un Park, Soo Hyun Seo, Yeo Rae Kim대한산부인과학회 · Obstetrics & Gynecology Science2023 · 제66권 제6호Characteristics of hereditary nonpolyposis colorectal cancer patients with double primary cancers in endometrium and colorectum박성섭, 성문우, 송용상, 신소현, 유은정, 이유경대한산부인과학회 · Obstetrics & Gynecology Science2015 · 제58권 제2호A Case of Perimenopausal Endometrial Cancer in a Woman with MSH2 Germline Mutation김민규, 박정민, 이은희, 이현욱, 허은진대한폐경학회 · 대한폐경학회지2013 · 제19권 제3호

이 간행물의 다른 논문 (9건)