Identifying lynch syndrome in patients with endometrial carcinoma: Shortcomings of morphologic and clinical schemas

Advances in Anatomic Pathology

Volumn 19, Issue 4, 2012, Pages 231-238

  Clarke, Blaise A ^a,b   Cooper, Kumarasen ^c  

^a UNIVERSITY OF TORONTO   (Canada)

^b TORONTO GENERAL HOSPITAL   (Canada)

^c UNIVERSITY OF VERMONT   (United States)

Author keywords

clinical schemas; endometrial cancer; lynch; morphologic schemas; reflex testing

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

CANCER GRADING; CANCER INVASION; CANCER PATIENT; CANCER SCREENING; CANCER STAGING; CELL TYPE; CLINICAL FEATURE; DISEASE ASSOCIATION; ENDOMETRIUM CARCINOMA; FAMILY HISTORY; GENE MUTATION; GENOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MORPHOLOGY; OVARY CANCER; PATHOLOGIST; PATIENT CARE; PRIORITY JOURNAL; REVIEW; TUMOR ASSOCIATED LEUKOCYTE; TUMOR DIFFERENTIATION; TUMOR LOCALIZATION; UNITED STATES;

ADULT; AGED; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC TESTING; HUMANS; MICROSATELLITE INSTABILITY; MIDDLE AGED;

EID: 84862568371     PISSN: 10724109     EISSN: 15334031     Source Type: Journal    
DOI: 10.1097/PAP.0b013e31825c6b76     Document Type: Review

References (44)

1. Hewish M, Lord CJ, Martin SA, et al. Mismatch repair deficient colorectal cancer in the era of personalized treatment. Nat Rev Clin Oncol. 2010;7:197-208
2. Lu KH, Dinh M, Kohlmann W, et al. Gynecologic cancer as a sentinel cancer for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol. 2005;105:569-574
3. Schmeler KM, Lu KH. Gynecologic cancers associated with Lynch syndrome/HNPCC. Clin Transl Oncol. 2008;10: 313-317
4. Turner JW, Frederick LB, Bloom KJ, et al. Prognostic uses of MSI testing 2011. Available at: http://www.cap.org/apps/docs/ committees/technology/ microsatellite/testingpdf
5. Kalloger SE, Allo G, Mulligan AM, et al. Use of mismatch repair immunohistochemistry and microsatellite instability testing: exploring Canadian practices. Am J Surg Pathol. 2012; 36:560-569
6. Sanchez JA, Vogel JD, Kalady MF, et al. Identifying Lynch syndrome: we are all responsible. Dis Colon Rectum. 2008; 51:1750-1756
7. Boland CR, Shike M. Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer. Gastroenterology. 2010;138:e1-e7
8. de la Chapelle A, Palomaki G, Hampel H. Identifying Lynch syndrome. Int J Cancer. 2009;125:1492-1493
9. Ladabaum U,Wang G, Terdiman J, et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer. Ann Intern Med. 2011;155:69-79
10. Resnick K, Straughn JM Jr, Backes F, et al. Lynch syndrome screening strategies among newly diagnosed endometrial cancer patients. Obstet Gynecol. 2009;114:530-536
11. Walsh MD, Cummings MC, Buchanan DD, et al. Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients. Clin Cancer Res. 2008;14:1692-1700
12. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352:1851-1860
13. Hampel H, Panescu J, Lockman J, et al. Comment on: screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2007;67:9603
14. Ryan P, Mulligan AM, Aronson M, et al. Comparison of clinical schemas and morphologic features in predicting Lynch syndrome in mutation-positive patients with endometrial cancer encountered in the context of familial gastrointestinal cancer registries. Cancer. 2012;118:681-688
15. Lancaster JM, Powell CB, Kauff ND, et al. Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol. 2007;107:159-162
16. Teutsch SM, Bradley LA, Palomaki GE, et al. The evaluation of genomic applications in practice and prevention (EGAPP) initiative: methods of the EGAPP Working Group. Genet Med. 2009;11:3-14
17. Broaddus RR, Lynch HT, Chen LM, et al. Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma. Cancer. 2006;106: 87-94
18. Palacios J, Alenda C, Lujan D, et al. Pathological features of endometrial cancer in patients with Lynch syndrome. Lab Invest. 2010;90(SUPPL. 1):258A
19. Carcangiu ML, Radice P, Casalini P, et al. Lynch syndromerelated endometrial carcinomas show a high frequency of nonendometrioid types and of high FIGO grade endometrioid types. Int J Surg Pathol. 2010;18:21-26
20. van den Bos M, van den Hoven M, Jongejan E, et al. More differences between HNPCC-related and sporadic carcinomas from the endometrium as compared to the colon. Am J Surg Pathol. 2004;28:706-711
21. de Leeuw WJ, Dierssen J, Vasen HF, et al. Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients. J Pathol. 2000;192:328-335
22. Westin SN, Lacour RA, Urbauer DL, et al. Carcinoma of the lower uterine segment: a newly described association with Lynch syndrome. J Clin Oncol. 2008;26:5965-5971
23. Berends MJ, Wu Y, Sijmons RH, et al. Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis. J Clin Oncol. 2003;21: 4364-4370
24. Garg K, Soslow RA. Lynch syndrome (hereditary nonpolyposis colorectal cancer) and endometrial carcinoma. J Clin Pathol. 2009;62:679-684
25. Shia J, Black D, Hummer AJ, et al. Routinely assessed morphological features correlate with microsatellite instability status in endometrial cancer. Hum Pathol. 2008;39:116-125
26. Djordjevic B, Broaddus RR. Conventional screening criteria may miss a high proportion of Lynch syndrome patients with endometrial carcinoma due to PMS2 loss. Mod Pathol. 2012;25(SUPPL. 2): Abstract 1118
27. Soliman PT, Broaddus RR, Schmeler KM, et al. Women with synchronous primary cancers of the endometrium and ovary: do they have Lynch syndrome? J Clin Oncol. 2005;23:9344-9350
28. Palma L, Marcus V, Gilbert L, et al. Synchronous occult cancers of endometrium and fallopian tube in an MSH2 mutation carrier at time of prophylactic surgery. Gynecol Oncol. 2008;111:575-578
29. Goodfellow PJ, Buttin BM, Herzog TJ, et al. Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc Natl Acad Sci USA. 2003;100:5908-5913
30. Baglietto L, Lindor NM, Dowty JG, et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010;102:193-201
31. Hendriks YM, Wagner A, Morreau H, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology. 2004;127:17-25
32. Bessa X, Alenda C, Paya A, et al. Validation microsatellite path score in a population-based cohort of patients with colorectal cancer. J Clin Oncol. 2011;29:3374-3380
33. Hirasawa A, Aoki D, Inoue J, et al. Unfavorable prognostic factors associated with high frequency of microsatellite instability and comparative genomic hybridization analysis in endometrial cancer. Clin Cancer Res. 2003;9:5675-5682
34. Zighelboim I, Goodfellow PJ, Gao F, et al. Microsatellite instability and epigenetic inactivation of MLH1 and outcome of patients with endometrial carcinomas of the endometrioid type. J Clin Oncol. 2007;25:2042-2048
35. Honore LH, Hanson J, Andrew SE. Microsatellite instability in endometrioid endometrial carcinoma: correlation with clinically relevant pathologic variables. Int J Gynecol Cancer. 2006;16:386-392
36. Parc YR, Halling KC, Burgart LJ, et al. Microsatellite instability and hMLH1/hMSH2 expression in young endometrial carcinoma patients: associations with family history and histopathology. Int J Cancer. 2000;86:60-66
37. Catasus L, Bussaglia E, Rodrguez I, et al. Molecular genetic alterations in endometrioid carcinomas of the ovary: similar frequency of beta-catenin abnormalities but lower rate of microsatellite instability and PTEN alterations than in uterine endometrioid carcinomas. Hum Pathol. 2004;35:1360-1368
38. Fiumicino S, Ercoli A, Ferrandina G, et al.Microsatellite instability is an independent indicator of recurrence in sporadic stage I-II endometrial adenocarcinoma. J Clin Oncol. 2001;19:1008-1014
39. Toledo G, Growdon WB, Dias-Santagata D, et al. Microsatellite instability status and clinicopathologic profile of endometrial cancer (EC) in young women (<50 years). Mod Pathol. 2008;21(SUPPL. 1):Abstract 1036
40. Stefansson I, Akslen LA, MacDonald N, et al. Loss of hMSH2 and hMSH6 expression is frequent in sporadic endometrial carcinomas with microsatellite instability: a populationbased study. Clin Cancer Res. 2002;8:138-143
41. Chubak B, Heald B, Sharp RR. Informed consent to microsatellite instability and immunohistochemistry screening for Lynch syndrome. Genet Med. 2011;13:356-360
42. Bartley AN, Luthra R, Saraiya DS, et al. Identification of cancer patients with Lynch syndrome: clinically significant discordances and problems in tissue-based mismatch repair testing. Cancer Prev Res (Phila). 2012;5:320-327
43. Kwon JS, Scott JL, Gilks CB, et al. Testing women with endometrial cancer to detect Lynch syndrome. J Clin Oncol. 2011;29:2247-2252
44. Beamer LC, Grant ML, Espenschied CR, et al. Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results. J Clin Oncol. 2010;30:1058-1063