Lynch Syndrome. Female Genital Tract Cancer Diagnosis and Screening.

Surgical Pathology Clinics

Volumn 9, Issue 2, 2016, Pages 201-214

  Mills, Anne M ^a   Longacre, Teri A ^b  

^a UNIVERSITY OF VIRGINIA   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Endometrial cancer; Hereditary nonpolyposis cancer syndrome; Lynch syndrome; Microsatellite instability; Mismatch repair proteins; Ovarian cancer

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; DNA; MLH1 PROTEIN, HUMAN; MUTL PROTEIN HOMOLOG 1;

CANCER EPIDEMIOLOGY; CANCER MORPHOLOGY; CANCER PROGNOSIS; CANCER RISK; CANCER SCREENING; DNA METHYLATION ASSAY; DNA MUTATIONAL ANALYSIS; ENDOMETRIUM CANCER; FEMALE GENITAL TRACT CANCER; GENE FUNCTION; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY ANALYSIS; MISMATCH REPAIR; MLH1 GENE; MLH2 GENE; MLH6 GENE; MOLECULAR DIAGNOSIS; NUCLEIC ACID ANALYSIS; OVARY CANCER; PMS2 GENE; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; RISK REDUCTION; SOMATIC MUTATION; DNA METHYLATION; EARLY CANCER DIAGNOSIS; ENDOMETRIAL NEOPLASMS; FEMALE; GENETICS; GENITAL NEOPLASMS, FEMALE; LYNCH SYNDROME II; MICROSATELLITE INSTABILITY; OVARIAN NEOPLASMS; PATHOLOGY; PROCEDURES; PROGNOSIS;

DNA METHYLATION; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; EARLY DETECTION OF CANCER; ENDOMETRIAL NEOPLASMS; FEMALE; GENITAL NEOPLASMS, FEMALE; GERM-LINE MUTATION; HUMANS; LYNCH SYNDROME II; MICROSATELLITE INSTABILITY; MUTL PROTEIN HOMOLOG 1; OVARIAN NEOPLASMS; PROGNOSIS;

EID: 84964344168     PISSN: 18759181     EISSN: 18759157     Source Type: Journal    
DOI: 10.1016/j.path.2016.01.004     Document Type: Review

References (61)

1. Aarnio M., Sankila R., Pukkala E., et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999, 81:214-218.
2. Vasen H.F., Watson P., Mecklin J.P., et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999, 116:1453-1456.
3. Watson P., Lynch H.T. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993, 71:677-685.
4. Lu K.H., Broaddus R.R. Gynecologic cancers in Lynch syndrome/HNPCC. Fam Cancer 2005, 4:249-254.
5. Hampel H., Frankel W., Panescu J., et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006, 66:7810-7817.
6. Hampel H., Frankel W.L., Martin E., et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005, 352:1851-1860.
7. Ollikainen M., Abdel-Rahman W.M., Moisio A.L., et al. Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?. J Clin Oncol 2005, 23:4609-4616.
8. Ferguson S.E., Aronson M., Pollett A., et al. Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing. Cancer 2014, 120:3932-3939.
9. Malander S., Rambech E., Kristoffersson U., et al. The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol Oncol 2006, 101:238-243.
10. Bewtra C., Watson P., Conway T., et al. Hereditary ovarian cancer: a clinicopathological study. Int J Gynecol Pathol 1992, 11:180-187.
11. Bonadona V., Bonaiti B., Olschwang S., et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 2011, 305:2304-2310.
12. Domanska K., Malander S., Masback A., et al. Ovarian cancer at young age: the contribution of mismatch-repair defects in a population-based series of epithelial ovarian cancer before age 40. Int J Gynecol Cancer 2007, 17:789-793.
13. Grindedal E.M., Renkonen-Sinisalo L., Vasen H., et al. Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. J Med Genet 2010, 47:99-102.
14. Jensen K.C., Mariappan M.R., Putcha G.V., et al. Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and younger. Am J Surg Pathol 2008, 32:1029-1037.
15. Ketabi Z., Bartuma K., Bernstein I., et al. Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors. Gynecol Oncol 2011, 121:462-465.
16. Watson P., Butzow R., Lynch H.T., et al. The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 2001, 82:223-228.
17. Buttin B.M., Powell M.A., Mutch D.G., et al. Increased risk for hereditary nonpolyposis colorectal cancer-associated synchronous and metachronous malignancies in patients with microsatellite instability-positive endometrial carcinoma lacking MLH1 promoter methylation. Clin Cancer Res 2004, 10:481-490.
18. Peltomaki P., Aaltonen L.A., Sistonen P., et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993, 260:810-812.
19. Loeb L.A. Microsatellite instability: marker of a mutator phenotype in cancer. Cancer Res 1994, 54:5059-5063.
20. Esteller M., Levine R., Baylin S.B., et al. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene 1998, 17:2413-2417.
21. Mills A.M., Liou S., Ford J.M., et al. Lynch syndrome screening should be considered for all patients with newly diagnosed endometrial cancer. Am J Surg Pathol 2014, 38:1501-1509.
22. Westin S.N., Lacour R.A., Urbauer D.L., et al. Carcinoma of the lower uterine segment: a newly described association with Lynch syndrome. J Clin Oncol 2008, 26:5965-5971.
23. Broaddus R.R., Lynch H.T., Chen L.M., et al. Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma. Cancer 2006, 106:87-94.
24. Carcangiu M.L., Radice P., Casalini P., et al. Lynch syndrome-related endometrial carcinomas show a high frequency of nonendometrioid types and of high FIGO grade endometrioid types. Int J Surg Pathol 2010, 18:21-26.
25. Garg K., Leitao M.M., Kauff N.D., et al. Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities. Am J Surg Pathol 2009, 33:925-933.
26. Honore L.H., Hanson J., Andrew S.E. Microsatellite instability in endometrioid endometrial carcinoma: correlation with clinically relevant pathologic variables. Int J Gynecol Cancer 2006, 16:1386-1392.
27. Ryan P., Mulligan A.M., 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.
28. Shia J., Black D., Hummer A.J., et al. Routinely assessed morphological features correlate with microsatellite instability status in endometrial cancer. Hum Pathol 2008, 39:116-125.
29. Kwon J.S., Scott J.L., Gilks C.B., et al. Testing women with endometrial cancer to detect Lynch syndrome. J Clin Oncol 2011, 29:2247-2252.
30. Altrabulsi B., Malpica A., Deavers M.T., et al. Undifferentiated carcinoma of the endometrium. Am J Surg Pathol 2005, 29:1316-1321.
31. Silva E.G., Deavers M.T., Bodurka D.C., et al. Association of low-grade endometrioid carcinoma of the uterus and ovary with undifferentiated carcinoma: a new type of dedifferentiated carcinoma?. Int J Gynecol Pathol 2006, 25:52-58.
32. Tafe L.J., Garg K., Chew I., et al. Endometrial and ovarian carcinomas with undifferentiated components: clinically aggressive and frequently underrecognized neoplasms. Mod Pathol 2010, 23:781-789.
33. Garg K., Soslow R.A. Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma. J Clin Pathol 2009, 62:679-684.
34. Mills A.M., Liou S., Kong C.S., et al. Are women with endocervical adenocarcinoma at risk for Lynch syndrome? Evaluation of 101 cases including unusual subtypes and lower uterine segment tumors. Int J Gynecol Pathol 2012, 31:463-469.
35. ten Broeke S.W., Brohet R.M., Tops C.M., et al. Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. J Clin Oncol 2015, 33:319-325.
36. Umar A., Boland C.R., Terdiman J.P., et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004, 96:261-268.
37. Vasen H.F., Mecklin J.P., Khan P.M., et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991, 34:424-425.
38. Lancaster J.M., Powell C.B., Chen L.M., et al. Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 2015, 136:3-7.
39. Leenen C.H., van Lier M.G., van Doorn H.C., et al. Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer
40. Mvundura M., Grosse S.D., Hampel H., et al. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med 2010, 12:93-104.
41. Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009, 11:35-41.
42. Mojtahed A., Schrijver I., Ford J.M., et al. A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas. Mod Pathol 2011, 24:1004-1014.
43. Shia J., Tang L.H., Vakiani E., et al. Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel. Am J Surg Pathol 2009, 33:1639-1645.
44. Modica I., Soslow R.A., Black D., et al. Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma. Am J Surg Pathol 2007, 31:744-751.
45. Geurts-Giele W.R., Leenen C.H., Dubbink H.J., et al. Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers. J Pathol 2014, 234:548-559.
46. Haraldsdottir S., Hampel H., Tomsic J., et al. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology 2014, 147:1308-1316.e1.
47. Mills A., Sloan E., Thomas M., et al. Clinicopathologic comparison of Lynch syndrome-associated and Lynch-like endometrial carcinomas identified on universal screening. Am J Surg Pathol 2015, 40(2):155-165.
48. Hagen C.E., Lefferts J., Hornick J.L., et al. "Null pattern" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation. Am J Surg Pathol 2011, 35:1902-1905.
49. Resnick K., Straughn J.M., Backes F., et al. Lynch syndrome screening strategies among newly diagnosed endometrial cancer patients. Obstet Gynecol 2009, 114:530-536.
50. Boland C.R., Thibodeau S.N., Hamilton S.R., et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998, 58:5248-5257.
51. Suraweera N., Duval A., Reperant M., et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002, 123:1804-1811.
52. McConechy M.K., Talhouk A., Li-Chang H.H., et al. Detection of DNA mismatch repair (MMR) deficiencies by immunohistochemistry can effectively diagnose the microsatellite instability (MSI) phenotype in endometrial carcinomas. Gynecol Oncol 2015, 137:306-310.
53. Bessa X., Balleste B., Andreu M., et al. A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening. Clin Gastroenterol Hepatol 2008, 6:206-214.
54. Kawaguchi M., Yanokura M., Banno K., et al. Analysis of a correlation between the BRAF V600E mutation and abnormal DNA mismatch repair in patients with sporadic endometrial cancer. Int J Oncol 2009, 34:1541-1547.
55. Buchanan D.D., Rosty C., Clendenning M., et al. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome). Appl Clin Genet 2014, 7:183-193.
56. 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.
57. Zighelboim I., Goodfellow P.J., 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.
58. Xiao X., Melton D.W., Gourley C. Mismatch repair deficiency in ovarian cancer-molecular characteristics and clinical implications. Gynecol Oncol 2014, 132:506-512.
59. Kandoth C., Schultz N., Cherniack A.D., et al. Integrated genomic characterization of endometrial carcinoma. Nature 2013, 497:67-73.
60. Schmeler K.M., Lynch H.T., Chen L.M., et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006, 354:261-269.
61. Frolova A.I., Babb S.A., Zantow E., et al. Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing. Gynecol Oncol 2015, 137:7-13.