Lynch syndrome-related endometrial carcinomas show a high frequency of nonendometrioid types and of high FIGO grade endometrioid types

International Journal of Surgical Pathology

Volumn 18, Issue 1, 2010, Pages 21-26

  Carcangiu, Maria Luisa ^a   Radice, Paolo ^b   Casalini, Patrizia ^c   Bertario, Lucio ^d   Merola, Marina ^a,e   Sala, Paolo ^d  

^a NATIONAL CANCER INSTITUTE   (Italy)

^b Department of Experimental Oncology

^c Department of Experimental Oncology

^d Medical Genetics Service   (Canada)

^e Gynecological Unit

Author keywords

Endometrial carcinoma; Histologic types; Lynch syndrome

Indexed keywords

ADULT; AGED; ARTICLE; CANCER GRADING; CANCER STAGING; CANCER SURVIVAL; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOMETRIUM CARCINOMA; FAMILIAL CANCER; FEMALE; GENE; GENE MUTATION; HISTOLOGY; HUMAN; HUMAN TISSUE; LOG RANK TEST; MLH1 GENE; MSH2 GENE; NONENDOMETRIOID CARCINOMA; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; CARCINOMA, ENDOMETRIOID; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA, NEOPLASM; ENDOMETRIAL NEOPLASMS; FEMALE; GERM-LINE MUTATION; HUMANS; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NEOPLASM STAGING; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SURVIVAL RATE;

EID: 76649130529     PISSN: 10668969     EISSN: 19402465     Source Type: Journal    
DOI: 10.1177/1066896909332117     Document Type: Article

References (30)

1. Vasen HF Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer. 2005 ; 4: 219-225.
2. Watson P., Vasen HF, Mecklin JP, Jarvinen H., Lynch HT The risk of endometrial cancer in hereditary nonpolyposis colorectal cancer. Am J Med. 1994 ; 96: 516-520. (Pubitemid 24184436)
3. Vasen HF, Watson P., Mecklin JP, et al. The epidemiology of endometrial cancer in hereditary nonpolyposis colorectal cancer. Anticancer Res. 1994 ; 14: 1675-1678. (Pubitemid 24357004)
4. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet. 1997 ; 6: 105-110.
5. 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.
6. 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.
7. Acharya S., Wilson T., Gradia S., et al. hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc Natl Acad Sci USA. 1996 ; 93: 13629-13634.
8. Schweizer P., Moisio AL, Kuismanen SA, et al. Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer. Cancer Res. 2001 ; 61: 2813-2815.
9. Berends MJ, Wu Y., Sijmons RH, et al. Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Genet. 2002 ; 70: 26-37.
10. Macdonald ND, Salvesen HB, Ryan A., et al. Molecular differences between RER+ and RER- sporadic endometrial carcinomas in a large population-based series. Int J Gynecol Cancer. 2004 ; 14: 957-965.
11. van Krieken JH, Kets CM, Ligtenberg MJ, Hoogerbrugge N. Detecting Lynch syndrome by pathologists. Verh Dtsch Ges Pathol. 2007 ; 91: 104-111.
12. Pensotti V., Radice P., Presciuttini S., et al. Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes. Genes Chromosomes Cancer. 1997 ; 19: 135-142.
13. Holinski-Feder E., Müller-Koch Y., Friedl W., et al. DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. J Biochem Biophys Methods. 2001 ; 47: 21-32.
14. Peterlongo P., Nafa K., Lerman GS, et al. MSH6 germline mutations are rare in colorectal cancer families. Int J Cancer. 2003 ; 107: 571-579.
15. De Lellis L., Curia MC, Catalano T., et al. Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements. Hum Mutat. 2006 ; 27: 1047-1056.
16. Chao EC, Velasquez JL, Witherspoon MS, et al. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat. 2008 ; 29: 852-860.
17. Silverberg SG, Kurman RJ, Nogales F., Mutter GL, Kubik-Huch RA, Tavassoli FA Epithelial tumors and related lesions. In: Tavassoli FA, Devilee P, eds. World Health Organization Classification of Tumours. Pathology and Genetics of Tumors of the Breast and Female Genital Organs. Lyon, France: IARC Press; 2003: 226-232.
18. Boks DE, Trujillo AP, Voogd AC, Morreau H., Kenter GG, Vasen HF Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer. Int J Cancer. 2002 ; 102: 198-200.
19. Drake AC, Campbell H., Porteous ME, Dunlop MG The contribution of DNA mismatch repair gene defects to the burden of gynecological cancer. Int J Gynecol Cancer. 2003 ; 13: 262-277.
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. 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.
22. Chadwick RB, Pyatt RE, Niemann TH, et al. Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma. J Med Genet. 2001 ; 38: 461-466.
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. Duska LR, Garrett A., Rueda BR, Haas J., Chang Y., Fuller AF Endometrial cancer in women 40 years old or younger. Gynecol Oncol. 2001 ; 83: 388-393.
25. South SA, Hutton M., Farrell C., Mhawech-Fauceglia P., Rodabaugh KJ Uterine carcinosarcoma associated with hereditary nonpolyposis colorectal cancer. Obstet Gynecol. 2007 ; 110: 543-545.
26. Ronnett B., Zaino R., Ellenson L., Kurman RJ Endometrial carcinoma. In: Kurman RJ, ed. Blaustein's Pathology of the Female Genital Tract. New York, NY: Springer-Verlag; 2002: 460-501.
27. McCluggage WG Uterine carcinosarcomas (malignant mixed Mullerian tumors) are metaplastic carcinomas. Int J Gynecol Cancer. 2002 ; 12: 687-690.
28. 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.
29. Carcangiu ML, Chambers JT Uterine papillary serous carcinoma: a study on 108 cases with emphasis on the prognostic significance of associated endometrioid carcinoma, absence of invasion and concomitant ovarian carcinoma. Gynecol Oncol. 1992 ; 47: 298-305.
30. Mariani A., Dowdy SC, Keeney GL, Long HJ, Lesnick TG, Podratz KC High-risk endometrial cancer subgroups: candidates for target-based adjuvant therapy. Gynecol Oncol. 2004 ; 95: 120-126