Molecular genetics of endometrial carcinoma

Diagnostic Histopathology

Volumn 15, Issue 12, 2009, Pages 554-563

  Catasus, Lluis ^a   Gallardo, Alberto ^a   Prat, Jaime ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

beta catenin; chromosomal instability; EEC; endometrial carcinoma; K RAS; MI; NEEC; P53; PIK3CA; PTEN

Indexed keywords

BETA CATENIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; K RAS PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN P53;

APOPTOSIS; ARTICLE; CELL CYCLE ARREST; DNA MICROARRAY; DNA SEQUENCE; ENDOMETRIUM CARCINOMA; GENE MUTATION; GENOME; GLUCOSE METABOLISM; HUMAN; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MOLECULAR GENETICS; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION;

EID: 70449532371     PISSN: 17562317     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mpdhp.2009.09.002     Document Type: Article

References (67)

1. American Cancer Society. Cancer facts and figures 2009 (2009), American Cancer Society, Atlanta, GA
2. Bokhman J.V. Two pathogenetic types of endometrial carcinoma. Gynecol Oncol 15 (1983) 10-17
3. Tashiro H., Isacson C., Levine R., Kurman R.J., Cho K.R., and Hedrick L. p53 gene mutations are common in uterine serous carcinoma and occur early in their pathogenesis. Am J Pathol 150 (1997) 177-185
4. Lax S.F., Kendall B., Tashiro H., Slebos R.J., and Hedrick L. The frequency of p53, K-Ras mutations, and microsatellite instability differs in uterine endometrioid and serous carcinoma: evidence of distinct molecular genetic pathways. Cancer 88 (2000) 814-824
5. Berchuck A., Rodriguez G., Kinney R.B., et al. Overexpression of HER-2/neu in endometrial cancer is associated with advanced stage disease. Am J Obstet Gynecol 164 (1991) 15-21
6. Tritz D., Pieretti M., Turner S., and Powell D. Loss of heterozygosity in usual and special variant carcinomas of the endometrium. Hum Pathol 28 (1997) 607-612
7. Burks R.T., Kessis T.D., Cho K.R., and Hedrick L. Microsatellite instability in endometrial carcinoma. Oncogene 9 (1994) 1163-1166
8. Duggan B.D., Felix J.C., Muderspach L.I., Tourgeman D., Zheng J., and Shibata D. Microsatellite instability in sporadic endometrial carcinoma. J Natl Cancer Inst 86 (1994) 1216-1221
9. Catasus L., Machin P., Matias-Guiu X., and Prat J. Microsatellite instability in endometrial carcinomas clinicopathologic correlations in a series of 42 cases. Hum Pathol 29 (1998) 1160-1164
10. Tashiro H., Blazes M.S., Wu R., et al. Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies. Cancer Res 57 (1997) 3935-3940
11. Risinger J.I., Hayes K., Maxwell G.L., et al. PTEN mutation in endometrial cancers is associated with favorable clinical and pathologic characteristics. Clin Cancer Res 4 (1998) 3005-3010
12. Maxwell G.L., Risinger J.I., Gumbs C., et al. Mutation of the PTEN tumor suppressor gene in endometrial hyperplasias. Cancer Res 58 (1998) 2500-2503
13. Bussaglia E., del Rio E., Matias-Guiu X., and Prat J. PTEN mutations in endometrial carcinomas: a molecular and clinicopathologic analysis of 38 cases. Hum Pathol 31 (2000) 312-317
14. Salvesen H.B., Stefansson I., Kretzschmar E.I., et al. Significance of PTEN alterations in endometrial carcinoma: a population-based study of mutations, promoter methylation and PTEN protein expression. Int J Oncol 25 (2004) 1615-1623
15. Oda K., Stokoe D., Taketani Y., and McCormick F. High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma. Cancer Res 65 (2005) 10669-10673
16. Velasco A., Bussaglia E., Pallares J., et al. PIK3CA gene mutations in endometrial carcinoma. Correlation with PTEN and K-Ras alterations. Hum Pathol 37 (2006) 1465-1472
17. Hayes M.P., Wang H., Espinal-Witter R., et al. PIK3CA and PTEN mutations in uterine endometrioid carcinoma and complex atypical hyperplasia. Clin Cancer Res 12 (2006) 5932-5935
18. Catasus L., Gallardo A., Cuatrecasas M., and Prat J. PIK3CA mutations in the kinase domain (exon 20) of uterine endometrial adenocarcinomas are associated with adverse prognostic parameters. Mod Pathol 21 (2008) 131-139
19. Enomoto T., Inoue M., Perantoni A.O., et al. K-Ras activation in premalignant and malignant epithelial lesions of the human uterus. Cancer Res 51 (1991) 5308-5314
20. Lagarda H., Catasus L., Arguelles R., Matias-Guiu X., and Prat J. K-Ras mutations in endometrial carcinomas with microsatellite instability. J Pathol 193 (2001) 193-199
21. Sasaki H., Nishii H., Tada A., et al. Mutation of the Ki-Ras protooncogene in human endometrial hyperplasia and carcinoma. Cancer Res 53 (1993) 1906-1910
22. Fukuchi T., Sakamoto M., Tsuda H., Maruyama K., Nozawa S., and Hirohashi S. Beta-catenin mutations in carcinoma of the uterine endometrium. Cancer Res 58 (1998) 3526-3528
23. Schlosshauer P.W., Pirog E.C., Levine R.L., and Ellenson L.H. Mutational analysis of the CTNNB1 and APC genes in uterine endometrioid carcinoma. Mod Pathol 13 (2000) 1066-1071
24. Machin P., Catasus L., Pons C., Muñoz J., Matias-Guiu X., and Prat J. CTNNB1 mutations and beta-catenin expression in endometrial carcinomas. Hum Pathol 33 (2002) 206-212
25. Ionov Y., Peinado M.A., Malkhosyan S., Shibata D., and Perucho M. Ubiquitous somatic mutation in simple repeated sequences reveals a new mechanism for colonic carcinogenesis. Nature 363 (1993) 558-561
26. Thibodeau S.N., Bren G., and Schaid V. Microsatellite instability in cancer of the proximal colon. Science 260 (1993) 816-819
27. Esteller M., Levine R., Baylin S.B., Ellenson L.H., and Herman J.G. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene 17 (1998) 2413-2417
28. Esteller M., Catasus L., Matias-Guiu X., et al. hMLH1 promoter hypermethylation is an early event in human endometrial tumorigenesis. Am J Pathol 155 (1999) 1767-1772
29. Maxwell G.L., Risinger J.I., Alvarez A.A., Barrett J.C., and Berchuck A. Favorable survival associated with microsatellite instability in endometrioid endometrial cancers. Obstet Gynecol 97 (2001) 417-422
30. Black D., Soslow R.A., Levine D.A., et al. Clinicopathologic significance of defective DNA mismatch repair in endometrial carcinoma. J Clin Oncol 24 (2006) 1745-1753
31. An H.J., Kim K.I., Kim J.Y., et al. Microsatellite instability in endometrioid type endometrial adenocarcinoma is associated with poor prognostic indicators. Am J Surg Pathol 31 (2007) 846-853
32. Catasus L., Matias-Guiu X., Machin P., Muñoz J., and Prat J. BAX somatic frameshift mutations in endometrioid adenocarcinomas of the endometrium: evidence for a tumor progression role in endometrial carcinomas with microsatellite instability. Lab Invest 78 (1998) 1439-1444
33. Gurin C.C., Federici M.G., Kang L., and Boyd J. Causes and consequences of microsatellite instability in endometrial carcinoma. Cancer Res 59 (1999) 462-466
34. Catasus L., Matias-Guiu X., Machin P., et al. Frameshift mutations at coding mononucleotide repeat microsatellites in endometrial carcinoma with microsatellite instability. Cancer 88 (2000) 2290-2297
35. Vassileva V., Millar A., Briollais L., Chapman W., and Bapat B. Genes involved in DNA repair are mutational targets in endometrial cancers with microsatellite instability. Cancer Res 62 (2002) 4095-4099
36. Vassileva V., Millar A., Briollais L., Chapman W., and Bapat B. Apoptotic and growth regulatory genes as mutational targets in mismatch repair deficient endometrioid adenocarcinomas of young patients. Oncol Rep 11 (2004) 931-937
37. Catasus L., Gallardo A., Cuatrecasas M., and Prat J. Concomitant PI3K-AKT and p53 alterations in endometrial carcinomas are associated with poor prognosis. Mod Pathol 22 (2009) 522-529
38. Mutter G.L., Lin M.C., Fitzgerald J.T., et al. Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers. J Natl Cancer Inst 92 (2000) 924-930
39. Bilbao C., Rodriguez G., Ramirez R., et al. The relationship between microsatellite instability and PTEN gene mutations in endometrial cancer. Int J Cancer 119 (2006) 563-570
40. Levine R.L., Cargile C.B., Blazes M.S., van Rees B., Kurman R.J., and Ellenson L.H. PTEN mutations and microsatellite instability in complex atypical hyperplasia, a precursor lesion to uterine endometrioid carcinoma. Cancer Res 58 (1998) 3254-3258
41. Minaguchi T., Yoshikawa H., Oda K., et al. PTEN mutation located only outside exons 5, 6, and 7 is an independent predictor of favorable survival in endometrial carcinomas. Clin Cancer Res 7 (2001) 2636-2642
42. Uegaki K., Kanamori Y., Kigawa J., et al. PTEN-positive and phosphorylated-Akt-negative expression is a predictor of survival for patients with advanced endometrial carcinoma. Oncol Rep 14 (2005) 389-392
43. Oda K., Okada J., Timmerman L., et al. PIK3CA cooperates with other phosphatidylinositol 3′-kinase pathway mutations to effect oncogenic transformation. Cancer Res 68 (2008) 8127-8136
44. Pallarés J., Velasco A., Eritja N., et al. Promoter hypermethylation and reduced expression of RASSF1A are frequent molecular alterations of endometrial carcinoma. Mod Pathol 21 (2008) 691-699
45. Brachtel E.F., Sánchez-Estevez C., Moreno-Bueno G., Prat J., Palacios J., and Oliva E. Distinct molecular alterations in complex endometrial hyperplasia (CEH) with and without immature squamous metaplasia (squamous morules). Am J Surg Pathol 29 (2005) 1322-1329
46. Moreno-Bueno G., Hardisson D., Sanchez C., et al. Abnormalities of the APC/beta-catenin pathway in endometrial cancer. Oncogene 21 (2002) 7981-7990
47. Christiansen J.J., and Rajasekaran A.K. Reassessing epithelial to mesenchymal transition as a prerequisite for carcinoma invasion and metastasis. Cancer Res 66 (2006) 8319-8326
48. Sakuragi N., Nishiya M., Ikeda K., et al. Decreased E-cadherin expression in endometrial carcinoma is associated with tumor dedifferentiation and deep myometrial invasion. Gynecol Oncol 53 (1994) 183-189
49. Mell L.K., Meyer J.J., Tretiakova M., et al. Prognostic significance of E-cadherin protein expression in pathological stage I-III endometrial cancer. Clin Cancer Res 10 (2004) 5546-5553
50. Moreno-Bueno G., Hardisson D., Sarrio D., et al. Abnormalities of E- and P-cadherin and catenin (beta-, gamma-catenin, and p120ctn) expression in endometrial cancer and endometrial atypical hyperplasia. J Pathol 199 (2003) 471-478
51. Moreno-Bueno G., Cubillo E., Sarrió D., et al. Genetic profiling of epithelial cells expressing E-cadherin repressors reveals a distinct role for Snail, Slug, and E47 factors in epithelial-mesenchymal transition. Cancer Res 66 (2006) 9543-9556
52. Blechschmidt K., Kremmer E., Hollweck R., et al. The E-cadherin repressor snail plays a role in tumor progression of endometrioid adenocarcinomas. Diagn Mol Pathol 16 (2007) 222-228
53. Hipp S., Walch A., Schuster T., Höfler H., and Becker K.F. Precise measurement of the E-cadherin repressor Snail in formalin-fixed endometrial carcinoma using protein lysate microarrays. Clin Exp Metastasis 25 (2008) 679-683
54. Kyo S., Sakaguchi J., Ohno S., et al. High Twist expression is involved in infiltrative endometrial cancer and affects patient survival. Hum Pathol 37 (2006) 431-438
55. Moll U.M., Chalas E., Auguste M., Meaney D., and Chumas J. Uterine papillary serous carcinoma evolves via a p53-driven pathway. Hum Pathol 27 (1996) 1295-1300
56. Sherman M.E., Bur M.E., and Kurman R.J. P53 in endometrial cancer and its putative precursors: evidence for diverse pathways of tumorigenesis. Hum Pathol 26 (1995) 1268-1274
57. Trahan S., Tetu B., and Raymond P.E. Serous papillary carcinoma of the endometrium arising from endometrial polyps: a clinical, histological, and immunohistochemical study of 13 cases. Hum Pathol 36 (2005) 1316-1321
58. Lee C., Kim J.S., and Waldman T. Activated PI3K signaling as an endogenous inducer of p53 in human cancer. Cell Cycle 6 (2007) 394-396
59. Prat J., Oliva E., Lerma E., Vaquero M., and Matías-Guiu X. Uterine papillary serous adenocarcinoma. A 10-case study of p53 and c-erbB-2 expression and DNA content. Cancer 74 (1994) 1778-1783
60. Santin A.D., Bellone S., Van Stedum S., et al. Amplification of c-erbB2 oncogene: a major prognostic indicator in uterine serous papillary carcinoma. Cancer 104 (2005) 1391-1397
61. Morrison C., Zanagnolo V., Ramirez N., et al. HER-2 is an independent prognostic factor in endometrial cancer: association with outcome in a large cohort of surgically staged patients. J Clin Oncol 24 (2006) 2376-2385
62. Cassia R., Moreno-Bueno G., Rodríguez-Perales S., Hardisson D., Cigudosa J.C., and Palacios J. Cyclin E gene (CCNE) amplification and hCDC4 mutations in endometrial carcinoma. J Pathol 201 (2003) 589-595
63. Moreno-Bueno G., Rodríguez-Perales S., Sánchez-Estévez C., et al. Molecular alterations associated with cyclin D1 overexpression in endometrial cancer. Int J Cancer 110 (2004) 194-200
64. Planaguma J., Abal M., Gil-Moreno A., et al. Up-regulation of ERM/ETV5 correlates with the degree of myometrial infiltration in endometrioid endometrial carcinoma. J Pathol 207 (2005) 422-429
65. Risinger J.I., Maxwell G.L., Chandramouli G.V., et al. Microarray analysis reveals distinct gene expression profiles among different histologic types of endometrial cancer. Cancer Res 63 (2003) 6-11
66. Moreno-Bueno G., Sánchez-Estévez C., Cassia R., et al. Differential gene expresión profile in endometrioid and nonendometrioid endometrial carcinoma: STK15 is frequently overexpressed and amplified in nonendometrioid carcinomas. Cancer Res 63 (2003) 5697-5702
67. Salvesen H.B., Carter S.L., Mannelqvist M., et al. Integrated genomic profiling of endometrial carcinoma associates aggressive tumors with indicators of PI3 kinase activation. Proc Natl Acad Sci USA 106 (2009) 4834-4839