Molecular Analysis of Endometrial Hyperplasia in HNPCC-suspicious Patients May Predict Progression to Endometrial Carcinoma

International Journal of Gynecological Pathology

Volumn 23, Issue 1, 2004, Pages 18-25

  Sutter, Christian ^a   Dallenbach Hellweg, Gisela ^b   Schmidt, Dietmar ^b   Baehring, Joachim ^a   Bielau, Simone ^a   Von Knebel Doeberitz, Magnus ^a   Gebert, Johannes ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b Institute of Pathology   (Germany)

Author keywords

Complex atypical hyperplasia; Endometrial cancer; Germline mutation; hMLH1; hMSH2 protein expression; Microsatellite instability; Progression to cancer

Indexed keywords

ADULT; ARTICLE; CANCER GROWTH; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; DNA SEQUENCE; ENDOMETRIUM CARCINOMA; ENDOMETRIUM HYPERPLASIA; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERPLASIA; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MOLECULAR STABILITY; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION;

ADENOCARCINOMA; ADULT; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DISEASE PROGRESSION; DNA-BINDING PROTEINS; ENDOMETRIAL HYPERPLASIA; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN; POLYMERASE CHAIN REACTION; PROGNOSIS; PROTO-ONCOGENE PROTEINS;

EID: 0347511896     PISSN: 02771691     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.pgp.0000101085.35393.4a     Document Type: Article

References (41)

1. Dallenbach-Hellweg G. Endometrial carcinomas. Curr Top Pathol 1992;85:1-34.
2. Lax SF, Kurman RJ. A dualistic model for endometrial carcinogenesis based on immunohistochemical and molecular genetic analyses. Verh Dtsch Ges Pathol 1997;81:228-32.
3. Lax SF, Kendall B, Tashiro H, et al. The frequency of p53, K-ras mutations, and microsatellite instability differs in uterine endometrioid and serous carcinoma: evidence of distinct molecular genetic pathways. Cancer 2000;88:814-24.
4. Matias-Guiu X, Catasus L, Bussaglia E, et al. Molecular pathology of endometrial hyperplasia and carcinoma. Hum Pathol 2001;32:569-77.
5. Lengauer C, Kinzler KW, Vogelstein B. Genetic instabilities in human cancers. Nature 1998;396:643-9.
6. Perucho M, Peinado MA, Ionov Y, et al. Defects in replication fidelity of simple repeated sequences reveal a new mutator mechanism for oncogenesis. Cold Spring Harb Symp Quant Biol 1994;59:339-48.
7. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homologue MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;75:1027-38.
8. Bronner CE, Baker SM, Morrison PT, et al. Mutation in the DNA mismatch-repair homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994;368:258-61.
9. Nicolaides NC, Papadopoulos N, Liu B, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994;371:75-80.
10. Wijnen J, de Leeuw W, Vasen H, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999;23:142-4.
11. Caduff RF, Johnston CM, Svoboda-Newman SM, et al. Clinical and pathological significance of microsatellite instability in sporadic endometrial carcinoma. Am J Pathol 1996;148:1671-8.
12. MacDonald ND, Salvesen HB, Ryan A, et al. Frequency and prognostic impact of microsatellite instability in a large population-based study of endometrial carcinomas. Cancer Res 2000;60:1750-2.
13. Esteller M, Catasus L, Matias-Guiu X, et al. hMLH1 promoter hypermethylation is an early event in human endometrial tumorigenesis. Am J Pathol 1999:155:1767-72.
14. Simpkins SB, Bocker T, Swisher EM, et al. MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers. Human Mol Genet 1999;8:661-6.
15. Risinger JI, Berchuck A, Kohler MF, et al. Genetic instability of microsatellites in endometrial carcinoma. Cancer Res 1993;53:5100-3.
16. Kurman RJ, Kaminski PF, Norris HJ. The behavior of endometrial hyperplasia. The behavior of endometrial hyperplasia. A long-term study of "untreated" hyperplasia in 170 patients. Cancer 1985;56:403-12.
17. Kiechle M, Hinrichs M, Jacobsen A, et al. Genetic imbalances in precursor lesions of endometrial cancer detected by comparative genomic hybridization. Am J Pathol 2000;156:1827-33.
18. Berends MJW, Hollema H, Wu Y, et al. MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and nonhereditary endometrial hyperplasia and cancer. Int J Cancer 2001;92:398-403.
19. deLeeuw WJ, Dierssen J, Vasen HF, et al. Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial turnouts from HNPCC-patients. J Pathol 2000;192:328-35.
20. Boland CR, Thibodeau SN, Hamilton SR, 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;58:5248-57.
21. Sutter C, Gebert J, Bischoff P, et al. Molecular screening of potential HNPCC patients using a multiplex microsatellite PCR system. Mol Cell Probes 1999;13:157-65.
22. Kolodner RD, Hall NR, Lipford J, et al. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics 1994;24:516-26.
23. Kolodner RD, Hall NR, Lipford J, et al. Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res 1995;55:242-8.
24. Wüllenweber HP, Sutter C, Autschbach F, et al. Evaluation of Bethesda Guidelines in correlation to microsatellite instability. Dis Colon Rectum 2001;44:1281-9.
25. Burks RT, Kessis TD, Cho KR, et al. Microsatellite instability in endometrial carcinoma. Oncogene 1994;9:1163-6.
26. Parc YEARS, 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;86:60-6.
27. Kobayashi K, Sagae S, Kudo R, et al. Microsatellite instability in endometrial carcinomas: frequent replication errors in tumors of early onset and/or of poorly differentiated type. Genes Chromosomes Cancer 1995;14:128-32.
28. Kong D, Suzuki A, Zou TT, et al. PTEN1 is frequently mutated in primary endometrial carcinomas. Nat Genet 1997;17:143-4.
29. Levine RL, Cargile CB, Blazes MS, et al. PTEN mutations and microsatellite instability in complex atypical hyperplasia, a precursor lesion to uterine endometrioid carcinoma. Cancer Res 1998;58:3254-8.
30. Mutter GL, Lin MC, Fitzgerald JT, et al. Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers. J Natl Cancer Inst 2000;92:924-30.
31. Mirabelli-Primdahl L, Gryfe R, Kim H, et al. Beta-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Cancer Res 1999;59:3346-51.
32. Woemer SM, Gebert J, Yuan YP, et al. Systematic identification of genes with coding microsatellites mutated in DNA mismatch repair-deficient cancer cells. Int J Cancer 2001;93:12-9.
33. Linnebacher M, Gebert J, Rudy W, et al. Frameshift peptide-derived T-cell epitopes: a source of novel tumor-specific antigens. Int J Cancer 2001;93:6-11.
34. Hoang JM, Cottu PH, Thuille B, et al. BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res 1997;57:300-3.
35. Zhou XP, Hoang JM, Li YL, et al. Determination of the replication error phenotype in human tumors without the requirements for matching normal DNA by analysis of mononucleotide repeat microsatellites. Genes Chromosomes Cancer 1998;21:101-7.
36. Vasen HF, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996;110:1020-7.
37. 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;61:2813-5.
38. Yuan ZQ, Wong N, Foulkes WD, et al. A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening. J Med Genet 1999;36:790-3.
39. Guerrette S, Wilson T, Gradia S, et al. Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. Mol Cell Biol 1998;18:6616-23.
40. Dallenbach-Hellweg G, Weber J, Stoll P, et al. Zur Differential-diagnose adenomatöser Endometriumhyperplasien junger Frauen. Arch Gynakol 1971;210:303-20.
41. Lee KR, Scully RE. Complex endometrial hyperplasia and carcinoma in adolescents and young women 15 to 20 years of age: a report of 10 cases. Int J Gynecol Pathol 1989;8:201-13.