Skip to main content

Molecular Pathology and Cytogenetics of Endometrial Carcinoma, Carcinosarcoma, and Uterine Sarcomas

  • Chapter
  • First Online:
Uterine Cancer

Part of the book series: Current Clinical Oncology ((CCO))

  • 741 Accesses

Abstract

Molecular pathology and genetics are the subject of increasing focus since they are providing a link between etiologic factors and the heterogeneity of clinicopathologic manifestations that have been covered in the preceding chapters. In endometrial cancer, two divergent pathways have been delineated that may be thought as analogous to the hormone-dependent and -independent subtypes in breast and prostate cancers. The subtypes of endometrial adenocarcinoma reflect differences in the dysregulation of hormone-dependent and -independent pathways and may be subject to increasing manipulation described in Chapters 6 and 15. Knowledge on alterations in sarcomas will hopefully lead to advances in diagnosis and therapy that are urgently needed in women where spread beyond the uterus has occurred.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 249.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Matias-Guiu X, Catasus L, Bussaglia E, et al Molecular pathology of endometrial hyperplasia and carcinoma. Hum Pathol. 2001;32(6):569–577.

    Article  PubMed  CAS  Google Scholar 

  2. 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(22):5248–5257.

    Google Scholar 

  3. Umar A, Boland CR, Terdiman JP, et al Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96(4):261–268.

    Article  PubMed  CAS  Google Scholar 

  4. Boyd J. Genetic basis of familial endometrial cancer: is there more to learn? J Clin Oncol. 2005;23(21):4570–4573.

    Article  PubMed  CAS  Google Scholar 

  5. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116(6):1453–1456.

    Article  PubMed  CAS  Google Scholar 

  6. Wijnen J, de Leeuw W, Vasen H, et al Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet. 1999;23(2):142–144.

    Article  PubMed  CAS  Google Scholar 

  7. Risinger JI, Berchuck A, Kohler MF, et al. Genetic instability of microsatellites in endometrial carcinoma. Cancer Res. 1993;53(21):5100–5103.

    PubMed  CAS  Google Scholar 

  8. Burks RT, Kessis TD, Cho KR, Microsatellite instability in endometrial carcinoma. Oncogene. 1994;9(4):1163–1166.

    PubMed  CAS  Google Scholar 

  9. Duggan BD, Felix JC, Muderspach LI, Tsao JL, Shibata DK. Early mutational activation of the c-Ki-ras oncogene in endometrial carcinoma. Cancer Res. 1994;54(6):1604–1607.

    PubMed  CAS  Google Scholar 

  10. Basil JB, Goodfellow PJ, Rader JS, Mutch DG, Herzog TJ. Clinical significance of microsatellite instability in endometrial carcinoma. Cancer. 2000;89(8):1758–1764.

    Article  PubMed  CAS  Google Scholar 

  11. MacDonald ND, Salvesen HB, Ryan A, Iversen OE, Akslen LA, Jacobs IJ. Frequency and prognostic impact of microsatellite instability in a large population-based study of endometrial carcinomas. Cancer Res. 2000;60(6):1750–1752.

    PubMed  CAS  Google Scholar 

  12. 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 U S A. 2003;100(10):5908–5913.

    Article  PubMed  CAS  Google Scholar 

  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(5):1767–1772.

    Article  PubMed  CAS  Google Scholar 

  14. Salvesen HB, MacDonald N, Ryan A, et al Methylation of hMLH1 in a population-based series of endometrial carcinomas. Clin Cancer Res. 2000;6(9):3607–3613.

    PubMed  CAS  Google Scholar 

  15. Kanaya T, Kyo S, Maida Y, et al Frequent hypermethylation of MLH1 promoter in normal endometrium of patients with endometrial cancers. Oncogene. 2003;22(15):2352–2360.

    Article  PubMed  CAS  Google Scholar 

  16. Stefansson I, Akslen LA, MacDonald N, et al Loss of hMSH2 and hMSH6 expression is frequent in sporadic endometrial carcinomas with microsatellite instability: a population-based study. Clin Cancer Res. 2002;8(1):138–143.

    PubMed  CAS  Google Scholar 

  17. Hardisson D, Moreno-Bueno G, Sanchez L, et al Tissue microarray immunohistochemical expression analysis of mismatch repair (hMLH1 and hMSH2 genes) in endometrial carcinoma and atypical endometrial hyperplasia: relationship with microsatellite instability. Mod Pathol. 2003;16(11):1148–1158.

    Article  PubMed  Google Scholar 

  18. Schwartz S, Yamamoto H, Navarro M, Maestro M, Reventos J, Perucho M. Frameshift mutations at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res. 1999;59(12):2995–3002.

    PubMed  CAS  Google Scholar 

  19. Catasus L, Matias-Guiu X, Machin P, et al Frameshift mutations at coding mononucleotide repeat microsatellites in endometrial carcinoma with microsatellite instability. Cancer. 2000;88(10):2290–2297.

    Article  PubMed  CAS  Google Scholar 

  20. Furlan D, Casati B, Cerutti R, et al Genetic progression in sporadic endometrial and gastrointestinal cancers with high microsatellite instability. J Pathol. 2002;197(5):603–609.

    Article  PubMed  CAS  Google Scholar 

  21. Maxwell GL, Risinger JI, Alvarez AA, Barrett JC, Berchuck A. Favorable survival associated with microsatellite instability in endometrioid endometrial cancers. Obstet Gynecol. 2001;97(3):417–422.

    Article  PubMed  CAS  Google Scholar 

  22. Peiffer SL, Herzog TJ, Tribune DJ, Mutch DG, Gersell DJ, Goodfellow PJ. Allelic loss of sequences from the long arm of chromosome 10 and replication errors in endometrial cancers. Cancer Res. 1995;55(9):1922–1926.

    PubMed  CAS  Google Scholar 

  23. Risinger JI, Hayes AK, Berchuck A, Barrett JC. PTEN/MMAC1 mutations in endometrial cancers. Cancer Res. 1997;57(21):4736–4738.

    PubMed  CAS  Google Scholar 

  24. 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. 2003;199(4):471–478.

    Article  PubMed  CAS  Google Scholar 

  25. Sun H, Enomoto T, Fujita M, et al Mutational analysis of the PTEN gene in endometrial carcinoma and hyperplasia. Am J Clin Pathol. 2001;115(1):32–38.

    Article  PubMed  CAS  Google Scholar 

  26. 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(11):924–930.

    Article  PubMed  CAS  Google Scholar 

  27. Orbo A, Kaino T, Arnes M, Kopp M, Eklo K. Genetic derangements in the tumor suppressor gene PTEN in endometrial precancers as prognostic markers for cancer development: a population-based study from northern Norway with long-term follow-up. Gynecol Oncol. 2004;95(1):82–88.

    Article  PubMed  CAS  Google Scholar 

  28. Brachtel EF, Sanchez-Estevez C, Moreno-Bueno G, Prat J, Palacios J, Oliva E. Distinct molecular alterations in complex endometrial hyperplasia (CEH) with and without immature squamous metaplasia (squamous morules). Am J Surg Pathol. 2005;29(10):1322–1329.

    Article  PubMed  Google Scholar 

  29. Mutter GL, Ince TA, Baak JP, Kust GA, Zhou XP, Eng C. Molecular identification of latent precancers in histologically normal endometrium. Cancer Res. 2001;61(11):4311–4314.

    PubMed  CAS  Google Scholar 

  30. Bussaglia E, del Rio E, Matias-Guiu X, Prat J. PTEN mutations in endometrial carcinomas: a molecular and clinicopathologic analysis of 38 cases. Hum Pathol. 2000;31(3):312–317.

    Article  PubMed  CAS  Google Scholar 

  31. Koul A, Willen R, Bendahl PO, Nilbert M, Borg A. Distinct sets of gene alterations in endometrial carcinoma implicate alternate modes of tumorigenesis. Cancer. 2002;94(9):2369–2379.

    Article  PubMed  CAS  Google Scholar 

  32. Risinger JI, Hayes K, Maxwell GL, et al PTEN mutation in endometrial cancers is associated with favorable clinical and pathologic characteristics. Clin Cancer Res. 1998;4(12):3005–3010.

    PubMed  CAS  Google Scholar 

  33. Maxwell GL, Risinger JI, Hayes KA, et al Racial disparity in the frequency of PTEN mutations, but not microsatellite instability, in advanced endometrial cancers. Clin Cancer Res. 2000;6(8):2999–3005.

    PubMed  CAS  Google Scholar 

  34. Salvesen HB, Stefansson I, Kretzschmar EI, et al Significance of PTEN alterations in endometrial carcinoma: a population-based study of mutations, promoter methylation and PTEN protein expression. Int J Oncol. 2004;25(6):1615–1623.

    PubMed  CAS  Google Scholar 

  35. Pallares J, Bussaglia E, Martinez-Guitarte JL, et al Immunohistochemical analysis of PTEN in endometrial carcinoma: a tissue microarray study with a comparison of four commercial antibodies in correlation with molecular abnormalities. Mod Pathol. 2005;18(5):719–727.

    Article  PubMed  CAS  Google Scholar 

  36. Oda K, Stokoe D, Taketani Y, McCormick F. High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma. Cancer Res. 2005;65(23):10669–10673.

    Article  PubMed  CAS  Google Scholar 

  37. Schlosshauer PW, Pirog EC, Levine RL, Ellenson LH. Mutational analysis of the CTNNB1 and APC genes in uterine endometrioid carcinoma. Mod Pathol. 2000;13(10):1066–1071.

    Article  PubMed  CAS  Google Scholar 

  38. Moreno-Bueno G, Hardisson D, Sanchez C, et al Abnormalities of the APC/beta-catenin pathway in endometrial cancer. Oncogene. 2002;21(52):7981–7990.

    Article  PubMed  CAS  Google Scholar 

  39. Fukuchi T, Sakamoto M, Tsuda H, Maruyama K, Nozawa S, Hirohashi S. Beta-catenin mutation in carcinoma of the uterine endometrium. Cancer Res. 1998;58(16):3526–3528.

    PubMed  CAS  Google Scholar 

  40. 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(14):3346–3351.

    PubMed  CAS  Google Scholar 

  41. Saegusa M, Hashimura M, Yoshida T, Okayasu I. Beta-catenin mutations and aberrant nuclear expression during endometrial tumorigenesis. Br J Cancer. 2001;84(2):209–217.

    Article  PubMed  CAS  Google Scholar 

  42. Sasaki H, Nishii H, Takahashi H, et al Mutation of the Ki-ras protooncogene in human endometrial hyperplasia and carcinoma. Cancer Res. 1993;53(8):1906–1910.

    PubMed  CAS  Google Scholar 

  43. Tsuda H, Jiko K, Yajima M, et al Frequent occurrence of c-Ki-ras gene mutations in well differentiated endometrial adenocarcinoma showing infiltrative local growth with fibrosing stromal response. Int J Gynecol Pathol. 1995;14(3):255–259.

    Article  PubMed  CAS  Google Scholar 

  44. Lagarda H, Catasus L, Arguelles R, Matias-Guiu X, Prat J. K-ras mutations in endometrial carcinomas with microsatellite instability. J Pathol. 2001;193(2):193–199.

    Article  PubMed  CAS  Google Scholar 

  45. Caduff RF, Johnston CM, Frank TS. Mutations of the Ki-ras oncogene in carcinoma of the endometrium. Am J Pathol. 1995;146(1):182–188.

    PubMed  CAS  Google Scholar 

  46. Ito K, Watanabe K, Nasim S, et al K-ras point mutations in endometrial carcinoma: effect on outcome is dependent on age of patient. Gynecol Oncol. 1996;63(2):238–246.

    Article  PubMed  CAS  Google Scholar 

  47. Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature. 2002;418(6901):934.

    Article  PubMed  CAS  Google Scholar 

  48. Feng YZ, Shiozawa T, Miyamoto T, et al. BRAF mutation in endometrial carcinoma and hyperplasia: correlation with KRAS and p53 mutations and mismatch repair protein expression. Clin Cancer Res. 2005;11(17):6133–6138.

    Article  PubMed  CAS  Google Scholar 

  49. Mutch DG, Powell MA, Mallon MA, Goodfellow PJ. RAS/RAF mutation and defective DNA mismatch repair in endometrial cancers. Am J Obstet Gynecol. 2004;190(4):935–942.

    Article  PubMed  CAS  Google Scholar 

  50. Salvesen HB, Kumar R, Stefansson I, et al Low frequency of BRAF and CDKN2A mutations in endometrial cancer. Int J Cancer. 2005;115(6):930–934.

    Article  PubMed  CAS  Google Scholar 

  51. Pappa KI, Choleza M, Markaki S, et al Consistent absence of BRAF mutations in cervical and endometrial cancer despite KRAS mutation status. Gynecol Oncol. 2006;100(3):596–600.

    Article  PubMed  CAS  Google Scholar 

  52. Risinger JI, Dent GA, Ignar-Trowbridge D, et al p53 gene mutations in human endometrial carcinoma. Mol Carcinog. 1992;5(4):250–253.

    Article  PubMed  CAS  Google Scholar 

  53. Enomoto T, Fujita M, Inoue M, et al Alterations of the p53 tumor suppressor gene and its association with activation of the c-K-ras-2 protooncogene in premalignant and malignant lesions of the human uterine endometrium. Cancer Res. 1993;53(8):1883–1888.

    PubMed  CAS  Google Scholar 

  54. Kihana T, Hamada K, Inoue Y, et al Mutation and allelic loss of the p53 gene in endometrial carcinoma. Incidence and outcome in 92 surgical patients. Cancer. 1995;76(1):72–78.

    Article  PubMed  CAS  Google Scholar 

  55. Swisher EM, Peiffer-Schneider S, Mutch DG, et al Differences in patterns of TP53 and KRAS2 mutations in a large series of endometrial carcinomas with or without microsatellite instability. Cancer. 1999;85(1):119–126.

    Article  PubMed  CAS  Google Scholar 

  56. Sakuragi N, Watari H, Ebina Y, et al Functional analysis of p53 gene and the prognostic impact of dominant-negative p53 mutation in endometrial cancer. Int J Cancer. 2005;116(4):514–519.

    Article  PubMed  CAS  Google Scholar 

  57. Tashiro H, Blazes MS, Wu R, et al Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies. Cancer Res. 1997;57(18):3935–3940.

    PubMed  CAS  Google Scholar 

  58. Kovalev S, Marchenko ND, Gugliotta BG, Chalas E, Chumas J, Moll UM. Loss of p53 function in uterine papillary serous carcinoma. Hum Pathol. 1998;29(6):613–619.

    Article  PubMed  CAS  Google Scholar 

  59. Darvishian F, Hummer AJ, Thaler HT, et al Serous endometrial cancers that mimic endometrioid adenocarcinomas: a clinicopathologic and immunohistochemical study of a group of problematic cases. Am J Surg Pathol. 2004;28(12):1568–1578.

    Article  PubMed  Google Scholar 

  60. Peiro G, Mayr D, Hillemanns P, Lohrs U, Diebold J. Analysis of HER-2/neu amplification in endometrial carcinoma by chromogenic in situ hybridization. Correlation with fluorescence in situ hybridization, HER-2/neu, p53 and Ki-67 protein expression, and outcome. Mod Pathol. 2004;17(3):227–287.

    Article  PubMed  CAS  Google Scholar 

  61. Slomovitz BM, Broaddus RR, Burke TW, et al Her-2/neu overexpression and amplification in uterine papillary serous carcinoma. J Clin Oncol. 2004;22(15):3126–3132.

    Article  PubMed  CAS  Google Scholar 

  62. Santin AD, Bellone S, Van Stedum S, et al Determination of HER2/neu status in uterine serous papillary carcinoma: comparative analysis of immunohistochemistry and fluorescence in situ hybridization. Gynecol Oncol. 2005;98(1):24–30.

    Article  PubMed  CAS  Google Scholar 

  63. Mitelman Database of Chromosome Aberrations in Cancer (2008). Mitelman F, Johansson B, and Mertens F (Eds.), http://cgap.nci.nih.gov/Chromosomes/Mitelman.

  64. Micci F, Teixeira MR, Haugom L, Kristensen G, Abeler VM, Heim S. Genomic aberrations in carcinomas of the uterine corpus. Genes Chromosomes Cancer. 2004;40(3):229–246.

    Article  PubMed  CAS  Google Scholar 

  65. Wada H, Enomoto T, Fujita M, et al Molecular evidence that most but not all carcinosarcomas of the uterus are combination tumors. Cancer Res. 1997;57(23):5379–5385.

    PubMed  CAS  Google Scholar 

  66. Fujii H, Yoshida M, Gong ZX, et al Frequent genetic heterogeneity in the clonal evolution of gynecological carcinosarcoma and its influence on phenotypic diversity. Cancer Res. 2000;60(1):114–120.

    PubMed  CAS  Google Scholar 

  67. Abeln EC, Smit VT, Wessels JW, de Leeuw WJ, Cornelisse CJ, Fleuren GJ. Molecular genetic evidence for the conversion hypothesis of the origin of malignant mixed mullerian tumours. J Pathol. 1997;183(4):424–431.

    Article  PubMed  CAS  Google Scholar 

  68. Soong R, Knowles S, Hammond IG, Michael C, Iacopetta BJ. p53 protein overexpression and gene mutation in mixed Mullerian tumors of the uterus. Cancer Detect Prev. 1999;23(1):8–12.

    Article  PubMed  CAS  Google Scholar 

  69. Lancaster JM, Risinger JI, Carney ME, Barrett JC, Berchuck A. Mutational analysis of the PTEN gene in human uterine sarcomas. Am J Obstet Gynecol. 2001;184(6):1051–1053.

    Article  PubMed  CAS  Google Scholar 

  70. Amant F, de la Rey M, Dorfling CM, et al PTEN mutations in uterine sarcomas. Gynecol Oncol. 2002;85(1):165–169.

    Article  PubMed  CAS  Google Scholar 

  71. Amant F, Vloeberghs V, Woestenborghs H, et al ERBB-2 gene overexpression and amplification in uterine sarcomas. Gynecol Oncol. 2004;95(3):583–587.

    Article  PubMed  CAS  Google Scholar 

  72. Livasy CA, Reading FC, Moore DT, Boggess JF, Lininger RA. EGFR expression and HER2/neu overexpression/amplification in endometrial carcinosarcoma. Gynecol Oncol. 2006;100(1):101–106.

    Article  PubMed  CAS  Google Scholar 

  73. de Vos S, Wilczynski SP, Fleischhacker M, Koeffler P. p53 alterations in uterine leiomyosarcomas versus leiomyomas. Gynecol Oncol. 1994;54(2):205–208.

    Article  PubMed  CAS  Google Scholar 

  74. Jeffers MD, Farquharson MA, Richmond JA, McNicol AM. p53 immunoreactivity and mutation of the p53 gene in smooth muscle tumours of the uterine corpus. J Pathol. 1995;177(1):65–70.

    Article  PubMed  CAS  Google Scholar 

  75. Teneriello MG, Taylor RR, et al Analysis of Ki-ras, p53, and MDM2 genes in uterine leiomyomas and leiomyosarcomas. Gynecol Oncol. 1997;65(2):330–335.

    Article  PubMed  Google Scholar 

  76. Quade BJ, Pinto AP, Howard DR, Peters WA, 3rd, Crum CP. Frequent loss of heterozygosity for chromosome 10 in uterine leiomyosarcoma in contrast to leiomyoma. Am J Pathol. 1999;154(3):945–950.

    Article  PubMed  CAS  Google Scholar 

  77. Levy B, Mukherjee T, Hirschhorn K. Molecular cytogenetic analysis of uterine leiomyoma and leiomyosarcoma by comparative genomic hybridization. Cancer Genet Cytogenet. 2000;121(1):1–8.

    Article  PubMed  CAS  Google Scholar 

  78. Quade BJ, Wang TY, Sornberger K, Dal Cin P, Mutter GL, Morton CC. Molecular pathogenesis of uterine smooth muscle tumors from transcriptional profiling. Genes Chromosomes Cancer. 2004;40(2):97–108.

    Article  PubMed  CAS  Google Scholar 

  79. Christacos NC, Quade BJ, Dal Cin P, Morton CC. Uterine leiomyomata with deletions of Ip represent a distinct cytogenetic subgroup associated with unusual histologic features. Genes Chromosomes Cancer. 2006;45(3):304–312.

    Article  PubMed  CAS  Google Scholar 

  80. Dal Cin P, Quade BJ, Neskey DM, Kleinman MS, Weremowicz S, Morton CC. Intravenous leiomyomatosis is characterized by a der(14)t(12;14)(q15;q24). Genes Chromosomes Cancer. 2003;36(2):205–206.

    Article  PubMed  Google Scholar 

  81. Patton KT, Cheng L, Papavero V, et al Benign metastasizing leiomyoma: clonality, telomere length and clinicopathologic analysis. Mod Pathol. 2006;19(1):130–140.

    Article  PubMed  CAS  Google Scholar 

  82. Quade BJ, McLachlin CM, Soto-Wright V, Zuckerman J, Mutter GL, Morton CC. Disseminated peritoneal leiomyomatosis. Clonality analysis by X chromosome inactivation and cytogenetics of a clinically benign smooth muscle proliferation. Am J Pathol. 1997;150(6):2153–2166.

    PubMed  CAS  Google Scholar 

  83. Ng TL, Gown AM, Barry TS, et al Nuclear beta-catenin in mesenchymal tumors. Mod Pathol. 2005;18(1):68–74.

    Article  PubMed  CAS  Google Scholar 

  84. Hrzenjak A, Tippl M, Kremser ML, et al Inverse correlation of secreted frizzled-related protein 4 and beta-catenin expression in endometrial stromal sarcomas. J Pathol. 2004;204(1):19–27.

    Article  PubMed  CAS  Google Scholar 

  85. Micci F, Walter CU, Teixeira MR, et al Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17). Cancer Genet Cytogenet. 2003;144(2):119–124.

    Article  PubMed  CAS  Google Scholar 

  86. Koontz JI, Soreng AL, Nucci M, et al Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. Proc Natl Acad Sci U S A. 2001;98(11):6348–6353.

    Article  PubMed  CAS  Google Scholar 

  87. Huang HY, Ladanyi M, Soslow RA. Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity. Am J Surg Pathol. 2004;28(2):224–232.

    Article  PubMed  Google Scholar 

  88. Hrzenjak A, Moinfar F, Tavassoli FA, et al JAZF1/JJAZ1 gene fusion in endometrial stromal sarcomas: molecular analysis by reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded tissue. J Mol Diagn. 2005;7(3):388–395.

    Article  PubMed  CAS  Google Scholar 

  89. Micci F, Panagopoulos I, Bjerkehagen B, Heim S. Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma. Cancer Res. 2006;66(1):107–112.

    Article  PubMed  CAS  Google Scholar 

  90. Nucci MR, Harburger D, Koontz J, Cin PD. Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms. Am J Surg Pathol. 2007;31:65–70.

    Article  PubMed  Google Scholar 

  91. Oliva E, de Leval L, Soslow RA, Herens C. High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection. Am J Surg Pathol. 2007; 31(8):1277–1284.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Paola Dal Cin .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Humana Press, a part of Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Palacios, J., Cin, P.D. (2009). Molecular Pathology and Cytogenetics of Endometrial Carcinoma, Carcinosarcoma, and Uterine Sarcomas. In: Oliva, E., Muggia, F. (eds) Uterine Cancer. Current Clinical Oncology. Humana Press. https://doi.org/10.1007/978-1-60327-044-1_5

Download citation

  • DOI: https://doi.org/10.1007/978-1-60327-044-1_5

  • Published:

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-736-5

  • Online ISBN: 978-1-60327-044-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics