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

  • Chapter
Uterine Cancer

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

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Abstract

Molecular pathology and genetics are the subjects 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 cancers of breast and prostate. Most hormone dependent EC are EEC, which from a molecular point of view can be classified into different subgroups: (a) ultramutated, due to POLE mutations; (b) hypermutated tumors with MSI, most frequently due to MLH1 promoter, but also seen in Lynch syndrome; and (c) MSS EC with low mutation rate, the most frequent subgroup of EEC. Hormone-independent tumors are represented by serous carcinomas, characterized by a high rate of mutations in p53 that produce genomic instability with extensive somatic copy number alterations. 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.

The original version of this chapter was revised. An erratum to this chapter can be found at DOI 10.1007/7631_2018_3

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Authors and Affiliations

  1. Servicio de Anatomía Patológica, Hospital Universitario Ramón y Cajal, Carretera de Colmenar, Km 9.100, Madrid, 28034, Spain

    Jose Palacios

  2. Department of Pathology, CAMD, Brigham and Women’s Hospital, 25 Francis St., Shapiro, 5-058, Boston, MA, 02115, USA

    Paola Dal Cin

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  1. Jose Palacios
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  2. Paola Dal Cin
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Correspondence to Paola Dal Cin .

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Editors and Affiliations

  1. NYU Langone Medical Center, New York, NY, USA

    Franco Muggia

  2. Division of Gynecologic Oncology, Yale University, Yale School of Medicine, New Haven, CT, USA

    Alessandro D. Santin

  3. Department of Pathology, Massachusetts General Hospital, Boston, MA, USA

    Esther Oliva (Professor of Pathology) (Professor of Pathology)

  4. Harvard Medical School, Boston, MA, USA

    Esther Oliva (Professor of Pathology) (Professor of Pathology)

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Palacios, J., Dal Cin, P. (2015). Molecular Pathology and Cytogenetics of Endometrial Carcinoma, Carcinosarcoma, and Uterine Sarcomas. In: Muggia, F., Santin, A.D., Oliva, E. (eds) Uterine Cancer. Current Clinical Oncology. Springer, Cham. https://doi.org/10.1007/7631_2015_6

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  • DOI: https://doi.org/10.1007/7631_2015_6

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-47267-6

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