Genetic analysis of uterine aspirates improves the diagnostic value and captures the intra-tumor heterogeneity of endometrial cancers
Autor: | Alejandro Rojo-Sebastian, Sonia Gatius, Xavier Matias-Guiu, Luis Chiva, Jaume Reventós, Eva Colás, Antonio Gil-Moreno, Irene Campoy, Marcin Bobiński, Ángel García, August Vidal, Rafael López-López, Patrycja Ziober-Malinowska, Miguel Abal, Alba Mota, Berta Díaz-Feijoo, Pablo Garcia-Sanz, Xavier Gonzalez-Tallada, Sonsoles Alonso, Gema Moreno-Bueno |
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Rok vydání: | 2017 |
Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty medicine.medical_treatment Atypical hyperplasia Pathology and Forensic Medicine Surgical pathology 03 medical and health sciences 0302 clinical medicine Carcinosarcoma medicine Carcinoma Humans Aged Aged 80 and over Hysterectomy business.industry Genetic heterogeneity Endometrial cancer Uterus Cancer Middle Aged medicine.disease Endometrial Neoplasms 030104 developmental biology Cytopathology 030220 oncology & carcinogenesis Mutation Female business Carcinoma Endometrioid |
Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
ISSN: | 1530-0285 0893-3952 |
Popis: | Endometrial cancer is the most common cancer of the female genital tract in developed countries. Although the majority of endometrial cancers are diagnosed at early stages and the 5-year overall survival is around 80%, early detection of these tumors is crucial to improve the survival of patients given that the advanced tumors are associated with a poor outcome. Furthermore, correct assessment of the pre-clinical diagnosis is decisive to guide the surgical treatment and management of the patient. In this sense, the potential of targeted genetic sequencing of uterine aspirates has been assessed as a pre-operative tool to obtain reliable information regarding the mutational profile of a given tumor, even in samples that are not histologically classifiable. A total of 83 paired samples were sequenced (uterine aspirates and hysterectomy specimens), including 62 endometrioid and non-endometrioid tumors, 10 cases of atypical hyperplasia and 11 non-cancerous endometrial disorders. Even though diagnosing endometrial cancer based exclusively on genetic alterations is currently unfeasible, mutations were mainly found in uterine aspirates from malignant disorders, suggesting its potential in the near future for supporting the standard histologic diagnosis. Moreover, this approach provides the first evidence of the high intra-tumor genetic heterogeneity associated with endometrial cancer, evident when multiple regions of tumors are analyzed from an individual hysterectomy. Notably, the genetic analysis of uterine aspirates captures this heterogeneity, solving the potential problem of incomplete genetic characterization when a single tumor biopsy is analyzed. |
Databáze: | OpenAIRE |
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