{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T03:33:31Z","timestamp":1765596811473,"version":"3.48.0"},"reference-count":20,"publisher":"BMJ","issue":"4","funder":[{"DOI":"10.13039\/501100011733","name":"Liga Portuguesa Contra o Cancro","doi-asserted-by":"publisher","award":["Dr. Rocha Alves 2019 - HCC DRAMA"],"award-info":[{"award-number":["Dr. Rocha Alves 2019 - HCC DRAMA"]}],"id":[{"id":"10.13039\/501100011733","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011733","name":"Liga Portuguesa Contra o Cancro","doi-asserted-by":"publisher","award":["Oncology research grant NRC-LPCC\/CIMAGO"],"award-info":[{"award-number":["Oncology research grant NRC-LPCC\/CIMAGO"]}],"id":[{"id":"10.13039\/501100011733","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2021,2,1]]},"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Cholangiocarcinoma (CC) is a rare tumour arising from the biliary tract epithelium. The aim of this study was to perform a genomic characterisation of CC tumours and to implement a model to differentiate extrahepatic (ECC) and intrahepatic (ICC) cholangiocarcinoma.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>DNA extracted from tumour samples of 23 patients with CC, namely 10 patients with ECC and 13 patients with ICC, was analysed by array comparative genomic hybridisation. A support vector machine algorithm for classification was applied to the genomic data to distinguish between ICC and ECC. A survival analysis comparing both groups of patients was also performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>With these whole genome results, we observed several common alterations between tumour samples of the same CC anatomical type, namely gain of Xp and loss of 3p, 11q11, 14q, 16q, Yp and Yq in ICC tumours, and gain of 16p25.3 and loss of 3q26.1, 6p25.3\u201322.3, 12p13.31, 17p, 18q and Yp in ECC tumours. Gain of 2q37.3 was observed in the samples of both tumour subtypes, ICC and ECC. The developed genomic model comprised four chromosomal regions that seem to enable the distinction between ICC and ECC, with an accuracy of 71.43% (95% CI 43% to 100%). Survival analysis revealed that in our cohort, patients with ECC survived on average 8 months less than patients with ICC.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This genomic characterisation and the introduction of genomic models to clinical practice could be important for patient management and for the development of targeted therapies. The power of this genomic model should be evaluated in other CC populations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2020-207346","type":"journal-article","created":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T13:20:34Z","timestamp":1614604834000},"page":"274-278","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Development of a genomic predictive model for cholangiocarcinoma using copy number alteration data"],"prefix":"10.1136","volume":"75","author":[{"given":"In\u00eas","family":"Tavares","sequence":"first","affiliation":[{"name":"University of Coimbra, Cytogenetics and Genomics Laboratory, Institute of Cellular and Molecular Biology, Faculty of Medicine, Coimbra, Portugal"}]},{"given":"Ricardo","family":"Martins","sequence":"additional","affiliation":[{"name":"University of Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR) and Center of Investigation on 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and Oncobiology (CIMAGO), Faculty of Medicine, Coimbra, Portugal"},{"name":"University of Coimbra, Institute of Biophysics, Faculty of Medicine, Coimbra, Portugal"},{"name":"Clinical Academic Center of Coimbra, CACC, Coimbra, Portugal"},{"name":"University of Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal"}]},{"given":"Joana","family":"Barbosa de Melo","sequence":"additional","affiliation":[{"name":"University of Coimbra, Cytogenetics and Genomics Laboratory, Institute of Cellular and Molecular Biology, Faculty of Medicine, Coimbra, Portugal"},{"name":"University of Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR) and Center of Investigation on Environment Genetics and Oncobiology (CIMAGO), Faculty of Medicine, Coimbra, Portugal"},{"name":"Clinical Academic Center of Coimbra, CACC, Coimbra, Portugal"},{"name":"University of Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, 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