{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:45:47Z","timestamp":1787013947181,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,8,29]],"date-time":"2021-08-29T00:00:00Z","timestamp":1630195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008364","name":"Stiftelsen Johanna Hagstrand och Sigfrid Linn\u00e9rs Minne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008364","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bjui-journals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BJU International"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To investigate gene alterations as diagnostic and prognostic markers in upper tract urothelial carcinoma (UTUC).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and Methods<\/jats:title>\n                    <jats:p>Patients with UTUC who underwent nephroureterectomy between 2005 and 2012 were followed until November 2020. DNA was extracted from paraffin\u2010embedded tumour tissue. Next\u2010generation sequencing using a 388\u2010gene panel was performed. First a blinded analysis using principal component analysis and hierarchical clustering was used to search for patterns of mutations. Then a comparative analysis using analysis of variance (ANOVA) was used to search for mutations enriched in groups of various grades, stages, and survival. In addition, careful manual annotation was used to identify pathogenic mutations over\u2010represented in tumours of high grade\/stage and\/or poor survival.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 39 patients were included. All tumour stages and grades were represented in the cohort. The median follow\u2010up was 10.6\u2009years. In all, 11 patients died from UTUC during the follow\u2010up. Tumour mutational burden showed a statistically significant correlation with stage, grade, and stage + grade. Grade 1, Grade 2, and Grade 3 tumours had different mutational patterns. Patients who died from UTUC had pathogenic mutations in specific genes e.g. tumour protein p53 (\n                      <jats:italic>TP53<\/jats:italic>\n                      ) and HRas proto\u2010oncogene, GTPase (\n                      <jats:italic>HRAS<\/jats:italic>\n                      ). Patients with Ta Grade 1 tumours with a known pathogenic fibroblast growth factor receptor 3 (\n                      <jats:italic>FGFR3<\/jats:italic>\n                      ) mutation did not die from UTUC.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The genetic analysis was highly concordant with histopathological features and added prognostic information in some cases. Thus, results from genomic profiling may contribute to the choice of treatment and follow\u2010up regimens in the future.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/bju.15566","type":"journal-article","created":{"date-parts":[[2021,8,10]],"date-time":"2021-08-10T15:01:21Z","timestamp":1628607681000},"page":"92-101","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genomic profile \u2013 a possible diagnostic and prognostic marker in upper tract urothelial carcinoma"],"prefix":"10.1111","volume":"130","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8048-9058","authenticated-orcid":false,"given":"Alexandra","family":"Grahn","sequence":"first","affiliation":[{"name":"Department of Oncology and Pathology Karolinska Institutet  Stockholm Sweden"},{"name":"Department of Urology Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesper","family":"Eisfeldt","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Karolinska University Hospital  Stockholm Sweden"},{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"},{"name":"Center for Molecular Medicine Karolinska Institutet  Stockholm Sweden"},{"name":"Science for Life Laboratory Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Malm","sequence":"additional","affiliation":[{"name":"Department of Oncology and Pathology Karolinska Institutet  Stockholm Sweden"},{"name":"Department of Urology Stockholm South General Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Foroughi Asl","sequence":"additional","affiliation":[{"name":"Genomic Medicine Center Karolinska University Hospital  Stockholm Sweden"},{"name":"Clinical Genomics Facility Department of Microbiology, Tumour and Cell Biology Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Jaremko","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cancer Diagnostics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Tham","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Karolinska University Hospital  Stockholm Sweden"},{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Brehmer","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences Karolinska Institutet  Stockholm Sweden"},{"name":"Division of Urology Danderyd Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,8,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2020.05.042"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2016.07.014"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.urology.2005.03.011"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2017.07.088"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00345-019-02760-4"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00345-019-02739-1"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdy275"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2016.01.006"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.euf.2018.01.005"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2020.05.039"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-020-02230-w"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/bju.13652"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/21681805.2017.1295102"},{"key":"e_1_2_9_15_1","unstructured":"ForoughiAH. 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