{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T22:26:30Z","timestamp":1769639190715,"version":"3.49.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T00:00:00Z","timestamp":1762819200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T00:00:00Z","timestamp":1762819200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100022084","name":"Peter MacCallum Foundation","doi-asserted-by":"publisher","award":["2019 Foundation Grant #1937"],"award-info":[{"award-number":["2019 Foundation Grant #1937"]}],"id":[{"id":"10.13039\/501100022084","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Diagn Ther"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1007\/s40291-025-00820-7","type":"journal-article","created":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:19:00Z","timestamp":1762867140000},"page":"137-148","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Utility of an RNA-based Gene Fusion Assay in Sarcoma for Diagnosis and Management: Experience in an Australian Laboratory"],"prefix":"10.1007","volume":"30","author":[{"given":"Adel","family":"Shahnam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5596-9511","authenticated-orcid":false,"given":"Catherine","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher R.","family":"McEvoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Owen W. J.","family":"Prall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiling","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew P.","family":"Fellowes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David Y.","family":"Choong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher M.","family":"Angel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Khoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia-Min","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cameron","family":"Snell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Van Vliet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen J.","family":"Luen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susie","family":"Bae","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Hamilton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jayesh","family":"Desai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen B.","family":"Fox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy","family":"Lewin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,11,11]]},"reference":[{"key":"820_CR1","volume-title":"Soft tissue and bone tumours WHO classification of tumours","author":"WHO Classification of Tumours Editorial Boar","year":"2020","unstructured":"WHO Classification of Tumours Editorial Boar. Soft tissue and bone tumours WHO classification of tumours, vol. 3. 5th ed. Lyon: International Agency for Research on Cancer; 2020.","edition":"5"},{"key":"820_CR2","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/9810170","volume":"2020","author":"A Rupani","year":"2020","unstructured":"Rupani A, Hallin M, Jones RL, Fisher C, Thway K. Diagnostic differences in expert second-opinion consultation cases at a tertiary sarcoma center. Sarcoma. 2020;2020:9810170. https:\/\/doi.org\/10.1155\/2020\/9810170.","journal-title":"Sarcoma"},{"key":"820_CR3","doi-asserted-by":"publisher","first-page":"5934","DOI":"10.3390\/ijms24065934","volume":"24","author":"JH Choi","year":"2023","unstructured":"Choi JH, Ro JY. The recent advances in molecular diagnosis of soft tissue tumors. IJMS. 2023;24:5934. https:\/\/doi.org\/10.3390\/ijms24065934.","journal-title":"IJMS"},{"key":"820_CR4","doi-asserted-by":"publisher","first-page":"70","DOI":"10.32074\/1591-951X-213","volume":"113","author":"M Sbaraglia","year":"2021","unstructured":"Sbaraglia M, Bellan E, Dei Tos AP. The 2020 WHO classification of soft tissue tumours: news and perspectives. Pathologica. 2021;113:70\u201384. https:\/\/doi.org\/10.32074\/1591-951X-213.","journal-title":"Pathologica"},{"key":"820_CR5","doi-asserted-by":"publisher","first-page":"1259","DOI":"10.1097\/PAS.0b013e31828f51b9","volume":"37","author":"A Neuville","year":"2013","unstructured":"Neuville A, Ranch\u00e8re-Vince D, Dei Tos AP, Cristina Montesco M, Hostein I, Toffolatti L, et al. Impact of molecular analysis on the final sarcoma diagnosis: a study on 763 cases collected during a European epidemiological study. Am J Surg Pathol. 2013;37:1259\u201368. https:\/\/doi.org\/10.1097\/PAS.0b013e31828f51b9.","journal-title":"Am J Surg Pathol"},{"key":"820_CR6","doi-asserted-by":"publisher","first-page":"1355","DOI":"10.3390\/cancers16071355","volume":"16","author":"M Wachtel","year":"2024","unstructured":"Wachtel M, Surdez D, Gr\u00fcnewald TGP, Sch\u00e4fer BW. Functional classification of fusion proteins in sarcoma. Cancers (Basel). 2024;16:1355. https:\/\/doi.org\/10.3390\/cancers16071355.","journal-title":"Cancers (Basel)"},{"key":"820_CR7","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.humpath.2023.12.002","volume":"147","author":"C Wakefield","year":"2024","unstructured":"Wakefield C, Hornick JL. Update on immunohistochemistry in bone and soft tissue tumors: cost-effectively replacing molecular testing with immunohistochemistry. Hum Pathol. 2024;147:58\u201371. https:\/\/doi.org\/10.1016\/j.humpath.2023.12.002.","journal-title":"Hum Pathol"},{"key":"820_CR8","unstructured":"Soft Tissue Sarcoma. NCCN n.d. https:\/\/www.nccn.org\/guidelines\/guidelines-detail?category=1&id=1464. Accessed 16 June 2025."},{"key":"820_CR9","doi-asserted-by":"publisher","DOI":"10.1016\/j.esmoop.2024.103726","volume":"9","author":"K Kawaguchi","year":"2024","unstructured":"Kawaguchi K, Endo M, Shimada E, Kohashi K, Hirose T, Nabeshima A, et al. Translocation in bone and soft tissue sarcomas: a comprehensive epidemiological investigation. ESMO Open. 2024;9:103726. https:\/\/doi.org\/10.1016\/j.esmoop.2024.103726.","journal-title":"ESMO Open"},{"key":"820_CR10","doi-asserted-by":"publisher","first-page":"1749","DOI":"10.1016\/j.jmoldx.2021.08.009","volume":"23","author":"L Sun","year":"2021","unstructured":"Sun L, McNulty SN, Evenson MJ, Zhu X, Robinson JA, Mann PR, et al. Clinical implications of a targeted RNA-sequencing panel in the detection of gene fusions in solid tumors. J Mol Diagn. 2021;23:1749\u201360. https:\/\/doi.org\/10.1016\/j.jmoldx.2021.08.009.","journal-title":"J Mol Diagn"},{"key":"820_CR11","doi-asserted-by":"publisher","first-page":"1843","DOI":"10.1111\/cas.15317","volume":"113","author":"W Hu","year":"2022","unstructured":"Hu W, Yuan L, Zhang X, Ni Y, Hong D, Wang Z, et al. Development and validation of an RNA sequencing panel for gene fusions in soft tissue sarcoma. Cancer Sci. 2022;113:1843\u201354. https:\/\/doi.org\/10.1111\/cas.15317.","journal-title":"Cancer Sci"},{"key":"820_CR12","doi-asserted-by":"publisher","DOI":"10.1002\/2056-4538.12376","volume":"10","author":"R ZagoBaltazar","year":"2024","unstructured":"ZagoBaltazar R, Claerhout S, Vander Borght S, Spans L, Sciot R, Sch\u00f6ffski P, et al. Recurrent and novel fusions detected by targeted RNA sequencing as part of the diagnostic workflow of soft tissue and bone tumours. J Pathol CR. 2024;10:e12376. https:\/\/doi.org\/10.1002\/2056-4538.12376.","journal-title":"J Pathol CR"},{"key":"820_CR13","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.jmoldx.2024.10.004","volume":"27","author":"MA Atiq","year":"2025","unstructured":"Atiq MA, Balan J, Blackburn PR, Gross JM, Voss JS, Jin L, et al. SARCP, a clinical next-generation sequencing assay for the detection of gene fusions in sarcomas: a description of the first 652 cases. J Mol Diagn. 2025;27:74\u201395. https:\/\/doi.org\/10.1016\/j.jmoldx.2024.10.004.","journal-title":"J Mol Diagn"},{"key":"820_CR14","doi-asserted-by":"publisher","DOI":"10.1016\/j.pathol.2024.12.638","author":"CR McEvoy","year":"2025","unstructured":"McEvoy CR, Mitchell C, Prall OWJ, Xu H, Fellowes AP, Choong DY, et al. The implementation of an RNA-based gene fusion assay into a diagnostic oncology department: an Australian perspective. Pathology. 2025. https:\/\/doi.org\/10.1016\/j.pathol.2024.12.638.","journal-title":"Pathology"},{"key":"820_CR15","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1093\/ajcp\/aqad148","volume":"161","author":"F Fei","year":"2024","unstructured":"Fei F, Kunder CA, Ho C, Zehnder JL, Tomasello G, Fung E, et al. Diagnostic impact of RNA-based next-generation sequencing fusion panel for solid tumors: a single-institution experience. Am J Clin Pathol. 2024;161:329\u201341. https:\/\/doi.org\/10.1093\/ajcp\/aqad148.","journal-title":"Am J Clin Pathol"},{"key":"820_CR16","doi-asserted-by":"publisher","first-page":"2307","DOI":"10.1038\/s41379-020-0582-4","volume":"33","author":"LR Massoth","year":"2020","unstructured":"Massoth LR, Hung YP, Nardi V, Nielsen GP, Hasserjian RP, Louissaint A, et al. Pan-sarcoma genomic analysis of KMT2A rearrangements reveals distinct subtypes defined by YAP1-KMT2A-YAP1 and VIM-KMT2A fusions. Mod Pathol. 2020;33:2307\u201317. https:\/\/doi.org\/10.1038\/s41379-020-0582-4.","journal-title":"Mod Pathol"},{"key":"820_CR17","doi-asserted-by":"publisher","first-page":"6456","DOI":"10.1158\/1538-7445.AM2024-6456","volume":"84","author":"E Nakada","year":"2024","unstructured":"Nakada E, Fujiwara T, Kunisada T, Takihira S, Ennishi D, Yamamoto H, et al. Abstract 6456: the utility of clinical sequencing in the diagnosis and treatment of soft tissue sarcomas; real world data based on nation-wide database. Cancer Res. 2024;84:6456\u20136456. https:\/\/doi.org\/10.1158\/1538-7445.AM2024-6456.","journal-title":"Cancer Res"},{"key":"820_CR18","doi-asserted-by":"publisher","first-page":"2647","DOI":"10.1158\/1078-0432.CCR-24-0384","volume":"30","author":"I \u00d6fverholm","year":"2024","unstructured":"\u00d6fverholm I, Wallander K, Haglund C, Chellappa V, Wejde J, Gellerbring A, et al. Comprehensive genomic profiling alters clinical diagnoses in a significant fraction of tumors suspicious of sarcoma. Clin Cancer Res. 2024;30:2647\u201358. https:\/\/doi.org\/10.1158\/1078-0432.CCR-24-0384.","journal-title":"Clin Cancer Res"},{"key":"820_CR19","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1080\/0284186X.2021.1992009","volume":"61","author":"CA Gusho","year":"2022","unstructured":"Gusho CA, Weiss MC, Lee L, Gitelis S, Blank AT, Wang D, et al. The clinical utility of next-generation sequencing for bone and soft tissue sarcoma. Acta Oncol. 2022;61:38\u201344. https:\/\/doi.org\/10.1080\/0284186X.2021.1992009.","journal-title":"Acta Oncol"},{"key":"820_CR20","doi-asserted-by":"publisher","first-page":"2314","DOI":"10.3390\/cancers16132314","volume":"16","author":"S Kokkali","year":"2024","unstructured":"Kokkali S, Boukovinas I, De Bree ED, Koumarianou A, Georgoulias V, Kyriazoglou A, et al. The impact of expert pathology review and molecular diagnostics on the management of sarcoma patients: a prospective study of the Hellenic Group of Sarcomas and Rare Cancers. Cancers (Basel). 2024;16:2314. https:\/\/doi.org\/10.3390\/cancers16132314.","journal-title":"Cancers (Basel)"},{"key":"820_CR21","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1111\/his.13252","volume":"71","author":"A Yoshida","year":"2017","unstructured":"Yoshida A, Arai Y, Kobayashi E, Yonemori K, Ogura K, Hama N, et al. CIC break-apart fluorescence in-situ hybridization misses a subset of CIC-DUX4 sarcomas: a clinicopathological and molecular study. Histopathology. 2017;71:461\u20139. https:\/\/doi.org\/10.1111\/his.13252.","journal-title":"Histopathology"},{"key":"820_CR22","doi-asserted-by":"publisher","first-page":"1000","DOI":"10.1111\/his.13031","volume":"69","author":"AC Vargas","year":"2016","unstructured":"Vargas AC, Selinger CI, Satgunaseelan L, Cooper WA, Gupta R, Stalley P, et al. Atypical Ewing sarcoma breakpoint region 1 fluorescence in-situ hybridization signal patterns in bone and soft tissue tumours: diagnostic experience with 135 cases. Histopathology. 2016;69:1000\u201311. https:\/\/doi.org\/10.1111\/his.13031.","journal-title":"Histopathology"},{"key":"820_CR23","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1111\/his.14454","volume":"79","author":"JK Dermawan","year":"2021","unstructured":"Dermawan JK, Azzato EM, Jebastin Thangaiah J, Gjorgova-Gjeorgievski S, Rubin BP, Folpe AL, et al. PRRX1-NCOA1-rearranged fibroblastic tumour: a clinicopathological, immunohistochemical and molecular genetic study of six cases of a potentially under-recognised, distinctive mesenchymal tumour. Histopathology. 2021;79:997\u20131003. https:\/\/doi.org\/10.1111\/his.14454.","journal-title":"Histopathology"},{"issue":"1","key":"820_CR24","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1038\/s41467-020-20603-4","volume":"12","author":"C Koelsche","year":"2021","unstructured":"Koelsche C, Schrimpf D, Stichel D, Sill M, Sahm F, Reuss DE, et al. Sarcoma classification by DNA methylation profiling. Nat Commun. 2021;12(1):498. https:\/\/doi.org\/10.1038\/s41467-020-20603-4.","journal-title":"Nat Commun"},{"issue":"5","key":"820_CR25","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1016\/j.jmoldx.2024.02.003","volume":"26","author":"J Baelen","year":"2024","unstructured":"Baelen J, Dewaele B, Debiec-Rychter M, Sciot R, Sch\u00f6ffski P, Hompes D, et al. Optical genome mapping for comprehensive cytogenetic analysis of soft-tissue and bone tunors for diagnostic purposes. J Mol Diagn. 2024;26(5):274\u201386. https:\/\/doi.org\/10.1016\/j.jmoldx.2024.02.003.","journal-title":"J Mol Diagn"},{"issue":"5","key":"820_CR26","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1038\/s41416-024-02721-8","volume":"131","author":"JA Watkins","year":"2024","unstructured":"Watkins JA, Trotman J, Tadross JA, Harrington J, Hatcher H, Horan G, et al. Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcoma. Br J Cancer. 2024;131(5):860\u20139. https:\/\/doi.org\/10.1038\/s41416-024-02721-8.","journal-title":"Br J Cancer"}],"container-title":["Molecular Diagnosis &amp; Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40291-025-00820-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s40291-025-00820-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40291-025-00820-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T06:52:30Z","timestamp":1769496750000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s40291-025-00820-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,11]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["820"],"URL":"https:\/\/doi.org\/10.1007\/s40291-025-00820-7","relation":{},"ISSN":["1177-1062","1179-2000"],"issn-type":[{"value":"1177-1062","type":"print"},{"value":"1179-2000","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,11]]},"assertion":[{"value":"28 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 October 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors (AS, CM, CRM, OP, HX, APF, DYC, CMA, CK, JP, CS, CVV, SL, SB, AH, JD, SBF, JL) have nothing to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study was approved by the Peter MacCallum Cancer Centre Ethics Committee, QA\/94444\/PMCC.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Waiver of consent for retrospective data capture that was ethics approved.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The data supporting the findings of this study are available from the corresponding author, upon reasonable request.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Availability of data and material"}},{"value":"Not applicable.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Code availability"}},{"value":"Conceptualisation: AS, JL, CM. Methodology and software: AS, CM, JL, CRM, OP, HX, APF, DYC, CMA, CK, JP, CS, CVV, SBF, JL. Validation: AS, CM, JL, CRM, OP, HX, APF, DYC, CMA, CK, JP, CS, CVV, SBF, JL. Writing\u2014original draft preparation: AS, CM. Writing\u2014review and editing visualisation: all authors. Supervision: CM, JL. All authors have read and agreed to the published version of the article.","order":7,"name":"Ethics","group":{"name":"EthicsHeading","label":"Author contributions"}}]}}