{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:11:44Z","timestamp":1787019104667,"version":"build-2736575974"},"reference-count":57,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T00:00:00Z","timestamp":1757376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T00:00:00Z","timestamp":1757376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood. For stratification purposes, rhabdomyosarcoma is classified into fusion-positive RMS (alveolar rhabdomyosarcoma) and fusion-negative RMS (embryonal or spindle cell\/sclerosing, FN-RMS) subtypes according to its\n                      <jats:italic toggle=\"yes\">PAX::FOXO1<\/jats:italic>\n                      fusion status. This study aims to highlight the pathologic and molecular characteristics of a cohort of FN-RMS using a targeted NGS RNA-Seq assay.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Twelve tumors were analyzed through targeted RNA-Seq using the Trusight Pancancer panel from Illumina. Molecular alterations were then correlated with the clinicopathological features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Of the 12 tumors analyzed, we identified 6 embryonal rhabdomyosarcomas (ERMSs) harboring mutations in key signaling molecules (\n                      <jats:italic toggle=\"yes\">KRAS, HRAS, NRAS<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">FGFR4<\/jats:italic>\n                      ), oncogenic\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      mutations in 2 ERMS, pathogenic\n                      <jats:italic toggle=\"yes\">TP53<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">NF1<\/jats:italic>\n                      mutations in an ERMS with features of anaplasia, a\n                      <jats:italic toggle=\"yes\">TEAD1::NCOA2<\/jats:italic>\n                      gene fusion in a congenital spindle cell and sclerosing rhabdomyosarcoma (SSRMS), and a\n                      <jats:italic toggle=\"yes\">FUS::TFCP2<\/jats:italic>\n                      gene fusion in a skull base SSRMS. Only 1 ERMS in the bladder showed no reportable molecular alterations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>We illustrate case examples demonstrating how a combined morphological and molecular approach with targeted RNA-Seq can aid in diagnosis and identify clinically actionable alterations in pediatric FN-RMS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10935266251370493","type":"journal-article","created":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T10:54:42Z","timestamp":1757415282000},"page":"480-488","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Fusion-Negative Rhabdomyosarcoma: Clinical Application of Targeted RNA Sequencing"],"prefix":"10.1177","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-5338-8693","authenticated-orcid":false,"given":"Aida","family":"Glembocki","sequence":"first","affiliation":[{"name":"The Hospital for Sick Children, Division of Pathology, Toronto, Canada"},{"name":"Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2013-9467","authenticated-orcid":false,"given":"Robert","family":"Siddaway","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Division of Pathology, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0687-3040","authenticated-orcid":false,"given":"Anthony","family":"Arnoldo","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Division of Pathology, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3830-7959","authenticated-orcid":false,"given":"Gino R.","family":"Somers","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Division of Pathology, Toronto, Canada"},{"name":"University of Toronto, Department of Laboratory Medicine and Pathobiology, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,9,9]]},"reference":[{"key":"e_1_3_2_2_2","volume-title":"Soft Tissue and Bone Tumours","author":"WHO Classification of Tumours Editorial Board","year":"2020","unstructured":"WHO Classification of Tumours Editorial Board. Soft Tissue and Bone Tumours. WHO classification of tumours series, 5th ed.; vol. 3. International Agency for Research on Cancer; 2020.","edition":"5"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12101500"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/his.14449"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-018-0051-2"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1309\/AJCPA1WN7ARPCMKQ"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.23929"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pathol.2023.11.007"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1615\/CritRevOncog.2015013800"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.20.03060"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.28507"},{"key":"e_1_3_2_12_2","unstructured":"WHO Classification of Tumors Editorial Board. WHO Classification of Tumors Editorial Board. International Agency for Research on Cancer. Paediatric Tumors. 2022. https:\/\/tumourclassification.iarc.who.int\/chapters\/44"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-018-0120-9"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2022.03.022"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts635"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41592-018-0051-x"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.9.8.677"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41568-018-0060-1"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.10.002"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2023.09.002"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btab249"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.26386"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/cam4.2504"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2005.05.3801"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41420-022-00959-w"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/406239"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2017.00327"},{"key":"e_1_3_2_30_2","first-page":"115","article-title":"Rhabdomyosarcoma in adolescent and young adult patients: current perspectives","volume":"5","author":"Egas-Bejar D","year":"2014","unstructured":"Egas-Bejar D, Huh WW. Rhabdomyosarcoma in adolescent and young adult patients: current perspectives. Adolesc Health Med Ther. 2014;5:115-125.","journal-title":"Adolesc Health Med Ther"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2017-0134-RA"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-19-0225"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12253-019-00685-2"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2018.03.050"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-023-37438-4"},{"key":"e_1_3_2_36_2","article-title":"Clinical utility of targeted RNA-Seq in cancer molecular diagnostics","author":"Siddaway R","unstructured":"Siddaway R, Glembocki A, Arnoldo A, et al. Clinical utility of targeted RNA-Seq in cancer molecular diagnostics. Nat Med. Published online July 17, 2025. doi:10.1038\/s41591-025-03848-8","journal-title":"Nat Med"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2013.11.002"},{"key":"e_1_3_2_38_2","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-13-0639"},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-22-1646"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30065"},{"key":"e_1_3_2_41_2","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2015.75"},{"issue":"3","key":"e_1_3_2_42_2","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1002\/gcc.23010","article-title":"Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma driven by RAS\/RAF mutations","volume":"202261","author":"Agaram NP","unstructured":"Agaram NP, Huang SC, Tap WD, Wexler LH, Antonescu CR. Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma driven by RAS\/RAF mutations. Genes Chromosomes Cancer. 202261(3):131-137.","journal-title":"Genes Chromosomes Cancer"},{"key":"e_1_3_2_43_2","doi-asserted-by":"publisher","DOI":"10.3390\/cancers15164034"},{"key":"e_1_3_2_44_2","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.27935"},{"key":"e_1_3_2_45_2","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22050"},{"key":"e_1_3_2_46_2","doi-asserted-by":"publisher","DOI":"10.1111\/pin.12908"},{"key":"e_1_3_2_47_2","doi-asserted-by":"publisher","DOI":"10.1080\/07357907.2023.2255668"},{"key":"e_1_3_2_48_2","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22187"},{"key":"e_1_3_2_49_2","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001227"},{"key":"e_1_3_2_50_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-019-0323-8"},{"key":"e_1_3_2_51_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12105-022-01418-9"},{"key":"e_1_3_2_52_2","doi-asserted-by":"publisher","DOI":"10.1177\/10935266211013621"},{"key":"e_1_3_2_53_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-019-0436-0"},{"key":"e_1_3_2_54_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-198901000-00004"},{"key":"e_1_3_2_55_2","doi-asserted-by":"publisher","DOI":"10.1097\/PAP.0b013e3181cfe732"},{"key":"e_1_3_2_56_2","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31826e0271"},{"key":"e_1_3_2_57_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104976"},{"key":"e_1_3_2_58_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2014.59.5728"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266251370493","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266251370493","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266251370493","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:12:02Z","timestamp":1777695122000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266251370493"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,9]]},"references-count":57,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1177\/10935266251370493"],"URL":"https:\/\/doi.org\/10.1177\/10935266251370493","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,9]]}}}