{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T02:46:06Z","timestamp":1791427566728,"version":"4.3.3"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,4,4]],"date-time":"2019-04-04T00:00:00Z","timestamp":1554336000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["105\u20102320\u2010B\u2010182A\u2010009\u2010MY3"],"award-info":[{"award-number":["105\u20102320\u2010B\u2010182A\u2010009\u2010MY3"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008903","name":"Ministry of Health and Welfare","doi-asserted-by":"publisher","award":["MOHW107\u2010TDU\u2010B\u2010212\u2010114010"],"award-info":[{"award-number":["MOHW107\u2010TDU\u2010B\u2010212\u2010114010"]}],"id":[{"id":"10.13039\/100008903","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      Spindle cell\/sclerosing rhabdomyosarcomas (SC\/SRMS) feature spindled and\/or rounded rhabdomyosarcomatous cells within variably hyalinised stroma. Only 30\u201367% of SC\/SRMSs harbour neomorphic\n                      <jats:italic>MYOD1<\/jats:italic>\n                      p.L122R mutations, indicating heterogeneity in this RMS type. We compared\n                      <jats:italic>MYOD1<\/jats:italic>\n                      \u2010mutant and non\u2010mutant cases to characterise the histological and genetic spectrum of mutated SC\/SRMS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>\n                      Seventeen RMSs with spindled, sclerosing or hybrid histology were sequenced to identify\n                      <jats:italic>MYOD1<\/jats:italic>\n                      and\n                      <jats:italic>PIK3CA<\/jats:italic>\n                      mutations and reappraised to assess histological features and myogenic immunophenotypes. Twelve SC\/SRMSs harboured\n                      <jats:italic>MYOD1<\/jats:italic>\n                      mutations, including homozygous p.L122R (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a08), heterozygous p.L122R (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a03) and heterozygous p.E118K (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a01).\n                      <jats:italic>MYOD1<\/jats:italic>\n                      \u2010mutant tumours affected nine females and three males aged 8\u201364\u00a0years (median\u00a0=\u00a022.5), had a median size of 4.2\u00a0cm (range\u00a0=\u00a02\u201322) and involved the head and neck (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a07), extremities (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a04) and mediastinum (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a01). Fascicular\/spindle histology was predominant in four cases, including one with heterologous lipoblasts in focally myxoid stroma. Four sclerosing cases mainly comprised rounded cells, including one with multinucleated tumour cells. Four cases were histologically hybrid. The only\n                      <jats:italic>PIK3CA<\/jats:italic>\n                      (p.H1047R) mutation was detected in a predominantly spindled\n                      <jats:italic>MYOD1<\/jats:italic>\n                      \u2010p.L122R\u2010mutated case, but not in its laser\u2010microdissected lipoblast\u2010containing area. All\n                      <jats:italic>MYOD1<\/jats:italic>\n                      \u2010mutant cases exhibited diffuse MYOD1 expression but patchy myogenin reactivity. At final follow\u2010up (median\u00a0=\u00a013.5\u00a0months), recurrences (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a04), metastases (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a02) or both (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a01) occurred in seven\n                      <jats:italic>MYOD1<\/jats:italic>\n                      \u2010mutant cases; one had died of disease. Five non\u2010mutated cases were reclassified as spindle embryonal (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a03), dense embryonal (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a01) and unclassifiable (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a01) RMSs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      <jats:italic>MYOD1<\/jats:italic>\n                      \u2010mutant RMSs are uncommonly mutated with\n                      <jats:italic>PIK3CA<\/jats:italic>\n                      and behave aggressively with an expanded morphological and genetic spectrum, including lipoblastic differentiation, multinucleated cells and the alternative p.E118K mutation.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/his.13819","type":"journal-article","created":{"date-parts":[[2019,1,3]],"date-time":"2019-01-03T06:34:57Z","timestamp":1546497297000},"page":"933-943","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["The expanding morphological and genetic spectrum of\n                    <i>MYOD1<\/i>\n                    \u2010mutant spindle cell\/sclerosing rhabdomyosarcomas: a clinicopathological and molecular comparison of mutated and non\u2010mutated cases"],"prefix":"10.1111","volume":"74","author":[{"given":"Jen\u2010Wei","family":"Tsai","sequence":"first","affiliation":[{"name":"Department of Pathology E\u2010DA Hospital I\u2010Shou University Kaohsiung Taiwan"},{"name":"Bone and Soft Tissue Study Group Taiwan Society of Pathology Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi\u2010Che","family":"ChangChien","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Debrecen Clinical Center Debrecen Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jen\u2010Chieh","family":"Lee","sequence":"additional","affiliation":[{"name":"Department and Graduate Institute of Pathology National Taiwan University Hospital National Taiwan University College of Medicine Taipei Taiwan"},{"name":"Bone and Soft Tissue Study Group Taiwan Society of Pathology Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010Chien","family":"Kao","sequence":"additional","affiliation":[{"name":"Department of Pathology Shuang Ho Hospital Taipei Medical University Taipei Taiwan"},{"name":"Bone and Soft Tissue Study Group Taiwan Society of Pathology Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan\u2010Shan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pathology Kaohsiung Medical University Hospital Kaohsiung Taiwan"},{"name":"Bone and Soft Tissue Study Group Taiwan Society of Pathology Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8903-6082","authenticated-orcid":false,"given":"Cher\u2010Wei","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Pathology Fu Jen Catholic University Hospital and Fu Jen Catholic University College of Medicine New Taipei City Taiwan"},{"name":"Bone and Soft Tissue Study Group Taiwan Society of Pathology Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I\u2010Chuang","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Pathology National Cheng Kung University Hospital Tainan Taiwan"},{"name":"Bone and 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