{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T14:50:57Z","timestamp":1773240657063,"version":"3.50.1"},"reference-count":26,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"1","license":[{"start":{"date-parts":[[2023,7,3]],"date-time":"2023-07-03T00:00:00Z","timestamp":1688342400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,3]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>\n                      The etiological significance of the RAS and PI3K pathways has been reported in systemic embryonal rhabdomyosarcoma (ERMS) but not in primary intracranial ERMS (PIERMS). Herein, the authors present a unique case of PIERMS with a\n                      <jats:italic>BRAF<\/jats:italic>\n                      mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBSERVATIONS<\/jats:title>\n                    <jats:p>\n                      A 12-year-old girl with progressive headache and nausea was diagnosed with a tumor in the right parietal lobe. Semi-emergency surgery revealed an intra-axial lesion that was histopathologically identical to an ERMS. Next-generation sequencing indicated a\n                      <jats:italic>BRAF<\/jats:italic>\n                      mutation as a pathogenic variation, but the RAS and PI3K pathways showed no alteration. Although there is no established reference class for PIERMS, the DNA methylation prediction was closest to that of ERMS, indicating the possibility of PIERMS. The final diagnosis was PIERMS. The patient underwent local radiotherapy (50.4 Gy) and multiagent chemotherapy, with no recurrence for 12 months after surgery.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LESSONS<\/jats:title>\n                    <jats:p>\n                      This may be the first case demonstrating the molecular features of PIERMS, especially the intra-axial type. The results showed a mutation in\n                      <jats:italic>BRAF<\/jats:italic>\n                      but not in the RAS and PI3K pathways, which is different from the existing ERMS features. This molecular difference may cause differences in DNA methylation profiles. Accumulation of the molecular features of PIERMS is necessary before any conclusions can be drawn.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/case23207","type":"journal-article","created":{"date-parts":[[2023,7,4]],"date-time":"2023-07-04T13:45:40Z","timestamp":1688478340000},"source":"Crossref","is-referenced-by-count":1,"title":["Detailed molecular and pathological analyses of primary intracranial embryonal rhabdomyosarcoma with a BRAF mutation: illustrative case"],"prefix":"10.3171","volume":"6","author":[{"given":"Masamichi","family":"Abe","sequence":"first","affiliation":[{"name":"Departments of Neurosurgery and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Ono","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felix","family":"Hinz","sequence":"additional","affiliation":[{"name":"Department for Neuropathology, Heidelberg University Hospital, Heidelberg, Germany"},{"name":"Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masataka","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Hiroshima","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Akita University Hospital, Akita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koya","family":"Kodama","sequence":"additional","affiliation":[{"name":"Pediatrics, Akita University Graduate School of Medicine, Akita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michihiro","family":"Yano","sequence":"additional","affiliation":[{"name":"Pediatrics, Akita University Graduate School of Medicine, Akita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Nanjo","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Akita University Hospital, Akita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Pediatrics, Akita University Graduate School of Medicine, Akita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"von Deimling","sequence":"additional","affiliation":[{"name":"Department for Neuropathology, Heidelberg University Hospital, Heidelberg, Germany"},{"name":"Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroaki","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"1","key":"b1","series-title":"Cancer Metastasis Rev","first-page":"287","article-title":"Signaling pathways in rhabdomyosarcoma invasion and metastasis","volume":"39","author":"Ramadan F","year":"2020","unstructured":"Ramadan F, Fahs A, Ghayad SE, Saab R. Signaling pathways in rhabdomyosarcoma invasion and metastasis. Cancer Metastasis Rev. 2020;39(1):287\u2013301.31989508"},{"issue":"2","key":"b2","series-title":"Cancer Discov","first-page":"216","article-title":"Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors","volume":"4","author":"Shern JF","year":"2014","unstructured":"Shern JF, Chen L, Chmielecki J,  Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors. Cancer Discov. 2014;4(2):216\u2013231.24436047"},{"issue":"1","key":"b3","series-title":"Nat Rev Dis Primers","first-page":"1","article-title":"Rhabdomyosarcoma","volume":"5","author":"Skapek SX","year":"2019","unstructured":"Skapek SX, Ferrari A, Gupta AA,  Rhabdomyosarcoma. 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