{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:41:53Z","timestamp":1792806113833,"version":"4.5.0"},"reference-count":31,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3]]},"abstract":"\n OBJECTIVE<\/jats:title>\n The authors aimed to investigate genetic alterations in low-grade gliomas (LGGs) in pediatric and young adult patients presenting with spontaneous hemorrhage.<\/jats:p>\n <\/jats:sec>\n \n METHODS<\/jats:title>\n \n Patients younger than 30 years of age with a pathological diagnosis of World Health Organization (WHO) grade I or II glioma and who had undergone treatment at the authors\u2019 institution were retrospectively examined.\n BRAF<\/jats:italic>\n V600E,\n FGFR1<\/jats:italic>\n N546\/K656,\n IDH1<\/jats:italic>\n R132,\n IDH2<\/jats:italic>\n R172, and\n KIAA1549-BRAF<\/jats:italic>\n (\n K-B<\/jats:italic>\n ) fusion genetic alterations were identified, and the presence of spontaneous tumoral hemorrhage was recorded.\n <\/jats:p>\n <\/jats:sec>\n \n RESULTS<\/jats:title>\n \n Among 66 patients (39 with WHO grade I and 27 with grade II tumors), genetic analysis revealed\n K-B<\/jats:italic>\n fusion in 18 (27.3%),\n BRAF<\/jats:italic>\n V600E mutation in 14 (21.2%),\n IDH1\/2<\/jats:italic>\n mutation in 8 (12.1%), and\n FGFR1<\/jats:italic>\n mutation in 4 (6.1%). Spontaneous hemorrhage was observed in 5 patients (7.6%); 4 of them had an\n FGFR1<\/jats:italic>\n mutation and 1 had\n K-B<\/jats:italic>\n fusion. Univariate analysis revealed a statistically significant association of an\n FGFR1<\/jats:italic>\n mutation and a diencephalic location with spontaneous hemorrhage. Among 19 diencephalic cases including the optic pathway, hypothalamus, and thalamus, an\n FGFR1<\/jats:italic>\n mutation was significantly associated with spontaneous hemorrhage (p < 0.001). Four\n FGFR1<\/jats:italic>\n mutation cases illustrated the following results: 1) a 2-year-old female with pilomyxoid astrocytoma (PMA) harboring the\n FGFR1<\/jats:italic>\n K656E mutation presented with intraventricular hemorrhage (IVH); 2) a 6-year-old male with PMA harboring\n FGFR1<\/jats:italic>\n K656E and D652G mutations presented with intratumoral hemorrhage (ITH); 3) a 4-year-old female with diffuse astrocytoma harboring\n FGFR1<\/jats:italic>\n K656M and D652G mutations presented with IVH; and 4) a young adult patient with pilocytic astrocytoma with the\n FGFR1<\/jats:italic>\n N546K mutation presented with delayed ITH and IVH after 7 years of observation.\n <\/jats:p>\n <\/jats:sec>\n \n CONCLUSIONS<\/jats:title>\n \n Although the mechanism remains unclear, the\n FGFR1<\/jats:italic>\n mutation is associated with spontaneous hemorrhage in pediatric and young adult LGG.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3171\/2019.12.jns192155","type":"journal-article","created":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T09:51:26Z","timestamp":1583488286000},"page":"733-741","source":"Crossref","is-referenced-by-count":31,"title":["Association of the FGFR1 mutation with spontaneous hemorrhage in low-grade gliomas in pediatric and young adult patients"],"prefix":"10.3171","volume":"134","author":[{"given":"Yukitomo","family":"Ishi","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Hokkaido University School of Medicine, Kita-ku, Sapporo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeru","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hokkaido University School of Medicine, Kita-ku, Sapporo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanako C.","family":"Hatanaka","sequence":"additional","affiliation":[{"name":"Department of Surgical Pathology, Hokkaido University Hospital, Kita-ku, Sapporo; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michinari","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hokkaido University School of Medicine, Kita-ku, Sapporo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Motegi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hokkaido University School of Medicine, Kita-ku, Sapporo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hokkaido University School of Medicine, Kita-ku, Sapporo;"},{"name":"Department of Neurosurgery, Kashiwaba Neurosurgical Hospital, Toyohira-ku, Sapporo, Hokkaido, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunsuke","family":"Terasaka","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hokkaido University School of Medicine, Kita-ku, Sapporo;"},{"name":"Department of Neurosurgery, Kashiwaba Neurosurgical Hospital, Toyohira-ku, Sapporo, Hokkaido, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyohiro","family":"Houkin","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hokkaido University School of Medicine, Kita-ku, Sapporo;"},{"name":"Department of Neurosurgery, Kashiwaba Neurosurgical Hospital, Toyohira-ku, Sapporo, Hokkaido, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"key":"b1","series-title":"J Neuropathol Exp Neurol","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1097\/NEN.0000000000000213","article-title":"KIAA1549: BRAF gene fusion and FGFR1 hotspot mutations are prognostic factors in pilocytic astrocytomas","volume":"74","author":"Becker AP","year":"2015","unstructured":"Becker AP, Scapulatempo-Neto C, Carloni AC, Paulino A, Sheren J, Aisner DL, : KIAA1549: BRAF gene fusion and FGFR1 hotspot mutations are prognostic factors in pilocytic astrocytomas. 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