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OBJECTIVE  The authors aimed to investigate genetic alterations in low-grade gliomas (LGGs) in pediatric and young adult patients presenting with spontaneous hemorrhage.    METHODS  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’ institution were retrospectively examined.  BRAF  V600E,  FGFR1  N546/K656,  IDH1  R132,  IDH2  R172, and  KIAA1549-BRAF  ( K-B ) fusion genetic alterations were identified, and the presence of spontaneous tumoral hemorrhage was recorded.    RESULTS  Among 66 patients (39 with WHO grade I and 27 with grade II tumors), genetic analysis revealed  K-B  fusion in 18 (27.3%),  BRAF  V600E mutation in 14 (21.2%),  IDH1/2  mutation in 8 (12.1%), and  FGFR1  mutation in 4 (6.1%). Spontaneous hemorrhage was observed in 5 patients (7.6%); 4 of them had an  FGFR1  mutation and 1 had  K-B  fusion. Univariate analysis revealed a statistically significant association of an  FGFR1  mutation and a diencephalic location with spontaneous hemorrhage. Among 19 diencephalic cases including the optic pathway, hypothalamus, and thalamus, an  FGFR1  mutation was significantly associated with spontaneous hemorrhage (p &lt; 0.001). Four  FGFR1  mutation cases illustrated the following results: 1) a 2-year-old female with pilomyxoid astrocytoma (PMA) harboring the  FGFR1  K656E mutation presented with intraventricular hemorrhage (IVH); 2) a 6-year-old male with PMA harboring  FGFR1  K656E and D652G mutations presented with intratumoral hemorrhage (ITH); 3) a 4-year-old female with diffuse astrocytoma harboring  FGFR1  K656M and D652G mutations presented with IVH; and 4) a young adult patient with pilocytic astrocytoma with the  FGFR1  N546K mutation presented with delayed ITH and IVH after 7 years of observation.    CONCLUSIONS  Although the mechanism remains unclear, the  FGFR1  mutation is associated with spontaneous hemorrhage in pediatric and young adult LGG.

Association of the FGFR1 mutation with spontaneous hemorrhage in low-grade gliomas in pediatric and young adult patients