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Table 1 Summary of the cohort of 30 patients with low-grade neuroepithelial tumors harboring FGFR1 alterations that were studied

From: Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor

Patient Age at dx (yrs) Sex Tumor location Histologic features Methylation cluster Genetic alterations Chromosome 8p status
RGNT #1 26 M 4th ventricle/cerebellum Rosette-forming glioneuronal tumor RGNT FGFR1 p.N546K (28%), PIK3CA p.H1047R (28%), NF1 p.K1444E (28%) Diploid
RGNT #2 23 F 4th ventricle/cerebellum Rosette-forming glioneuronal tumor RGNT FGFR1 p.N546K (42%), PIK3CA p.H1047R (29%), NF1 p.I2058V (44%) LOH
RGNT #3 16 F 4th ventricle/cerebellum Rosette-forming glioneuronal tumor RGNT FGFR1 p.N546K (43%), PIK3CA p.K111del (42%), NF1 p.E1206fs (40%) Diploid
RGNT #4 14 M 4th ventricle/cerebellum Rosette-forming glioneuronal tumor RGNT FGFR1 p.N546K (37%) + p.K523T (8%), PIK3CA p.E542K (22%), NF1 p.N2387_F2388del (30%) Diploid
RGNT #5 30 F 4th ventricle/cerebellum Rosette-forming glioneuronal tumor RGNT FGFR1 p.N546K (56%), PIK3CA p.H1047L (43%) Trisomy
RGNT #6 46 M 3rd ventricle Low-grade oligodendroglial tumor NOS RGNT FGFR1 p.N546K (55%), PIK3CA p.E542K (28%) LOH
RGNT #7 11 F 3rd ventricle Low-grade oligodendroglial tumor NOS RGNT FGFR1 p.K656E (86%), PIK3CA p.G106_E109del (32%) LOH
RGNT #8 11 M 4th ventricle/cerebellum Rosette-forming glioneuronal tumor RGNT FGFR1 p.K656E (29%), PIK3R1 p.T454_F456delinsT (26%), PTPN11 p.A72T (32%) Diploid
RGNT #9 38 F 4th ventricle/cerebellum Rosette-forming glioneuronal tumor RGNT FGFR1 p.N546K (77%), PIK3R1 p.L449_H450delinsF (39%) LOH
RGNT #10 20 F 4th ventricle/cerebellum Low-grade oligodendroglial tumor NOS RGNT FGFR1 p.K656E (37%) + p.D652G (37%) Diploid
PA #1 13 M 3rd ventricle Rosette-forming glioneuronal tumor PA, PF FGFR1 p.N546K (35%) + p.R675G (34%) Diploid
PA #2 17 M Cerebral hemisphere Pilocytic astrocytoma PA, MID FGFR1 p.K656E (32%) + p.V561M (47%) Diploid
PA #3 14 M Thalamus Rosette-forming glioneuronal tumor PA, PF FGFR1 p.N546K (69%) Trisomy + LOH
PA #4 17 M 3rd ventricle Low-grade oligodendroglial tumor NOS PA, MID FGFR1 p.N546K (40%), PTPN11 p.G60V (51%) Diploid
PA #5 29 M 3rd ventricle Pilocytic astrocytoma PA, ST FGFR1 p.K656E (32%), NF1 p.P866fs (24%) Trisomy
PA #6 72 F Lateral ventricle Pilocytic astrocytoma PA, ST FGFR1 tandem duplication (p.V429_A815dup, exons 10-18) Diploid
PA #7 46 F 4th ventricle/cerebellum Low-grade oligodendroglial tumor NOS PA, PF FGFR1 tandem duplication (p.M390_D768dup, exons 9-18) Diploid
PA #8 10 M Spinal cord Pilocytic astrocytoma PA, PF FGFR1 tandem duplication (p.V429_G791dup, exons 10-18) Diploid
DNT #1 46 F Cerebral hemisphere Low-grade oligodendroglial tumor NOS DNT FGFR1 p.K656E (38%) + p.N546S (33%) Diploid
DNT #2 42 F Cerebral hemisphere Low-grade oligodendroglial tumor NOS DNT FGFR1 p.N546K (30%), PTPN11 p.G503V (29%) Diploid
DNT #3 6 M Cerebral hemisphere Dysembryoplastic neuroepithelial tumor DNT FGFR1 tandem duplication (p.V429_S785dup, exons 10-18) Diploid
DNT #4 11 M Cerebral hemisphere Low-grade oligodendroglial tumor NOS DNT FGFR1 tandem duplication (p.V429_A815dup, exons 10-18), NF1 p.D1248fs (6%) Diploid
DNT #5 22 M Lateral ventricle Low-grade oligodendroglial tumor NOS DNT FGFR1 tandem duplication (p.S420_K820dup, exons 9-18), NF1 p.P1421R (16%) Trisomy
EVN #1 31 M Cerebral hemisphere Neurocytic tumor EVN FGFR1-TACC1 fusion (exons 1-18, exons 7-13) Diploid
EVN #2 35 M Cerebral hemisphere Neurocytic tumor EVN FGFR1-TACC1 fusion (exons 1-17, exons 7-13) Diploid
uLGNET #1 47 F 3rd ventricle Low-grade oligodendroglial tumor NOS Unclassified FGFR1 p.N546K (49%), PIK3CA p.G118D (78%), NF1 exon 35 del Diploid
uLGNET #2 26 F Lateral ventricle Low-grade oligodendroglial tumor NOS Unclassified FGFR1 p.K656E (29%) + p.I544V (31%), PIK3R1 p.K567E (28%) Diploid
uLGNET #3 35 F Cerebral hemisphere Low-grade oligodendroglial tumor NOS Unclassified FGFR1 p.K656E (10%) + p.D652G (10%) Diploid
uLGNET #4 21 F Lateral ventricle Low-grade oligodendroglial tumor NOS Unclassified FGFR1 p.K656E (6%) + p.D652G (6%) Diploid
uLGNET #5 8 M 3rd ventricle Low-grade oligodendroglial tumor NOS Unclassified FGFR1 tandem duplication (p.C389_G818dup, exons 9-18) Polysomy (4N)
  1. RefSeq transcript ID’s: FGFR1, NM_023110; PIK3CA, NM_006218; PIK3R1, NM_181523; NF1, NM_001042492; PTPN11, NM_002834