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. Author manuscript; available in PMC: 2020 Oct 15.
Published in final edited form as: Pediatr Blood Cancer. 2019 Oct 8;67(1):e28028. doi: 10.1002/pbc.28028

TABLE 1.

Clinical, histological, and molecular characteristics of patients with CNS tumors with genomic rearrangements or fusions.

ID Age at Diagnosis (years) Sex Tumor Location Histologic Diagnosis WHO Grade Genetic Alteration Method of Testing Therapy Follow-up (months) Follow-up Status
1 0.4 F Brainstem, thalamus, chiasm Diffuse astrocytoma II FGFR1 TKD duplication Archer Biopsy → Carboplatin/ Etoposide 10.5 Progression
Vinblastine/ Avastin 4.5 Death
2 3 M Bilateral thalamus Pediatric type oligodendroglioma II FGFR1 TKD duplication Archer Biopsy→ Obs 1.5 Progression
Frontal horn PA I Carboplatin/ Vinblastine + RT 25 Death
3 2 F Hypo-thalamus PMA I FGFR1 TKD duplication Archer Biopsy→ Carboplatin/ VCR /Gleevec/TMZ 4 Progression
Re-resection 4 Death
4 9 M Temporo-parietal Extraventricular neurocytoma II FGFR1-TACC1 Archer STR → GTR + RT 8 Alive
5 1.8 M Medullary/ Cervical spine PA/PMA FGFR1-TACC1 Archer STR→ Obs 2 Progression
RT + Trametinib 19 Alive, on therapy
6 16 F Tectal plate PA I FGFR-TACC1 Archer Biopsy→Obs 15 Alive
7* 6 F Peri-insular Ganglioglioma I FGFR2-KIAA1598 fusion Archer New patient N/A N/A
8^ 5 M Thalamus PA II MYB-QKI Archer Biopsy→ Carboplatin/ VCR 3 Progression
STR, RT→ MEK inhibitor → multi-kinase inhibitor + everolimus 102 Alive, progressive disease
9^ 2 M Frontal PMA (NF1-associated) II MYB-QKI Archer GTR 15 Progression
Frontal, Cervical spine GTR→ Carboplatin → Trametinib 42 Alive, progressive disease
10* 8 F Cauda equina EPN w/ myxo-papillary features II PPP1CB-ALK Archer GTR 99 Alive
11 3 F Frontal Epithelioid GBM IV ETV6-NTRK3 Archer STR + Carboplatin/ Etoposide 2 Progression
RT + NTRK inhibitor 11 Alive, on therapy
12 10 F Pons DIPG IV ZKSCAN1-NTRK3 Archer Biopsy → RT + Avastin 3 Death
13 6 M Thalamus PA I GOPC-ROS1 Archer GTR 13 Alive
14 7 M Cerebellum PA I SRGAP3-RAF1 Archer GTR 26 Alive
15 18 F Brainstem Infiltrating glioma with equivocal ganglioglioma component I-II N/A Archer Biopsy→ RT + Avastin 59 Progression
Cerebellum Anaplastic infiltrating glioma PTPRZ1-MET Re-Biopsy→ TMZ + RT 3 Alive, on therapy
16* 19 F Fronto-parietal Anaplastic ganglioglioma III CIC-LEUTX Research RNA-Seq GTR 10 Progression
RT + TMZ → STR + RT (CSI) + Carboplatin → Cytoxan/Doxo/Ifos/Etoposide 56 Alive, progressive disease
17* 12 F Intra-ventricular Metastatic anaplastic astrocytoma with epithelioid GBM features III-IV CIC-LEUTX Foundation One GTR + RT/TMZ 3 Alive, on therapy
18* 5 F Frontal Astroblastoma MN1-BEND2 Research RNA-Seq GTR 85 Alive
19# 3 M Temporal EPN II MN1-CXXC5 Research RNA-Seq GTR 8 Progression
20 5 M Parietal Anaplastic EPN III C11orf95-RELA Archer GTR + proton RT (elsewhere) 13 Progression
Metastatic anaplastic EPN PD1 inhibitor + debulking of metastases x 2 3 Alive, on therapy
21 5 F Temporal Metastatic anaplastic EPN III C11orf95-RELA Archer GTR + RT (elsewhere) 10 Progression
PD1 inhibitor 5 Death
22 11 M Parietal Anaplastic EPN III C11orf95-RELA St. Jude NTR (elsewhere), re-resection +focal RT 2 Progression
Re-resection 1 Alive, on therapy
23 3 F Thalamus PA I-II ETV-ITPR2 Archer STR + Carboplatin/ Vinblastine 16 Alive
24# 0.5 M 4th ventricle Anaplastic EPN III BRAF-KIAA1549 Archer STR + Carboplatin/ Etoposide → GTR + RT 77 Alive
*

indicates patients with a previously unreported or extremely rare fusion for a diagnosis.

#

indicates patients for whom histological and molecular findings were discordant and molecular findings led to a change in diagnosis.

^

indicates patients for whom a fusion result prompted diagnosis refinement.

TKD=tyrosine kinase domain, PA=pilocytic astrocytoma, STR=subtotal resection, GTR=gross total resection, PMA=pilomyxoid astrocytoma, VCR=vincristine, TMZ=temozolomide, Obs=observation, RT=radiation therapy, NF1=neurofibromatosis type 1, EPN=ependymoma, GBM=glioblastoma, DIPG=diffuse intrinsic pontine glioma, NTR=near-total resection, NTRK=neurotrophic receptor tyrosine kinase, Doxo=doxorubicin, Ifos=ifosfamide, PNET=primitive neuroectodermal tumor, autoSCT=autologous stem cell transplant, PD1=programmed cell death protein 1, Archer= Archer fusion panel conducted at CLIA-certified Colorado Molecular Correlates Laboratory (CMOCO)