TABLE 1.
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)