Summary of recommendation for approach to somatic molecular profiling of pediatric gliomas
| Tumor Type . | Molecular Subgroup or Recurrent Alteration . | Recommended Expanded Molecular Testing . |
|---|---|---|
| LGG at diagnosis | Clinical criteria or molecular confirmation of NF1. | No further testing unless atypical clinical or pathologic features. |
| Does not meet clinical criteria for NF1 | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| OR • Targeted testing for BRAF alterations, including BRAF:KIAA fusion (eg, FISH for BRAF duplication) • BRAF V600E (IHC and/or PCR) • H3K27M mutation (IHC) in midline gliomas • IDH1 R132H mutation (IHC and/or PCR) | ||
| LGG at recurrence or progression | Positive BRAF testing, first relapse. | No further testing |
| Positive BRAF testing, 2+ relapses. | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| Negative BRAF testing. | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| HGG or DIPG at diagnosis or recurrence/progression | • H3K27M mutation (IHC) in midline gliomas • Tumor NGS (DNA cancer-related gene panel, +RNA when available) |
| Tumor Type . | Molecular Subgroup or Recurrent Alteration . | Recommended Expanded Molecular Testing . |
|---|---|---|
| LGG at diagnosis | Clinical criteria or molecular confirmation of NF1. | No further testing unless atypical clinical or pathologic features. |
| Does not meet clinical criteria for NF1 | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| OR • Targeted testing for BRAF alterations, including BRAF:KIAA fusion (eg, FISH for BRAF duplication) • BRAF V600E (IHC and/or PCR) • H3K27M mutation (IHC) in midline gliomas • IDH1 R132H mutation (IHC and/or PCR) | ||
| LGG at recurrence or progression | Positive BRAF testing, first relapse. | No further testing |
| Positive BRAF testing, 2+ relapses. | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| Negative BRAF testing. | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| HGG or DIPG at diagnosis or recurrence/progression | • H3K27M mutation (IHC) in midline gliomas • Tumor NGS (DNA cancer-related gene panel, +RNA when available) |
Summary of recommendation for approach to somatic molecular profiling of pediatric gliomas
| Tumor Type . | Molecular Subgroup or Recurrent Alteration . | Recommended Expanded Molecular Testing . |
|---|---|---|
| LGG at diagnosis | Clinical criteria or molecular confirmation of NF1. | No further testing unless atypical clinical or pathologic features. |
| Does not meet clinical criteria for NF1 | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| OR • Targeted testing for BRAF alterations, including BRAF:KIAA fusion (eg, FISH for BRAF duplication) • BRAF V600E (IHC and/or PCR) • H3K27M mutation (IHC) in midline gliomas • IDH1 R132H mutation (IHC and/or PCR) | ||
| LGG at recurrence or progression | Positive BRAF testing, first relapse. | No further testing |
| Positive BRAF testing, 2+ relapses. | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| Negative BRAF testing. | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| HGG or DIPG at diagnosis or recurrence/progression | • H3K27M mutation (IHC) in midline gliomas • Tumor NGS (DNA cancer-related gene panel, +RNA when available) |
| Tumor Type . | Molecular Subgroup or Recurrent Alteration . | Recommended Expanded Molecular Testing . |
|---|---|---|
| LGG at diagnosis | Clinical criteria or molecular confirmation of NF1. | No further testing unless atypical clinical or pathologic features. |
| Does not meet clinical criteria for NF1 | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| OR • Targeted testing for BRAF alterations, including BRAF:KIAA fusion (eg, FISH for BRAF duplication) • BRAF V600E (IHC and/or PCR) • H3K27M mutation (IHC) in midline gliomas • IDH1 R132H mutation (IHC and/or PCR) | ||
| LGG at recurrence or progression | Positive BRAF testing, first relapse. | No further testing |
| Positive BRAF testing, 2+ relapses. | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| Negative BRAF testing. | Tumor NGS (DNA cancer-related gene panel, +RNA when available) | |
| HGG or DIPG at diagnosis or recurrence/progression | • H3K27M mutation (IHC) in midline gliomas • Tumor NGS (DNA cancer-related gene panel, +RNA when available) |
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