NCT00602667 · OUTCOME
Numbers of Patients With Gene Alterations
Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma · Source last updated 2026-05-19
Results reported by the registry submitting party. Population, time horizon, units and missing values must be read together.
- Measure
- COUNT_OF_PARTICIPANTS
- Unit
- Participants
- Interval / dispersion
- Not reported
- Time frame
- Based on samples obtained at the time of initial surgery or repeat surgery prior to treatment
What was measured
Gene alterations, which include single nucleotide variants (SNPs), amplifications, deletions, translocations, indels, and germline alterations are shown for specific genes of interest in the results table.
Analysis population: Eligible medulloblastoma patients (n=81) were included in these analyses. Not all patients had data available for each gene.
Groups in this outcome
Low-Risk Group
Medulloblastoma patients \<3 years of age; histological diagnosis of desmoplastic nodular (DN)/medulloblastoma with extensive nodularity (MBEN); no evidence of metastatic disease (M0); and a surgical gross total resection (GTR) or near total resection (NTR) defined as residual tumor or imaging abnormality (not definite for residual tumor) with a size of less than 1 cm\^2 on post-op computed tomography (CT) or magnetic resonance imaging (MRI) \[R0\])
Intermediate-Risk Group
Medulloblastoma patients \<3 years of age, M0, and either R0 resection with any other medullo histology other than DN/MBEN (i.e., classic or large cell anaplastic (LCA)), or with a subtotal resection (with a residual tumor or imaging abnormality with a size of \>1 cm\^2 on post-op imaging (R+), and DN/MBEN). Children 3-5 years of age were also included in this group High Risk
High-Risk Group
Medulloblastoma patients \<3 years of age with evidence of metastatic disease
Group identifiers and denominators belong to this outcome only. They may differ in another outcome or in safety reporting.
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 23 |
|---|
| Intermediate-Risk Group | 32 |
|---|
| High-Risk Group | 26 |
|---|
Reported measurements
PTCH1 alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 23 |
|---|
| Intermediate-Risk Group | 28 |
|---|
| High-Risk Group | 24 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 7 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 4 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 3 | Not reported | Not reported | Not reported | Not reported |
|---|
SUFU alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 23 |
|---|
| Intermediate-Risk Group | 28 |
|---|
| High-Risk Group | 24 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 6 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 1 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 1 | Not reported | Not reported | Not reported | Not reported |
|---|
KMT2D alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 22 |
|---|
| Intermediate-Risk Group | 20 |
|---|
| High-Risk Group | 17 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 5 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 1 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 3 | Not reported | Not reported | Not reported | Not reported |
|---|
SMO alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 22 |
|---|
| Intermediate-Risk Group | 20 |
|---|
| High-Risk Group | 17 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 2 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 1 | Not reported | Not reported | Not reported | Not reported |
|---|
BCOR alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 22 |
|---|
| Intermediate-Risk Group | 20 |
|---|
| High-Risk Group | 17 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 1 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
PTEN alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 23 |
|---|
| Intermediate-Risk Group | 28 |
|---|
| High-Risk Group | 24 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 1 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
BRCA2 alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 22 |
|---|
| Intermediate-Risk Group | 20 |
|---|
| High-Risk Group | 17 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
GLI2 alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 23 |
|---|
| Intermediate-Risk Group | 26 |
|---|
| High-Risk Group | 23 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
SMARCA4 alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 22 |
|---|
| Intermediate-Risk Group | 20 |
|---|
| High-Risk Group | 17 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 2 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 1 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
TP53 alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 23 |
|---|
| Intermediate-Risk Group | 28 |
|---|
| High-Risk Group | 24 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
MYCN alteration
Analysis denominator · Participants
| Group | Source count |
|---|
| Low-Risk Group | 23 |
|---|
| Intermediate-Risk Group | 28 |
|---|
| High-Risk Group | 24 |
|---|
Values in Participants · Interval/dispersion: Not reported| Group | Value | Spread | Lower | Upper | Comment |
|---|
| Low-Risk Group | 0 | Not reported | Not reported | Not reported | Not reported |
|---|
| Intermediate-Risk Group | 1 | Not reported | Not reported | Not reported | Not reported |
|---|
| High-Risk Group | 1 | Not reported | Not reported | Not reported | Not reported |
|---|
Complete source fields
- classes
- categories
- measurements
- group Id
- OG000
- value
- 7
- group Id
- OG001
- value
- 4
- group Id
- OG002
- value
- 3
- denoms
- counts
- group Id
- OG000
- value
- 23
- group Id
- OG001
- value
- 28
- group Id
- OG002
- value
- 24
- units
- Participants
- title
- PTCH1 alteration
- categories
- measurements
- group Id
- OG000
- value
- 6
- group Id
- OG001
- value
- 1
- group Id
- OG002
- value
- 1
- denoms
- counts
- group Id
- OG000
- value
- 23
- group Id
- OG001
- value
- 28
- group Id
- OG002
- value
- 24
- units
- Participants
- title
- SUFU alteration
- categories
- measurements
- group Id
- OG000
- value
- 5
- group Id
- OG001
- value
- 1
- group Id
- OG002
- value
- 3
- denoms
- counts
- group Id
- OG000
- value
- 22
- group Id
- OG001
- value
- 20
- group Id
- OG002
- value
- 17
- units
- Participants
- title
- KMT2D alteration
- categories
- measurements
- group Id
- OG000
- value
- 2
- group Id
- OG001
- value
- 0
- group Id
- OG002
- value
- 1
- denoms
- counts
- group Id
- OG000
- value
- 22
- group Id
- OG001
- value
- 20
- group Id
- OG002
- value
- 17
- units
- Participants
- title
- SMO alteration
- categories
- measurements
- group Id
- OG000
- value
- 1
- group Id
- OG001
- value
- 0
- group Id
- OG002
- value
- 0
- denoms
- counts
- group Id
- OG000
- value
- 22
- group Id
- OG001
- value
- 20
- group Id
- OG002
- value
- 17
- units
- Participants
- title
- BCOR alteration
- categories
- measurements
- group Id
- OG000
- value
- 1
- group Id
- OG001
- value
- 0
- group Id
- OG002
- value
- 0
- denoms
- counts
- group Id
- OG000
- value
- 23
- group Id
- OG001
- value
- 28
- group Id
- OG002
- value
- 24
- units
- Participants
- title
- PTEN alteration
- categories
- measurements
- group Id
- OG000
- value
- 0
- group Id
- OG001
- value
- 0
- group Id
- OG002
- value
- 0
- denoms
- counts
- group Id
- OG000
- value
- 22
- group Id
- OG001
- value
- 20
- group Id
- OG002
- value
- 17
- units
- Participants
- title
- BRCA2 alteration
- categories
- measurements
- group Id
- OG000
- value
- 0
- group Id
- OG001
- value
- 0
- group Id
- OG002
- value
- 0
- denoms
- counts
- group Id
- OG000
- value
- 23
- group Id
- OG001
- value
- 26
- group Id
- OG002
- value
- 23
- units
- Participants
- title
- GLI2 alteration
- categories
- measurements
- group Id
- OG000
- value
- 2
- group Id
- OG001
- value
- 1
- group Id
- OG002
- value
- 0
- denoms
- counts
- group Id
- OG000
- value
- 22
- group Id
- OG001
- value
- 20
- group Id
- OG002
- value
- 17
- units
- Participants
- title
- SMARCA4 alteration
- categories
- measurements
- group Id
- OG000
- value
- 0
- group Id
- OG001
- value
- 0
- group Id
- OG002
- value
- 0
- denoms
- counts
- group Id
- OG000
- value
- 23
- group Id
- OG001
- value
- 28
- group Id
- OG002
- value
- 24
- units
- Participants
- title
- TP53 alteration
- categories
- measurements
- group Id
- OG000
- value
- 0
- group Id
- OG001
- value
- 1
- group Id
- OG002
- value
- 1
- denoms
- counts
- group Id
- OG000
- value
- 23
- group Id
- OG001
- value
- 28
- group Id
- OG002
- value
- 24
- units
- Participants
- title
- MYCN alteration
- denoms
- counts
- group Id
- OG000
- value
- 23
- group Id
- OG001
- value
- 32
- group Id
- OG002
- value
- 26
- units
- Participants
- description
- Gene alterations, which include single nucleotide variants (SNPs), amplifications, deletions, translocations, indels, and germline alterations are shown for specific genes of interest in the results table.
- groups
- description
- Medulloblastoma patients \<3 years of age; histological diagnosis of desmoplastic nodular (DN)/medulloblastoma with extensive nodularity (MBEN); no evidence of metastatic disease (M0); and a surgical gross total resection (GTR) or near total resection (NTR) defined as residual tumor or imaging abnormality (not definite for residual tumor) with a size of less than 1 cm\^2 on post-op computed tomography (CT) or magnetic resonance imaging (MRI) \[R0\])
- id
- OG000
- title
- Low-Risk Group
- description
- Medulloblastoma patients \<3 years of age, M0, and either R0 resection with any other medullo histology other than DN/MBEN (i.e., classic or large cell anaplastic (LCA)), or with a subtotal resection (with a residual tumor or imaging abnormality with a size of \>1 cm\^2 on post-op imaging (R+), and DN/MBEN). Children 3-5 years of age were also included in this group High Risk
- id
- OG001
- title
- Intermediate-Risk Group
- description
- Medulloblastoma patients \<3 years of age with evidence of metastatic disease
- id
- OG002
- title
- High-Risk Group
- param Type
- COUNT_OF_PARTICIPANTS
- population Description
- Eligible medulloblastoma patients (n=81) were included in these analyses. Not all patients had data available for each gene.
- reporting Status
- POSTED
- time Frame
- Based on samples obtained at the time of initial surgery or repeat surgery prior to treatment
- title
- Numbers of Patients With Gene Alterations
- type
- SECONDARY
- unit Of Measure
- Participants
Download exact source JSON → · Snapshot ctgov-results-191f4516d4760045304b24a0
Preserved source evidence · Not medical advice
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