Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation
[Paper-level Aggregated] PMCID: PMC8040738
Evidence Type(s): Functional
Summary: Mutation: p.T599dup | Summary: The BRAF p.T599dup mutation is likely to alter molecular or biochemical function, as it is associated with a specific tumor type and was detected through deep, targeted sequencing of tumor DNA.
Gene→Variant (gene-first): BRAF(673):p.T599dup
Genes: BRAF(673)
Variants: p.T599dup
Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation
[Paper-level Aggregated] PMCID: PMC8040738
Evidence Type(s): Oncogenic
Summary: Mutation: p.T599dup | Summary: The BRAF p.T599dup mutation contributes to tumor development or progression, as evidenced by its identification in a low-grade glioma and the patient's diagnosis of a ganglioglioma, indicating the need for targeted therapy due to tumor growth. Its presence in tumor-extracted DNA from the patient's resection further supports its role in tumor development.
Evidence Type: Oncogenic Mutation: p.V600E | Summary: The BRAF p.V600E mutation is known to be oncogenic, as it is indicated for tumors that respond to targeted therapies, highlighting its role in tumor development.
Gene→Variant (gene-first): BRAF(673):p.T599dup BRAF(673):p.V600E
Genes: BRAF(673)
Variants: p.T599dup p.V600E
Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation
[Paper-level Aggregated] PMCID: PMC8040738
Evidence Type(s): Predictive
Summary: Mutation: p.T599dup | Summary: The BRAF p.T599dup mutation is associated with the patient's response to combination targeted therapy with a selective BRAF inhibitor (dabrafenib) and MEK inhibitor (trametinib), indicating its predictive value for treatment efficacy.
Evidence Type: Predictive Mutation: p.V600E | Summary: Although the patient does not have a BRAF p.V600E mutation, the report discusses the efficacy of BRAF and MEK inhibitors in tumors harboring BRAF alterations, suggesting predictive implications for treatment strategies.
Gene→Variant (gene-first): BRAF(673):p.T599dup BRAF(673):p.V600E
Genes: BRAF(673)
Variants: p.T599dup p.V600E
Routine MRI surveillance again showed enlargement of the tumor over the next 6 months following the partial resection (Table 1A). The radiologist reported increases in the size and degree of contrast enhancement of the m
[Paragraph-level] PMCID: PMC8040738 Section: RESULTS PassageIndex: 3
Evidence Type(s): Oncogenic, Functional
Summary: Evidence Type: Oncogenic | Mutation: p.T599dup BRAF | Summary: The p.T599dup BRAF variant is associated with tumor development or progression, as indicated by its presence in tumor-extracted DNA from the patient's resection. Evidence Type: Functional | Mutation: p.T599dup BRAF | Summary: The p.T599dup BRAF variant alters molecular or biochemical function, as it was detected through deep, targeted sequencing of tumor DNA.
Gene→Variant (gene-first): NA:p.T599dup BRAF
Genes: NA
Variants: p.T599dup BRAF
An adolescent female initially presented with blurred vision, papilledema, and hydrocephalus and was diagnosed with a probable low-grade glioma based on magnetic resonance imaging (MRI). The patient was treated for hydro
[Paragraph-level] PMCID: PMC8040738 Section: RESULTS PassageIndex: 2
Evidence Type(s): Oncogenic, Functional
Summary: Evidence Type: Oncogenic | Mutation: p.T599dup | Summary: The BRAF p.T599dup mutation was identified in a low-grade glioma, indicating its contribution to tumor development or progression. Evidence Type: Functional | Mutation: p.T599dup | Summary: The BRAF p.T599dup mutation is likely to alter molecular or biochemical function, as it is associated with a specific tumor type.
Gene→Variant (gene-first): 673:p.T599dup
Genes: 673
Variants: p.T599dup
In this follow-up report, we present updated information regarding a previously reported pediatric patient with a World Health Organization grade I ganglioglioma harboring a BRAF p.T599dup mutation (Cold Spring Harb Mol
[Paragraph-level] PMCID: PMC8040738 Section: ABSTRACT PassageIndex: 1
Evidence Type(s): Predictive, Oncogenic
Summary: Evidence Type: Predictive | Mutation: p.T599dup | Summary: The BRAF p.T599dup mutation is associated with the patient's response to combination targeted therapy with a selective BRAF inhibitor (dabrafenib) and MEK inhibitor (trametinib), indicating its predictive value for treatment efficacy. Evidence Type: Predictive | Mutation: p.V600E | Summary: Although the patient does not have a BRAF p.V600E mutation, the report discusses the efficacy of BRAF and MEK inhibitors in tumors harboring BRAF alterations, suggesting predictive implications for treatment strategies. Evidence Type: Oncogenic | Mutation: p.T599dup | Summary: The BRAF p.T599dup mutation contributes to tumor development or progression, as evidenced by the patient's diagnosis of a ganglioglioma and the need for targeted therapy due to tumor growth. Evidence Type: Oncogenic | Mutation: p.V600E | Summary: The BRAF p.V600E mutation is known to be oncogenic, as it is indicated for tumors that respond to targeted therapies, highlighting its role in tumor development.
Gene→Variant (gene-first): 673:V600E 673:p.T599dup 673:p.V600E
Genes: 673
Variants: V600E p.T599dup p.V600E
Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation
[Paper-level Aggregated] PMCID: PMC8040738
Evidence Type(s): Oncogenic, Predictive, Prognostic
Justification: Oncogenic: The presence of the BRAF p.T599dup mutation in the tumor is associated with tumor growth and progression, indicating its role in oncogenesis. Predictive: The identification of BRAF alterations, including p.T599dup, may assist clinicians in determining alternative targeted treatment strategies, suggesting its predictive value for treatment response. Prognostic: The report discusses the poor prognosis associated with many central nervous system diagnoses, indicating that BRAF mutations may have implications for patient outcomes.
Gene→Variant (gene-first): BRAF(673):V600E BRAF(673):p.T599dup BRAF(673):p.V600E NA:p.T599dup BRAF
Genes: BRAF(673) NA
Variants: V600E p.T599dup p.V600E p.T599dup BRAF
Routine MRI surveillance again showed enlargement of the tumor over the next 6 months following the partial resection (Table 1A). The radiologist reported increases in the size and degree of contrast enhancement of the m
[Paragraph-level] PMCID: PMC8040738 Section: RESULTS PassageIndex: 3
Evidence Type(s): Predictive, Oncogenic
Justification: Predictive: The passage discusses the patient's lack of response to vinblastine treatment, indicating that the p.T599dup BRAF variant may be associated with resistance to this therapy. Oncogenic: The p.T599dup BRAF variant is mentioned in the context of tumor sequencing, suggesting that it contributes to tumor development or progression.
Gene→Variant (gene-first): NA:p.T599dup BRAF
Genes: NA
Variants: p.T599dup BRAF
An adolescent female initially presented with blurred vision, papilledema, and hydrocephalus and was diagnosed with a probable low-grade glioma based on magnetic resonance imaging (MRI). The patient was treated for hydro
[Paragraph-level] PMCID: PMC8040738 Section: RESULTS PassageIndex: 2
Evidence Type(s): Oncogenic
Justification: Oncogenic: The passage discusses the identification of a BRAF p.T599dup mutation in a tumor specimen, indicating that this somatic variant contributes to tumor development or progression, specifically in the context of a low-grade glioma.
Gene→Variant (gene-first): 673:p.T599dup
Genes: 673
Variants: p.T599dup
In this follow-up report, we present updated information regarding a previously reported pediatric patient with a World Health Organization grade I ganglioglioma harboring a BRAF p.T599dup mutation (Cold Spring Harb Mol
[Paragraph-level] PMCID: PMC8040738 Section: ABSTRACT PassageIndex: 1
Evidence Type(s): Predictive, Diagnostic, Oncogenic
Justification: Predictive: The passage discusses the use of combination targeted therapy with a selective BRAF inhibitor and MEK inhibitor for a patient with a BRAF mutation, indicating a correlation with treatment response. Diagnostic: The identification of BRAF alterations is mentioned as a means to assist clinicians in determining alternative targeted treatment strategies, suggesting its role in classifying or defining the tumor type. Oncogenic: The passage implies that the BRAF mutations contribute to tumor development or progression, as the patient has a ganglioglioma harboring a BRAF mutation.
Gene→Variant (gene-first): 673:V600E 673:p.T599dup 673:p.V600E
Genes: 673
Variants: V600E p.T599dup p.V600E
In this follow-up report, we present updated information regarding a previously reported pediatric patient with a World Health Organization grade I ganglioglioma harboring a BRAF p.T599dup mutation (Cold Spring Harb Mol
[Paragraph-level] PMCID: PMC8040738 Section: ABSTRACT PassageIndex: 1
Evidence Type(s): Predictive, Diagnostic, Oncogenic
Justification: Predictive: The passage discusses the use of combination targeted therapy with a selective BRAF inhibitor and MEK inhibitor for a patient with a BRAF mutation, indicating a correlation with treatment response. Diagnostic: The identification of BRAF alterations is mentioned as a means to assist clinicians in determining alternative targeted treatment strategies, suggesting its role in classifying or defining the tumor type. Oncogenic: The passage implies that the BRAF mutations contribute to tumor development or progression, as the patient has a ganglioglioma harboring a BRAF mutation.
Gene→Variant (gene-first): 673:V600E 673:p.T599dup 673:p.V600E
Genes: 673
Variants: V600E p.T599dup p.V600E