H3 K27M-mutant gliomas in adults vs. children share similar histological features and adverse prognosis
[Paper-level Aggregated] PMCID: PMC5822176
Evidence Type(s): Functional
Summary: Mutation: K27M | Summary: The presence of diffuse H3 K27M immunostaining suggests that this mutation alters molecular function related to histone modification, indicating its role in tumor development and progression.
Gene→Variant (gene-first): IDH1(3417):K27M
Genes: IDH1(3417)
Variants: K27M
H3 K27M-mutant gliomas in adults vs. children share similar histological features and adverse prognosis
[Paper-level Aggregated] PMCID: PMC5822176
Evidence Type(s): Oncogenic
Summary: Mutation: K27M | Summary: The H3 K27M mutation contributes to tumor development and progression, as it is implicated in various types of gliomas, including pediatric diffuse intrinsic pontine gliomas and adult midline diffuse gliomas. It is associated with the transformation of low-grade gliomas to glioblastoma and a lower frequency of ATRX mutation/loss in tumors, indicating its significant role in tumorigenesis.
Gene→Variant (gene-first): IDH1(3417):K27M
Genes: IDH1(3417)
Variants: K27M
H3 K27M-mutant gliomas in adults vs. children share similar histological features and adverse prognosis
[Paper-level Aggregated] PMCID: PMC5822176
Evidence Type(s): Prognostic
Summary: Mutation: K27M | Summary: The H3 K27M mutation has been associated with longer survival in some patients with tumors of alternate morphologies, indicating a potential correlation with disease outcome independent of therapy.
Gene→Variant (gene-first): IDH1(3417):K27M
Genes: IDH1(3417)
Variants: K27M
H3 K27M-mutant gliomas in adults vs. children share similar histological features and adverse prognosis
[Paper-level Aggregated] PMCID: PMC5822176
Evidence Type(s): Diagnostic
Summary: Mutation: K27M | Summary: The K27M mutation is associated with the diagnosis and classification of various grades of astrocytoma, as indicated by the correlation with MIB-1 labeling indices prior to testing.
Gene→Variant (gene-first): IDH1(3417):K27M
Genes: IDH1(3417)
Variants: K27M
MIB-1 labeling indices correlated with the diagnosis and grade assigned prior to H3 K27M IHC testing (Table 1). For the adult cohort, 1 case met WHO criteria for diffuse astrocytoma, WHO grade II (MIB-1 < 1%), 7 cases me
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 6
Evidence Type(s): Diagnostic
Summary: Evidence Type: Diagnostic | Mutation: K27M | Summary: The K27M mutation is associated with the diagnosis and classification of various grades of astrocytoma, as indicated by the correlation with MIB-1 labeling indices prior to testing.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
The known lower frequency of ATRX mutation/loss of ATRX nuclear immunostaining in only 10 - 15% of H3 K27M-mutant tumors makes this feature less amenable to comparisons between the 2 cohorts. However, of the 7 adult case
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 5
Evidence Type(s): Oncogenic
Summary: Evidence Type: Oncogenic | Mutation: K27M | Summary: The K27M mutation is associated with a lower frequency of ATRX mutation/loss in tumors, indicating its role in tumor development or progression.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
Four cases had other morphologies at initial biopsy, including pure GG (n = 3, pediatric) and PA (n = 1, adult) histologies. One of the GGs was a 16-year-old girl with an original biopsy demonstrating a pure thalamic GG
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 4
Evidence Type(s): Oncogenic, Functional
Summary: Evidence Type: Oncogenic | Mutation: K27M | Summary: The K27M mutation is associated with the transformation of low-grade gliomas to glioblastoma, indicating its role in tumor development and progression. Evidence Type: Functional | Mutation: K27M | Summary: The presence of diffuse H3 K27M immunostaining suggests that this mutation alters molecular function related to histone modification.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
Table 1 summarizes the ages, gender, anatomical location, initial histological diagnoses, and p53 IHC labeling indices discerned prior to H3 K27M IHC in the 28 H3 K27M-mutant tumors identified in our databases. There wer
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 2
Evidence Type(s): None
Summary: Not enough information in this passage.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
Background: H3 K27M mutation was originally described in pediatric diffuse intrinsic pontine gliomas (DIPGs), but has been recently recognized to occur also in adult midline diffuse gliomas, as well as midline tumors wit
[Paragraph-level] PMCID: PMC5822176 Section: ABSTRACT PassageIndex: 1
Evidence Type(s): Prognostic, Oncogenic
Summary: Evidence Type: Prognostic | Mutation: K27M | Summary: The H3 K27M mutation has been associated with longer survival in some patients with tumors of alternate morphologies, indicating a potential correlation with disease outcome independent of therapy. Evidence Type: Oncogenic | Mutation: K27M | Summary: The H3 K27M mutation contributes to tumor development and progression, as it is implicated in various types of gliomas, including pediatric diffuse intrinsic pontine gliomas and adult midline diffuse gliomas.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
H3 K27M-mutant gliomas in adults vs. children share similar histological features and adverse prognosis
[Paper-level Aggregated] PMCID: PMC5822176
Evidence Type(s): Prognostic, Oncogenic
Justification: Prognostic: The text indicates that longer survival has been reported in some patients with H3 K27M-mutant tumors, suggesting that the presence of this mutation may correlate with survival outcomes. Oncogenic: The H3 K27M mutation is associated with the transformation of tumors, as seen in the case where a pure ganglioglioma transformed into glioblastoma, indicating its role in tumorigenesis.
Gene→Variant (gene-first): IDH1(3417):K27M
Genes: IDH1(3417)
Variants: K27M
MIB-1 labeling indices correlated with the diagnosis and grade assigned prior to H3 K27M IHC testing (Table 1). For the adult cohort, 1 case met WHO criteria for diffuse astrocytoma, WHO grade II (MIB-1 < 1%), 7 cases me
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 6
Evidence Type(s): Diagnostic
Justification: Diagnostic: The passage discusses the correlation of MIB-1 labeling indices with the diagnosis and grade of tumors, indicating that the K27M variant is associated with specific tumor classifications.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
The known lower frequency of ATRX mutation/loss of ATRX nuclear immunostaining in only 10 - 15% of H3 K27M-mutant tumors makes this feature less amenable to comparisons between the 2 cohorts. However, of the 7 adult case
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 5
Evidence Type(s): None
Justification: Not enough information in this passage.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
Four cases had other morphologies at initial biopsy, including pure GG (n = 3, pediatric) and PA (n = 1, adult) histologies. One of the GGs was a 16-year-old girl with an original biopsy demonstrating a pure thalamic GG
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 4
Evidence Type(s): Oncogenic
Justification: Oncogenic: The passage discusses the transformation of tumors associated with the K27M variant, indicating its role in tumor development and progression, particularly in the context of glioblastoma transformation.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
Table 1 summarizes the ages, gender, anatomical location, initial histological diagnoses, and p53 IHC labeling indices discerned prior to H3 K27M IHC in the 28 H3 K27M-mutant tumors identified in our databases. There wer
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 2
Evidence Type(s): Diagnostic, Oncogenic
Justification: Diagnostic: The passage discusses the identification of H3 K27M-mutant tumors and provides demographic information, indicating that the variant is associated with specific histological diagnoses and patient characteristics. Oncogenic: The mention of H3 K27M in the context of tumors suggests that this somatic variant contributes to tumor development or progression, as it is identified in mutant tumors.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
Background: H3 K27M mutation was originally described in pediatric diffuse intrinsic pontine gliomas (DIPGs), but has been recently recognized to occur also in adult midline diffuse gliomas, as well as midline tumors wit
[Paragraph-level] PMCID: PMC5822176 Section: ABSTRACT PassageIndex: 1
Evidence Type(s): Diagnostic, Prognostic, Oncogenic
Justification: Diagnostic: The passage discusses the H3 K27M mutation's association with various tumor types, indicating its role in defining and classifying these tumors, particularly in pediatric and adult cohorts. Prognostic: The passage mentions survival outcomes for patients with H3 K27M-mutant tumors, comparing mean survival times between adults and pediatric patients, which indicates a correlation with disease outcome. Oncogenic: The H3 K27M mutation is described as contributing to tumor development in various glioma types, indicating its role as a somatic variant involved in tumor progression.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
MIB-1 labeling indices correlated with the diagnosis and grade assigned prior to H3 K27M IHC testing (Table 1). For the adult cohort, 1 case met WHO criteria for diffuse astrocytoma, WHO grade II (MIB-1 < 1%), 7 cases me
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 6
Evidence Type(s): Diagnostic
Justification: Diagnostic: The passage discusses the correlation of MIB-1 labeling indices with the diagnosis and grade of tumors, indicating that the K27M variant is associated with specific tumor classifications.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
The known lower frequency of ATRX mutation/loss of ATRX nuclear immunostaining in only 10 - 15% of H3 K27M-mutant tumors makes this feature less amenable to comparisons between the 2 cohorts. However, of the 7 adult case
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 5
Evidence Type(s): None
Justification: Not enough information in this passage.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
Four cases had other morphologies at initial biopsy, including pure GG (n = 3, pediatric) and PA (n = 1, adult) histologies. One of the GGs was a 16-year-old girl with an original biopsy demonstrating a pure thalamic GG
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 4
Evidence Type(s): Oncogenic
Justification: Oncogenic: The passage discusses the transformation of tumors associated with the K27M variant, indicating its role in tumor development and progression, particularly in the context of glioblastoma transformation.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
Table 1 summarizes the ages, gender, anatomical location, initial histological diagnoses, and p53 IHC labeling indices discerned prior to H3 K27M IHC in the 28 H3 K27M-mutant tumors identified in our databases. There wer
[Paragraph-level] PMCID: PMC5822176 Section: RESULTS PassageIndex: 2
Evidence Type(s): Diagnostic, Oncogenic
Justification: Diagnostic: The passage discusses the identification of H3 K27M-mutant tumors and provides demographic information, indicating that the variant is associated with specific histological diagnoses and patient characteristics. Oncogenic: The mention of H3 K27M in the context of tumors suggests that this somatic variant contributes to tumor development or progression, as it is identified in mutant tumors.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M
Background: H3 K27M mutation was originally described in pediatric diffuse intrinsic pontine gliomas (DIPGs), but has been recently recognized to occur also in adult midline diffuse gliomas, as well as midline tumors wit
[Paragraph-level] PMCID: PMC5822176 Section: ABSTRACT PassageIndex: 1
Evidence Type(s): Diagnostic, Prognostic, Oncogenic
Justification: Diagnostic: The passage discusses the H3 K27M mutation's association with various tumor types, indicating its role in defining and classifying these tumors, particularly in pediatric and adult cohorts. Prognostic: The passage mentions survival outcomes for patients with H3 K27M-mutant tumors, comparing mean survival times between adults and pediatric patients, which indicates a correlation with disease outcome. Oncogenic: The H3 K27M mutation is described as contributing to tumor development in various glioma types, indicating its role as a somatic variant involved in tumor progression.
Gene→Variant (gene-first): 3417:K27M
Genes: 3417
Variants: K27M