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Variants & evidence
12 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|
| TACC3 Fusion1 | |||||||
| Fexagratinib | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID9242Phase II study (NCT02465060) from NCI-MATCH Trial (EAY131) Subprotocol W addressed the use of AZD4547 (an FGFR 1-3 inhibitor) in 48 tumor patients carrying FGFR 1-3 variants. Partial responses were ob… (full text at CIViC) PMID 32463741 · Chae et al., 2020 · Open in CIViC | civic |
| H3-3A K28M3 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 2 | submitted | EID9842Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| 〃 | Diagnostic | C | Supports Positive | 3 | submitted | EID9848Buczkowicz, et al. (2014) analyzed 74 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age at diagnosis 6 years, median survival of 10 months… (full text at CIViC) PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC | civic |
| 〃 | Diagnostic | C | Supports Positive | 2 | submitted | EID9799Kleinschmidt-DeMasters, et al. (2018) analyzed the tumor database for patients with the H3 K27M variant and found 28 cases (including 3 meeting WHO grade I and 25 meeting WHO grade II-IV criteria). Th… | |
| H3C2 K27M1 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 3 | submitted | EID9845Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| MYBL1 Rearrangement3 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 4 | accepted | EID11780Histological, molecular, and clinical analysis of 26 histologically prototypical isomorphic diffuse gliomas with a specific DNA methylation profile distinct from other glial/glio-neuronal brain tumors… (full text at CIViC) PMID 31563982 · Wefers et al., 2020 · Open in CIViC | civic |
| 〃 | Diagnostic | B | Supports Positive | 4 | accepted | EID11781Copy-number analysis was performed on 44 diffuse pediatric low-grade gliomas (PLGGs) to identify recurrent alterations. The most significant event, focal 8q13.1 gain, was observed in 28% (5/18) of dif… (full text at CIViC) PMID 23633565 · Ramkissoon et al., 2013 · Open in CIViC | civic |
| 〃 | Diagnostic | C | Supports Positive | 2 | accepted | EID11779Comprehensive molecular studies (through whole genome, whole exome, transcriptome sequencing, genome-wide copy number analysis, clustering analysis by DNA methylation profiling, mutation hotspot analy… | |
| MYB Rearrangement3 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 3 | accepted | EID11777Comprehensive molecular studies (through whole genome, whole exome, transcriptome sequencing, genome-wide copy number analysis, clustering analysis by DNA methylation profiling, mutation hotspot analy… (full text at CIViC) PMID 26810070 · Qaddoumi et al., 2016 · Open in CIViC | civic |
| 〃 | Diagnostic | B | Supports Positive | 3 | accepted | EID11778The study compiled the clinicopathologic and molecular features of 46 gliomas with a MYB or MYBL1 alteration diagnosed at a single center. The tumors showed low-grade histopathologic features and were… (full text at CIViC) PMID 31595312 · Chiang et al., 2019 · Open in CIViC | civic |
| 〃 | Diagnostic | C | Supports Positive | 2 | accepted | EID11790A research study performed in 2010 involved 57 pediatric low-grade gliomas (LGGs) and a comparison group of 59 pediatric high-grade gliomas (HGGs). Among the LGG group, there were 34 cases of pilocyti… | |
| NF1 D1644H + NF1 Q1189*1 | |||||||
| Selumetinib | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID12342A 14.6-year-old male [ID: 6] with a family history of neurofibromatosis type 1 (NF1) affecting both parents and a sibling. The patient was asymptomatic at diagnosis, and a biopsy of the left frontal g… (full text at CIViC) PMID 35945463 · Lucas et al., 2022 · Open in CIViC | civic |
Data updated 24 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
PMID 29393845 · Kleinschmidt-DeMasters et al., 2018 · Open in CIViC
| civic |
PMID 26810070 · Qaddoumi et al., 2016 · Open in CIViC
| civic |
PMID 21046410 · Tatevossian et al., 2010 · Open in CIViC
| civic |