Cancer Family
Embryonal Neoplasm
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Cancer Family
CI-CAN-00000013Explore in graph →
Variants & evidence
172 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Deletion1 | ||||||||
| (prognostic) | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12836Microarray-based comparative genomic hybridization (aCGH) analysis was carried out on 58 Wilms’ tumor samples. 38 tumors were untreated primary and 20 were recurrent. An increase in copy number change… (full text at CIViC) PMID 17103382 · Natrajan et al., 2007 · Open in CIViC | civic |
| Amplification1 | ||||||||
| (prognostic) | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID1283777 tumors from Wilms Tumor patients were tested with Illumina BeadChip arrays and genomic profiles were tested for association with relapse and other clinicopathological variables. Copy number gain at… (full text at CIViC) PMID 22407497 · Perotti et al., 2012 · Open in CIViC | civic |
| Deletion1 | ||||||||
| (prognostic) | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12834Anaplastic histology (AH) in Wilm's Tumor is characterized by abnormal mitoses, and associated with poor prognosis in comparison to favorable histology (FH). Array CGH was used on 53 AH samples, and a… (full text at CIViC) PMID 21882282 · Williams et al., 2011 · Open in CIViC | civic |
| ALK Amplification1 | ||||||||
| (prognostic) | Neuroblastoma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID13289In the same Children's Oncology Group analysis of 242 pretherapy high-risk neuroblastoma tumours from the phase III ANBL0532 trial (NCT00567567), ALK amplification was detected in 8 tumours (3.3%) by … (full text at CIViC) PMID 40036726 · Berko et al., 2025 · Open in CIViC | civic |
| ALK Exon 4-11 Deletion1 | ||||||||
| Brigatinib | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1336The MYCN amplification positive relapsed neuroblastoma-derived cell line CLB-BAR contains the driver ALK DEL 11-14 mutation, which removes extracellular domain exons 4 through 11. Brigatinib treatment… (full text at CIViC) PMID 27049722 · Siaw et al., 2016 · Open in CIViC | civic |
| ALK F1174L9 | ||||||||
| Alectinib | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID37CH5424802 (Alectinib) is effective in inhibiting the activity of the F1174L ALK mutant in a kinase activity assay and proliferation assay using neuroblastoma KELLY cells. PMID 21575866 · Sakamoto et al., 2011 · Open in CIViC | civic |
| ALK Inhibitor TAE684 | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID142SH-SY5Y and Kelly cells with mutant ALK (F1174L) and Ba/F3 cells overexpressing ALK harboring the F1174L mutation are sensitive to TAE684-mediated growth inhibition. PMID 18923525 · George et al., 2008 · Open in CIViC | civic |
| AZD3463 | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1327The SH-SY5Y neuroblastoma cell line containing the F1174L ALK mutation was found to undergo cell death when treated with the ALK/IGF1R inhibitor AZD3463. These cells were more sensitive than other neu… | |
| ALK F1245C2 | ||||||||
| Crizotinib | Neuroblastoma | Predictive | C | Supports Resistance | 3 | accepted | EID1333A participant in Children's Oncology Group (COG) study AVDL0912 with measurable neuroblastoma mutated at ALK F1245C was administered crizotinib at 100mg twice daily. The patient showed progressive di… (full text at CIViC) PMID 23598171 · Mossé et al., 2013 · Open in CIViC | civic |
| Lorlatinib | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1330Patient derived xenografts of neuroblastoma Felix cells with F1245C ALK mutation in CB17 SCID mice showed growth inhibition with crizotinib treatment over control, and mice had improved duration of ev… (full text at CIViC) PMID 26554404 · Infarinato et al., 2016 · Open in CIViC | civic |
| ALK F1245V2 | ||||||||
| (diagnostic) | Neuroblastoma | Diagnostic | B | Supports Positive | 3 | rejected | EID3048From a total of 90 patients -54 boys and 36 girls- one case presented with F1245V mutation in primary neuroblastoma tumor, specimens obtained during surgery or biopsy were subjected to copy number sta… (full text at CIViC) PMID 22085494 · Bagci et al., 2012 · Open in CIViC | civic |
| Entrectinib | Neuroblastoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID2987Clinical trial of entrectinib in patients with ALK/ROS/TRK altered tumors. One patient with an ALK F1245V-mutant neuroblastoma achieved a durable, confirmed partial response (PR) lasting 8.3 months. T… (full text at CIViC) PMID 28183697 · Drilon et al., 2017 · Open in CIViC | civic |
| ALK G1128A2 | ||||||||
| (predisposing) | Neuroblastoma | Predisposing | B | Supports Predisposition | 4 | rejected | EID7568A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including G1128A… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predisposing | B | Supports Predisposition | 4 | submitted | EID7570A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including G1128A… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC | civic |
| ALK I1171T1 | ||||||||
| Ceritinib | Neuroblastoma | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID9404This case reports a 16-mo-old boy with metastatic neuroblastoma (stage M). Genomic analysis of a diagnostic biopsy of the tumor and matched normal identified two germline mutations in FANCA and somati… (full text at CIViC) PMID 29907598 · Guan et al., 2018 · Open in CIViC | civic |
| ALK Mutation1 | ||||||||
| (prognostic) | Neuroblastoma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID13288In a Children's Oncology Group correlative study, 242 pretherapy tumours from patients enrolled on the phase III high-risk neuroblastoma trial ANBL0532 (NCT00567567) underwent ultra-deep targeted sequ… (full text at CIViC) PMID 40036726 · Berko et al., 2025 · Open in CIViC | civic |
| ALK R1192P2 | ||||||||
| (predisposing) | Neuroblastoma | Predisposing | B | Supports Predisposition | 4 | rejected | EID7567A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1192P… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predisposing | B | Supports Predisposition | 4 | submitted | EID7569A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1192P… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC | civic |
| ALK R1275Q9 | ||||||||
| (predisposing) | Neuroblastoma | Predisposing | B | Supports Predisposition | 5 | submitted | EID7571A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1275Q… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC | civic |
| ALK Inhibitor TAE684 | Neuroblastoma | Predictive | D | Supports Resistance | 3 | accepted | EID48The SMS-KCNR cell line harboring the R1275Q mutation was resistant to TAE684. PMID 18923525 · George et al., 2008 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID39This study identified previously unknown mutations in the ALK gene in 8% (7/93) of primary neuroblastomas and neuroblastoma cell lines (6/30). R1275Q was found in the germline of one patient sample an… | |
| AMER1 R358X1 | ||||||||
| (diagnostic) | Wilms TumorCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | rejected | EID6079This variant was detected in one patient belonging to the Kenyan Wilms Tumor patient cohort from sub-Saharan Africa. PMID 26274016 · Lovvorn et al., 2015 · Open in CIViC | civic |
| ASCL1 EXPRESSION1 | ||||||||
| (prognostic) | Atypical Teratoid/Rhabdoid Tumor | Prognostic | B | Supports Better Outcome | 5 | submitted | EID7055This retrospective study analyzed the role of ASCL1 expression in the overall prognosis of patients with atypical teratoid rhabdoid tumors. ASCL1 expression was found to correlate with superior 5-year… (full text at CIViC) PMID 25882982 · Torchia et al., 2015 · Open in CIViC | civic |
| ATRX Loss-of-function1 | ||||||||
| (prognostic) | Neuroblastoma | Prognostic | B | Does Not Support Poor Outcome | 3 | submitted | EID13290In a Children's Oncology Group correlative study, 242 pretherapy tumours from patients enrolled on the phase III high-risk neuroblastoma trial ANBL0532 (NCT00567567) underwent ultra-deep targeted sequ… (full text at CIViC) PMID 40036726 · Berko et al., 2025 · Open in CIViC | civic |
| BCOR ITD4 | ||||||||
| (diagnostic) | Central Nervous System Tumor with BCOR Internal Tandem Duplication | Diagnostic | B | Supports Positive | 4 | accepted | EID10800The authors generated genome-wide DNA methylation profiles of 323 tumors with an institutional diagnosis of ‘primitive neuroectodermal tumors of the central nervous system (CNS-PNETs)’, which are hi… (full text at CIViC) PMID 26919435 · Sturm et al., 2016 · Open in CIViC | civic |
| (oncogenic) | Central Nervous System Tumor with BCOR Internal Tandem Duplication | Oncogenic | B | Supports Oncogenicity | 4 | accepted | EID1080410/323 studied high-grade primitive neuroectodermal tumors of the central nervous system (CNS-HGPNETs) clustered together based on their unique methylation profile. 10/10 of those tumors exhibited in… (full text at CIViC) PMID 26919435 · Sturm et al., 2016 · Open in CIViC | civic |
| (diagnostic) | Central Nervous System Tumor with BCOR Internal Tandem Duplication | Diagnostic | B | |||||
| BRD4 Overexpression1 | ||||||||
| JQ1 | Childhood Medulloblastoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID9316Predominantly high-level expression of BRD4 was found in the majority of medulloblastoma cell lines examined (HD-MB3, ONS-76, UW-228, D-341, and D-283); the exception being the Daoy cell line exhibiti… (full text at CIViC) PMID 24231268 · Henssen et al., 2013 · Open in CIViC | civic |
| Amplification1 | ||||||||
| (diagnostic) | Embryonal Tumor with Multilayered Rosettes, C19MC-Altered | Diagnostic | A | Supports Positive | 5 | accepted | EID12389This landmark study contributed to the recognition of embryonal tumor with multilayered rosettes (ETMRs) as a distinct entity in the 2016 WHO classification. Previously, ETMRs were included within the… (full text at CIViC) PMID 19962671 · Li et al., 2009 · Open in CIViC | civic |
| TTYH1::C19MC fusion1 | ||||||||
| (diagnostic) | Embryonal Tumor with Multilayered Rosettes | Diagnostic | A | Supports Positive | 5 | accepted | EID12390This study aimed to identify the mechanism underlying overexpression of a miRNA cluster on chromosome 19q13.4 (C19MC) and its oncogenicity in embryonal tumors with multilayered rosettes (ETMRs). Throu… (full text at CIViC) PMID 24316981 · Kleinman et al., 2014 · Open in CIViC | civic |
| v::C19MC fusion1 | ||||||||
| (diagnostic) | Embryonal Tumor with Multilayered Rosettes | Diagnostic | A | Supports Positive | 5 | accepted | EID12391This cohort study examined the molecular landscape of embryonal tumors with multilayered rosettes (ETMRs) at diagnosis and relapse. ETMRs have previously been shown to frequently (~90%) exhibit amplif… (full text at CIViC) PMID 31802000 · Lambo et al., 2019 · Open in CIViC | civic |
| CASP8 D302H1 | ||||||||
| (prognostic) | Neuroblastoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID165421 SNPs were analyzed using qRT-PCR genotyping assays in 500 Neuroblastoma tumor samples, and the CASP8 D302H missense variant was found to be associated with worse overall survival (P = 0.0006; Q = 0… (full text at CIViC) PMID 25502557 · Rihani et al., 2014 · Open in CIViC | civic |
| CASP8 Overexpression1 | ||||||||
| Conatumumab | Bone Ewing SarcomaALIAS | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID831In-vitro and in-vivo sensitivity to DR5 antibody conatumumab was correlated with expression of caspase-8. PMID 26291055 · Kang et al., 2015 · Open in CIViC | civic |
| CDK9 Overexpression1 | ||||||||
| Dinaciclib | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID7012As shown in Fig. 3a, all six NB cells showed relatively high expression levels of RNAP II, CDK2, and CDK9, suggesting that CDK2 and CDK9 may be ideal targets in NB therapy...Therefore, we hypothesize … (full text at CIViC) PMID 27378523 · Chen et al., 2016 · Open in CIViC | civic |
| CDKN2A Loss1 | ||||||||
| Linsitinib + PalbociclibSubstitutes | Ewing Sarcoma | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1879A patient-derived xenograft (PDX) from a patient with cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) loss and FUS-ERG fusion positive Ewing's sarcoma was created. The PDX was treated in four cohort… (full text at CIViC) PMID 27286459 · Murakami et al., 2016 · Open in CIViC | civic |
| CDKN2B Loss1 | ||||||||
| Linsitinib + PalbociclibSubstitutes | Ewing Sarcoma | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1880A patient-derived xenograft (PDX) from a patient with cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) loss and FUS-ERG fusion positive Ewing's sarcoma was created. The PDX was treated in four cohort… (full text at CIViC) PMID 27286459 · Murakami et al., 2016 · Open in CIViC | civic |
| CTNNB1 D32Y1 | ||||||||
| (prognostic) | Medulloblastoma, WNT-Activated | Prognostic | C | Supports Better Outcome | 3 | submitted | EID9017A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC) PMID 19197950 · Fattet et al., 2009 · Open in CIViC | civic |
Data updated 7 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 26786851 · Wang et al., 2016 · Open in CIViC
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| Crizotinib | Neuroblastoma | Predictive | B | Supports Resistance | — | rejected | EID2344Activating mutations in the (ALK) gene are targeted by the dual-specific tyrosine kinase inhibitor crizotinib. The amino acid substitution F1174L resulted in a reduced response to crizotinib compared … (full text at CIViC) PMID 22072639 · Bresler et al., 2011 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | B | Supports Resistance | — | submitted | EID2345Activating mutations in the (ALK) gene are targeted by the dual-specific tyrosine kinase inhibitor crizotinib. The amino acid substitution F1174L resulted in a reduced response to crizotinib compared … (full text at CIViC) PMID 21838707 · Schönherr et al., 2011 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | C | Does Not Support Sensitivity Response | 3 | accepted | EID1271In a Phase I trial (NCT00939770) of the drug crizotinib in pediatric patients, a subset of 11 neuroblastoma patients were characterized for mutations in ALK. Of these 11 patients, 4 had the F1174L mut… (full text at CIViC) PMID 23598171 · Mossé et al., 2013 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID38High levels of crizotinib can overcome drug resistance of Ba/F3 cells expressing the EML4-ALK fusion containing the F1174L mutation. PMID 21948233 · Heuckmann et al., 2011 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | D | Supports Resistance | 3 | accepted | EID125Cells lines expressing ALK harboring the F1174L mutation are less sensitive to growth inhibition by crizotinib than cells expressing the R1275Q mutation. The authors conclude that this effect should b… (full text at CIViC) PMID 22072639 · Bresler et al., 2011 · Open in CIViC | civic |
| Lorlatinib | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID1329Efficacy of the second generation ALK inhibitor PF-06463922 was tested on ALK mutation F1174L containing neuroblastoma-derived cells. COG-N-453x and SH-SY5Y xenografts showed some inhibition when tre… (full text at CIViC) PMID 26554404 · Infarinato et al., 2016 · Open in CIViC | civic |
PMID 18923525 · George et al., 2008 · Open in CIViC
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| Crizotinib | Neuroblastoma | Predictive | B | Supports Sensitivity Response | — | rejected | EID2341Activating mutations in the (ALK) gene are targeted by the dual-specific tyrosine kinase inhibitor crizotinib. The amino acid substitution R1275Q resulted in an improved response to crizotinib. PMID 22072639 · Bresler et al., 2011 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | B | Supports Sensitivity Response | — | submitted | EID2342Activating mutations in the (ALK) gene are targeted by the dual-specific tyrosine kinase inhibitor crizotinib. The amino acid substitution R1275Q resulted in an improved response to crizotinib. The am… (full text at CIViC) PMID 21838707 · Schönherr et al., 2011 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1269This Phase I study of crizotinib involved a cohort of pediatric neuroblastoma patients between ages 12 months and 22 years. In 11 patients with characterized ALK mutations, 4 had R1275Q mutations, and… (full text at CIViC) PMID 23598171 · Mossé et al., 2013 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1270A cohort of pediatric neuroblastoma patients ages 12 months to 22 years were assessed for response to crizotinib in a Phase I study. 11 patients in this cohort had characterized ALK mutations, 4 of w… (full text at CIViC) PMID 23598171 · Mossé et al., 2013 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID143Cells lines expressing ALK harboring the F1174L mutation are less sensitive to growth inhibition by crizotinib than cells expressing the R1275Q mutation. PMID 22072639 · Bresler et al., 2011 · Open in CIViC | civic |
| Lorlatinib | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID1331In NB-1643 and LAN-5 neuroblastoma cell lines containing R1275Q mutation, PF-06463922 showed 51 and 19 fold greater effect on cell viability over crizotinib treatment respectively. ALK wild-type neuro… (full text at CIViC) PMID 26554404 · Infarinato et al., 2016 · Open in CIViC | civic |
| Supports Positive |
| 3 |
| accepted |
EID1088710 cases of high-grade neuroepithelial tumor (HGNET) with BCOR exon 15 ITD were studied. In addition, 25 previously reported and published patients were included in survival analyses. These tumors ar… (full text at CIViC) PMID 31104347 · Ferris et al., 2020 · Open in CIViC |
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| 〃 | Central Nervous System Tumor with BCOR Internal Tandem Duplication | Diagnostic | B | Supports Positive | 3 | accepted | EID11581Six cases of CNS high-grade neuroepithelial tumor (HGNET) with BCOR exon 15 internal tandem duplication (ITD) were studied. The authors analyzed their clinical, pathologic and molecular characteristic… (full text at CIViC) PMID 29226988 · Yoshida et al., 2018 · Open in CIViC | civic |