Hematologic Malignancy
Lymphoid Neoplasm
CI-CAN-00009335Explore in graph →
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Hematologic Malignancy
CI-CAN-00009335Explore in graph →
Variants & evidence
638 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 |
|---|---|---|---|---|---|---|---|---|
| NOL9 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11969The authors performed an integrative analysis of genomes, exomes and transcriptome data from DLBCL and identified recurrent coding and non-coding loci that are commonly mutated in DLBCL PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| NOTCH1 F1592C1 | ||||||||
| Prednisone | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2852In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
| NOTCH1 F1592S1 | ||||||||
| Prednisone | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2821In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
| NOTCH1 L1574P1 | ||||||||
| Prednisone | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2691In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
| NOTCH1 L1574Q1 | ||||||||
| Prednisone | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2826In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
| NOTCH1 L1585R1 | ||||||||
| Prednisone | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2823In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
| NOTCH1 L1600P1 | ||||||||
| Prednisone | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2690In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
| NOTCH1 L1600Q1 | ||||||||
| Prednisone | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2822In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
| NOTCH1 L1678P1 | ||||||||
| Nirogacestat | Adult T-Cell Leukemia/Lymphoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID5921Genetic evaluation of a single patient with a complete response in a phase 1 trial of PF-03084014 revealed the presence of a known activating NOTCH1 mutation, L1678P. PMID 26407235 · Papayannidis et al., 2015 · Open in CIViC | civic |
| NOTCH1 Mutation6 | ||||||||
| (prognostic) | Mantle Cell Lymphoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID49414 out of 121 patient samples contained mutations in NOTCH1. Those with mutations had worse overall survival than wild-type (median OS, 1.43 years vs. 3.86 years). PMID 22210878 · Kridel et al., 2012 · Open in CIViC | civic |
| 〃 | Mantle Cell Lymphoma | Prognostic | E | Supports Poor Outcome | 4 | submitted | EID11895This study confirmed clinical associations between TP53 and NOTCH1 with poor outcome. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11900Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including NOTCH1. | |
| NOTCH1 V1577A1 | ||||||||
| Prednisone | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2824In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
| NOTCH1 V1577E1 | ||||||||
| Prednisone | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2825In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
| NOTCH2 Mutation2 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11902Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including NOTCH2. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11971This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| ALK Fusion2 | ||||||||
| Crizotinib | Anaplastic Large Cell Lymphoma | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID1241In the second part of this Phase I study NCT00939770, nine patients between the ages of 12 months and 22 years with anaplastic large cell lymphoma (ALCL), who were refractory to treatment and for whom… (full text at CIViC) PMID 23598171 · Mossé et al., 2013 · Open in CIViC | civic |
| 〃 | Anaplastic Large Cell Lymphoma | Predictive | D | Supports Sensitivity Response | 5 | accepted | EID1239NPM-ALK in anaplastic large cell lymphoma (ALCL) was the first ALK-fusion to be discovered and characterized. In this study, targeted activity against NPM-ALK by the ALK and MET inhibitor crizotinib … (full text at CIViC) PMID 18089725 · Christensen et al., 2007 · Open in CIViC | civic |
| ALK I1171N + ALK Fusion1 | ||||||||
| Crizotinib | Anaplastic Large Cell Lymphoma | Predictive | D | Supports Resistance | 2 | submitted | EID4632In an in vitro study, cell lines expressing NPM-ALK I1171N, SUPM2CR03 (endogenous expression) and Ba/F3 (overexpression), demonstrated resistance to crizotinib treatment (IC50: 338 nmol/L and IC50: 21… (full text at CIViC) PMID 23239810 · Ceccon et al., 2013 · Open in CIViC | civic |
| ALK I1171S + ALK Fusion1 | ||||||||
| Crizotinib | Anaplastic Large Cell Lymphoma | Predictive | D | Supports Resistance | 3 | submitted | EID12653In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK I1171S co-mutation, demonstrated resistance to crizotinib treatment (IC50: 345.03… (full text at CIViC) PMID 27009859 · Amin et al., 2016 · Open in CIViC | civic |
| ALK T1151M + ALK Fusion1 | ||||||||
| Ceritinib | Anaplastic Large Cell Lymphoma | Predictive | D | Supports Resistance | 3 | submitted | EID12659In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK T1151M co-mutation, demonstrated resistance to ceritinib treatment (IC50: 95.78 n… (full text at CIViC) PMID 27009859 · Amin et al., 2016 · Open in CIViC | civic |
| NRAS Mutation1 | ||||||||
| (prognostic) | Multiple Myeloma | Prognostic | B | Supports N/A | 4 | accepted | EID496In patients with multiple myeloma, the presence of a mutation in NRAS was not significantly associated with progression-free or overall survival. PMID 18528420 · Chng et al., 2008 · Open in CIViC | civic |
| NSD2 Mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11898Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including WHSC1 (NSD2). PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| NT5C2 D407A2 | ||||||||
| Mercaptopurine + ThioguanineSubstitutes | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | D | Supports Resistance | 4 | accepted | EID632CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 D407A mutation had increased resistance to 6-mercaptopurine and 6-thioguanine treatment than cells expressing wildtype NT5C… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC | civic |
| Arabinosylguanine + NelarabineSubstitutes | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | D | Does Not Support Resistance | 4 | accepted | EID635CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC | |
| NT5C2 K359Q2 | ||||||||
| Arabinosylguanine + NelarabineSubstitutes | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | D | Does Not Support Resistance | 4 | accepted | EID636CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC | civic |
| Mercaptopurine + ThioguanineSubstitutes | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | D | Supports Resistance | 4 | accepted | EID631CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 K359Q mutation had increased resistance to 6-mercaptopurine and 6-thioguanine treatment than cells expressing wildtype NT5C… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC | |
| NT5C2 R238W1 | ||||||||
| Mercaptopurine + ThioguanineSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Resistance | 2 | submitted | EID8077Lentiviral-mediated overexpression of NT5C2 R238W (a relapse specific variant) in Reh cells resulted in resistance against thiopurines (mercaptopurine and thioguanine) compared to NT5C2 wildtype overe… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| NT5C2 R367Q3 | ||||||||
| Mercaptopurine + ThioguanineSubstitutes | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | D | Supports Resistance | 4 | accepted | EID630CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 R367Q mutation had increased resistance to 6-mercaptopurine and 6-thioguanine treatment than cells expressing wildtype NT5C… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC | civic |
| Arabinosylguanine + NelarabineSubstitutes | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 4 | rejected | EID634CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (R367Q, R359Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC | |
| ABL1 Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID9079This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a BCR-ABL1-like (Ph-like) gene expression signature. RT-PCR or RNAseq perf… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 1 | submitted | EID11616B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 1 patient (12.1 years old) with a… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| ABL1 Fusion10 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID9148A multicenter, retrospective, cohort study that included 122 pediatric patients (aged 1-18 years) with newly diagnosed ABL-class fusion B-cell acute lymphocytic leukemia who had not received tyrosine-… (full text at CIViC) PMID 33357483 · den Boer et al., 2021 · Open in CIViC | civic |
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID9074Transcriptome and whole genome sequencing were performed on 15 cases of B-lymphoblastic leukemia/lymphoma (B-ALL) that were previously shown to have a BCR-ABL1-like (Ph-like) expression signature. Two… (full text at CIViC) PMID 22897847 · Roberts et al., 2012 · Open in CIViC | civic |
| Dasatinib | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | ||||||
| JAK2 Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID7997To identify potentially druggable kinase fusions, this study of 278 B-ALL patients (all BCR-ABL1 negative), 34 (12.2%) harbored an IKZF1 deletion as determined by MLPA. Sufficient RNA from 16/34 of th… (full text at CIViC) PMID 26404892 · Yano et al., 2015 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID8104In this study involving 373 high risk pediatric B-ALL cases with no recurrent fusions, 29 were kinase-fusion positive as determined by mRNA-seq or mRT-PCR and validated by RT-PCR and Sanger. One case,… (full text at CIViC) PMID 27176795 · Imamura et al., 2016 · Open in CIViC | civic |
| OSBPL10 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11972This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| CRLF2 Fusion1 | ||||||||
| (prognostic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID7211CRLF2 overexpression was examined in 90 adult B-ALL patients with demographic data that lacked characteristic rearrangements and identified overexpression in 15/90 (16.67%). Disease-free survival was … (full text at CIViC) PMID 20018760 · Yoda et al., 2010 · Open in CIViC | civic |
Data updated 6 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 32160292 · Pararajalingam et al., 2020 · Open in CIViC
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| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11970This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| Prednisone | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2692In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
| 〃 | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID2693In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC | civic |
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| 〃 | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Predictive | D | Does Not Support Resistance | 4 | accepted | EID633CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC | civic |
| Supports Sensitivity Response |
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EID13328Of 40 patients with BCR::ABL1-like (Ph-like) B-cell acute lymphoblastic leukemia (B-ALL), one 16-year-old male was found to have a NUP214::ABL1 fusion identified by genomic profiling (RT-PCR, next-gen… (full text at CIViC) PMID 25049327 · Roberts et al., 2014 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID13327A 26-year-old female with Philadelphia chromosome-like (Ph-like) B-cell acute lymphoblastic leukemia (B-ALL) had a NUP214::ABL1 fusion detected by a next-generation sequencing panel experienced persis… (full text at CIViC) PMID 31014138 · Aldoss et al., 2019 · Open in CIViC | civic |
| Dasatinib + ImatinibSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID12385Functional activity and treatment response were evaluated for several fusions identified in patients with gene expression profiles showing BCR::ABL1-like B-ALL. Phosphoflow on leukemic samples from 2 … (full text at CIViC) PMID 22897847 · Roberts et al., 2012 · Open in CIViC | civic |
| Dasatinib + NilotinibSequential | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID13329A 21-year-old patient with refractory B-cell acute lymphoblastic leukemia (B-ALL) had a NUP214::ABL1 fusion identified by clinical next-generation sequencing failed multiple prior treatment regimens, … (full text at CIViC) PMID 37933765 · Shumock et al., 2023 · Open in CIViC | civic |
| Dasatinib + Dexamethasone + VincristineCombination | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID7208A 15-year-old girl with B-cell precursor ALL was placed into the very high risk group after showing corticoid resistance on treatment day 8, and induction failure on day 35 (MRD >0.01). The patient re… (full text at CIViC) PMID 26681761 · Duployez et al., 2016 · Open in CIViC | civic |
| Dasatinib + ImatinibCombination | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID13330In a cohort of six patients with NUP214::ABL1-positive Ph-like B-ALL, detected by multiplex molecular assays for fusion transcript identification, including RNA sequencing, treatment with ABL-directed… (full text at CIViC) PMID 31434701 · Tanasi et al., 2019 · Open in CIViC | civic |
| Imatinib Mesylate | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID12218A 15-year-old male was diagnosed with B-cell ALL with a normal male karyotype by microarray (no aberrations >5Mb), normal FISH (including BCR::ABL1 and ABL1 breakapart) and aberrant phenotype B-lympho… (full text at CIViC) PMID 36172171 · Stukaite-Ruibiene et al., 2022 · Open in CIViC | civic |
| Dasatinib + Imatinib + Nilotinib + PonatinibSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Does Not Support Sensitivity Response | 2 | accepted | EID9150A 22-year-old male with B-cell acute lymphoblastic leukemia was treated with induction therapy. FISH using a BCR-ABL1 probe demonstrated 50-80 extrachromosomal copies of ABL1; FISH using probes to the… (full text at CIViC) PMID 23175662 · Eyre et al., 2012 · Open in CIViC | civic |