Cancer Family
Lymphocytic Neoplasm
CI-CAN-00000223Explore in graph →
- NCIt
- C7065
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Cancer Family
CI-CAN-00000223Explore in graph →
Variants & evidence
788 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 |
|---|---|---|---|---|---|---|---|---|
| BCL2 Translocation + BCL6 Translocation + MYC TranslocationMYCBCL2BCL61 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 2 | submitted | EID9813In 2016 the WHO added a new category of lymphoma, separate from diffuse large B-cell lymphoma, termed high-grade B-cell lymphoma with MYC AND [BCL2 OR BCL6] translocations. These represent less than 1… (full text at CIViC) PMID 28600333 · Friedberg, 2017 · Open in CIViC | civic |
| MYD88 L265P4 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID9376A meta-analysis of 40 published studies on 2736 DLBCL patients. The MYD88 L265P mutation was significantly associated with old age and poor overall survival, but not with sex and clinical stage. This … (full text at CIViC) PMID 28496180 · Lee et al., 2017 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Better Outcome | 2 | accepted | EID1489MYD88 mutations were identified in 24 of 1080 screened CLLs. They were exclusively seen in instances of mutated IGHV genes (18/23, P = 0.0001), a widely recognized prognostic signature for better out… (full text at CIViC) PMID 24943832 · Baliakas et al., 2015 · Open in CIViC | civic |
| Ibrutinib | Lymphoplasmacytic Lymphoma | Predictive | B | Supports | ||||
| NFKBIA Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11967This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| NFKBIE Mutation2 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11904Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including NFKBIE. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11966This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| NFKBIZ 3-prime UTR mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11968The 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 30275490 · Arthur et al., 2018 · Open in CIViC | civic |
| 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 Mutation9 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | A | Supports Poor Outcome | 5 | accepted | EID1538In a study of 406 previously untreated CLL cases, a multivariate analysis indicated clonal NOTCH1 mutations (N=55) were significantly associated with reduced overall survival (HR: 1.5; 95%CI: 1.13-1.9… (full text at CIViC) PMID 26837699 · Nadeu et al., 2016 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Does Not Support Poor Outcome | 5 | accepted | EID1486In a multivariate analysis of 774 CLL patients, NOTCH1 mutations were not significantly correlated with shorter time to first treatment (HR=1.305; 95% CI=0.923-1.847). PMID 24943832 · Baliakas et al., 2015 · Open in CIViC | civic |
| 〃 | Mantle Cell Lymphoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | ||
| NOTCH1 P2514FS2 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1014NOTCH1 mutations were found to be associated with worse overall survival (3.77-fold increase in the hazard of death, P < .001) in a series of 309 newly diagnosed CLL and confirmed in an additional set… (full text at CIViC) PMID 22077063 · Rossi et al., 2012 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID495In a cohort of 120 patients with chronic lymphoytic leukemia, those with P2515 frameshift deletions in NOTCH1 at diagnosis had worse overall and treatment free survival. NOTCH1 mutations were also fou… (full text at CIViC) PMID 21670202 · Fabbri et al., 2011 · Open in CIViC | civic |
| 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 K359Q3 | ||||||||
| (prognostic) | Acute Lymphoblastic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID667The K359Q somatic mutation was significantly correlated with early disease recurrence and relapse in 103 T-cell ALL regardless of treatment course. The data was obtained from Berlin Frankfurt Münster … (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 | 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 | ||||||||
| NT5C2 Mutation1 | ||||||||
| (prognostic) | Childhood Acute Lymphoblastic LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID7818Within a cohort of 71 pediatric B-ALL relapse cases, all 7 patients with NT5C2 mutations detected at relapse demonstrated early relapse (<36 months from initial diagnosis) with a median time to relaps… (full text at CIViC) PMID 23377183 · Meyer et al., 2013 · Open in CIViC | civic |
| NT5C2 R238W4 | ||||||||
| (prognostic) | Childhood Acute Lymphoblastic LeukemiaALIAS | Prognostic | C | Supports Poor Outcome | 2 | accepted | EID786371 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed 3 early relapse cases with NT5C2 R238W enrich… (full text at CIViC) PMID 23377183 · Meyer et al., 2013 · Open in CIViC | civic |
| Cytarabine + Doxorubicin + Gemcitabine + PrednisoloneSubstitutes | Childhood Acute Lymphoblastic LeukemiaALIAS | Predictive | D | Does Not Support Resistance | 4 | accepted | EID7816Overexpression of NT5C2 R238W in Reh cells resulted in no change in response to cytarabine, gemcitabine, doxorubicin or prednisolone versus wildtype or GFP controls as indicated by similar apoptosis. PMID 23377183 · Meyer et al., 2013 · Open in CIViC | civic |
Data updated 20 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.
| 4 |
| accepted |
EID986A prospective study of ibrutinib in 63 symptomatic patients with Waldenström's macroglobulinemia who had received at least one previous treatment. The response rates were highest among patients with M… (full text at CIViC) PMID 25853747 · Treon et al., 2015 · Open in CIViC |
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| IMG-2005-5 + IRAK-1/4 InhibitorSubstitutes | Lymphoplasmacytic Lymphoma | Predictive | D | Supports Sensitivity Response | 1 | accepted | EID1641In a study of 30 patients with Waldenström’s macroglobulinemia, 87% had MYD88(L265P) mutations. Waldenstrom macroglobulinemia cells expressing MYD88(L265P) were treated with an MYD88 homodimerization… (full text at CIViC) PMID 22931316 · Treon et al., 2012 · Open in CIViC | civic |
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 |
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| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1479In the randomized UK LRF CCL4 phase 3 trial comparing first-line treatment with chlorambucil, fludarabine, or fludarabine plus cyclophosphamide, univariate analysis of patients with NOTCH1 mutations (… (full text at CIViC) PMID 23086750 · Oscier et al., 2013 · 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. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| 〃 | 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 |
| 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 |
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| 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 |
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| Mercaptopurine + ThioguanineSubstitutes | Childhood Acute Lymphoblastic LeukemiaALIAS | Predictive | D | Supports Resistance | 4 | accepted | EID7813Lentiviral-mediated overexpression of NT5C2 R238W in Reh cells resulted in significant resistance against thiopurines (mercaptopurine and thioguanine) versus wildtype and GFP controls, as indicated by… (full text at CIViC) PMID 23377183 · Meyer et al., 2013 · Open in CIViC | civic |