Cancer Family
Hematopoietic and Lymphoid Cell Neoplasm
CI-CAN-00000023Explore in graph →
HematologicNon-malignant4,231 active trials98 approved drugs1,009 evidence items
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Cancer Family
CI-CAN-00000023Explore in graph →
Variants & evidence
2,011 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 |
|---|---|---|---|---|---|---|---|---|
| NOTCH1 Mutation2 | ||||||||
| 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 |
| 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 |
| KIT D816V3 | ||||||||
| Imatinib | Systemic Mastocytosis | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID11158In this open-label phase II study, 20 patients with systemic mastocytosis (SM) were recruited between 2003 and 2005. Seven of 20 patients were KIT D816V mutation-negative. Among these, one patient wit… (full text at CIViC) PMID 19193436 · Vega-Ruiz et al., 2009 · Open in CIViC | civic |
| Imatinib Mesylate | Systemic Mastocytosis | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID11367In this case report, a 24-year-old female patient with systemic mastocytosis (SM) and without KIT D816V mutation was treated with imatinib at a 400mg dose/daily. The patient showed excellent clinical… (full text at CIViC) PMID 27741105 · Huang et al., 2016 · Open in CIViC | civic |
| 〃 | Systemic Mastocytosis | Predictive | C | Supports Sensitivity Response | 1 | |||
| KIT D816V + KIT F522C1 | ||||||||
| Imatinib Mesylate | Systemic Mastocytosis | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11366In this case report, a 25-year-old female patient, with a history of cutaneous mastocytosis at age 5 months, was presented for evaluation of systemic mastocytosis (SM). The patient went through 5 mon… (full text at CIViC) PMID 15070706 · Akin et al., 2004 · Open in CIViC | civic |
| KIT D816F + KIT D816V + KIT D816Y + KIT V560G2 | ||||||||
| Imatinib Mesylate | Systemic Mastocytosis | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID11163In this phase IV clinical trial, ten patients with systemic mastocystosis (SM) were recruited to test efficacy and safety of imatinib. Nine patients fulfilled criteria for well-differentiated SM (WDSM… (full text at CIViC) PMID 28978170 · Alvarez-Twose et al., 2017 · Open in CIViC | civic |
| 〃 | Systemic Mastocytosis | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11162In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC) PMID 11861291 · Ma et al., 2002 · Open in CIViC | civic |
| KIT D816V + PDGFRB FusionKITPDGFRB1 | ||||||||
| Imatinib Mesylate | Systemic Mastocytosis | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11368In this case report, a 61 yearl-old male patient was diagnosed with systemic mastocytosis (SM). Genetic screening for KIT mutaitons, including the D816V mutation, was negative. FISH analysis showed a … (full text at CIViC) PMID 18166785 · Lahortiga et al., 2008 · 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 |
| NPM1 EXON 11 MUTATION30 | ||||||||
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | A | Supports Positive | 5 | accepted | EID116AML with mutated NPM1 is a provisional entity in the World Health Organization (WHO) classification of acute myeloid leukemia (AML). This mutation should be tested for in clinical trials and is recomm… (full text at CIViC) PMID 19357394 · Vardiman et al., 2009 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 5 | accepted | EID176Complete remission rates were higher (70.5% vs 54.7%, P = 0.003) and event-free survival was longer (median, 428 vs 336 days; P = 0.012) for normal karyotype AML patients (median age 60.3 years) with … (full text at CIViC) PMID 16076867 · Schnittger et al., 2005 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | |||||||
Data updated 18 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.
| submitted |
EID11164In this case report, a 56 y/o female patient with normal karyotyping and no KIT mutation was diagnosed with systemic mastocytosis associated with MDS/MPN . Treatment with imatinib was initiated at a d… (full text at CIViC) PMID 35096623 · Barozzi et al., 2021 · Open in CIViC |
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| Diagnostic |
| B |
| Supports Negative |
| 4 |
| accepted |
EID111NPM1 mutations were not associated with the M2 FAB subtype of acute myeloid leukemia. PMID 16076867 · Schnittger et al., 2005 · Open in CIViC |
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| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 4 | accepted | EID118NPM1 mutations were associated with M4, M5a and M5b FAB subtypes of acute myeloid leukemia. PMID 16076867 · Schnittger et al., 2005 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID173NPM1 mutation without FLT3-ITD was associated with reduced relapse risk and increased overall survival in young adult acute myeloid leukemia patients (median age 43). PMID 17957027 · Gale et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID181NPM1 mutation (N=724) was associated with higher complete remission rates (92% vs 82%; P < 0.0001), lower cumulative incidence of relapse (42% vs 58%; P < 0.0001) and higher overall survival (48% vs 2… (full text at CIViC) PMID 24855211 · Linch et al., 2014 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID184NPM1 mutations were associated with increased complete remission rates as well as longer overall disease free survival in normal karyotype AML patients >59 years old, particularly in those >69 years o… (full text at CIViC) PMID 20026798 · Becker et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1102Peripheral blood from NPM1 mutated AMLs was assessed for NPM1 mutation status at multiple time points using RT-qPCR with primers designed to amplify different mutant NPM1 transcripts. The test develop… (full text at CIViC) PMID 26789727 · Ivey et al., 2016 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | accepted | EID119NPM1 mutations were associated with M5a and M5b FAB subtypes of acute myeloid leukemia. PMID 16455956 · Thiede et al., 2006 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | accepted | EID120NPM1 mutations were associated with normal karyotype in older (>60) patients. PMID 19059939 · Schlenk et al., 2009 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID174Patients with NPM1 mutations were associated with improved complete remission rates as well as overall and disease free survival when all ages and karyotype were analyzed; however, when only normal ka… (full text at CIViC) PMID 19059939 · Schlenk et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID175Complete remission rates were higher (P<0.001) and both disease-free survival (N=205 vs 352, P=0.041) and overall survival (N=372 vs 956, P=0.022) were longer for AML patients with Exon 12 NPM1 mutati… (full text at CIViC) PMID 16455956 · Thiede et al., 2006 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID177Cytoplasmic localization of NPM in AML patients was an independent prognositic factor associated with complete remission in response to induction therapy in a multivariate analysis (p=0.019) but not i… (full text at CIViC) PMID 15659725 · Falini et al., 2005 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID180Normal karyotype patients with NPM1 mutation and without FLT3-ITD had improved overall and relapse-free survival, complete remission rates and remission duration compared to all other combinations of … (full text at CIViC) PMID 19047294 · Büchner et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID182NPM1 mutation was associated with increased overall, event-free and relapse-free survival and remission after induction therapy in the entire cohort and in the cytogenetically normal subset of patient… (full text at CIViC) PMID 22430270 · Gaidzik et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID183In young patients (age 16-60) with previously untreated, cytogenetically normal acute myeloid leukemia, NPM1 mutation without FLT3-ITD was significantly associated with complete remission in multivari… (full text at CIViC) PMID 18450602 · Schlenk et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID185Younger (16-60), normal karyotype AML patients with Exon 12 NPM1 mutation and without FLT3-ITD have increased overall survival (N=74, P = .001), relapse-free survival (N=86, P < .001) and response to … (full text at CIViC) PMID 16051734 · Döhner et al., 2005 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID199TET2 mutation reduces overall survival of normal karyotype patients with either an NPM1 mutation or NPM1 mutation without FLT3-ITD. PMID 24859829 · Tian et al., 2014 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support Better Outcome | 3 | accepted | EID1369In normal karyotype patients with AML (15-65 years old), complete remission rates and overall, event-free and relapse-free survival were not different for patients harboring NPM1 exon 12 mutations (N=… (full text at CIViC) PMID 16046528 · Boissel et al., 2005 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 2 | accepted | EID117NPM1 mutations were associated with de novo AML as well as M4 and M5 FAB subtypes. PMID 17957027 · Gale et al., 2008 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 2 | accepted | EID179Intermediate risk patients with mutant NPM1 had improved overall survival with the presence of either IDH1 or IDH2 mutations than those wildtype for both IDH1 and IDH2. PMID 22417203 · Patel et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID196Monitoring NPM1 mutation by cDNA-based RT-PCR effectively predicted relapse in 62/93 patients by >1 log increase in NPM1 levels (N=57) or lack of reduction in NPM1 levels following first line therapy … (full text at CIViC) PMID 19587375 · Schnittger et al., 2009 · Open in CIViC | civic |
| Anti-CD33 | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | E | Supports Sensitivity Response | 2 | accepted | EID151CD33 expression was significantly increased in patients with NPM1 mutation with or without FLT3-ITD, indicating these patients may respond to anti-CD33 therapy. PMID 24927407 · Ehninger et al., 2014 · Open in CIViC | civic |
| Anti-CD123 + Anti-CD33Combination | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | E | Supports Sensitivity Response | 2 | accepted | EID150CD33 and CD123 expression was significantly increased in patients with NPM1 mutation with FLT3-ITD, indicating these patients may respond to combined anti-CD33 and anti-CD123 therapy. PMID 24927407 · Ehninger et al., 2014 · Open in CIViC | civic |
| Daunorubicin | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID147Young patients (18-60) with NPM1 mutations had improved overall survival following high-dose versus standard dose daunorubicin (p=0.01) in univariate analysis. However, the adjusted p-value for multip… (full text at CIViC) PMID 22417203 · Patel et al., 2012 · Open in CIViC | civic |
| NSC348884 + TretinoinCombination | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID149NSC348884 combined with ATRA treatment induces apoptosis in primary AML cells harboring mutant NPM1 but not in cells with wildtype NPM1 or both mutant NPM1 and FLT3-ITD. PMID 21719597 · Balusu et al., 2011 · Open in CIViC | civic |
| Revumenib | Acute Myeloid Leukemia with NPM1 MutationALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID13286In the phase 2 portion of AUGMENT-101 (NCT04065399), an open-label, single-arm, multicentre study, patients with relapsed or refractory NPM1-mutated acute myeloid leukaemia received the oral menin inh… (full text at CIViC) PMID 40332046 · Arellano et al., 2025 · Open in CIViC | civic |
| Tretinoin | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 3 | accepted | EID137ATRA treatment plus chemotherapy (daunorubicin, Ara-C, and thioguanine, N=113) did not effect overall survival in patients <60 years old with NPM1 mutation regardless of FLT3-ITD status compared to ch… (full text at CIViC) PMID 19965647 · Burnett et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID146ATRA treatment improved overall and relapse-free survival in older (>60) patients with mutant NPM1 and without FLT3-ITD. PMID 19059939 · Schlenk et al., 2009 · Open in CIViC | civic |
| Valproic Acid | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID148For patients with NPM1 mutation that achieved CR following induction therapy, relapse-free survival was improved following treatment with valproic acid. PMID 24797300 · Tassara et al., 2014 · Open in CIViC | civic |