Cancer Family
Leukemia
CI-CAN-00000215Explore in graph →
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Cancer Family
CI-CAN-00000215Explore in graph →
Variants & evidence
1,279 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 |
|---|---|---|---|---|---|---|---|---|
| MEN1 G326R1 | ||||||||
| Revumenib + VTP-50469Substitutes | Acute Leukemia | Predictive | B | Supports Resistance | 3 | submitted | EID12734Tumor DNA sequencing identified the MEN1 G326R (aka G331R) variant in one patient (#2, who also had a MEN1 M322I) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting fiv… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC | civic |
| MEN1 M322I1 | ||||||||
| Revumenib + VTP-50469Substitutes | Acute Leukemia | Predictive | B | Supports Resistance | 3 | submitted | EID12730Tumor DNA sequencing identified the MEN1 M322I (aka M327I) variant in two patients (#5 & 6) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified … (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC | civic |
| MEN1 M322V1 | ||||||||
| Revumenib + VTP-50469Substitutes | Acute Leukemia | Predictive | D | Supports Resistance | 2 | submitted | EID12728Tumor DNA sequencing identified the MEN1 M322V (aka M327V) variant in two patients (#1 & 3) with KMT2A rearranged AML on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targetin… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC | civic |
| MEN1 Mutation1 | ||||||||
| Revumenib | Acute Leukemia | Predictive | B | Supports Resistance | 4 | submitted | EID12717In follow up analyses of the AUGMENT-101 trial of revumenib in patients with acute leukemia, the authors identify MEN1 variants in bone marrow specimens obtained after treatment. These variants were n… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC | civic |
| MEN1 S155C1 | ||||||||
| VTP-50469 | Acute Leukemia | Predictive | D | Supports Resistance | 2 | submitted | EID12742The S155C (S160C) variant was detected in one of 22 patient derived xenograft of several AML models after long term treatment with the MENIN inhibitor VTP-50469. In this graft, it co-occured with a M… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC | civic |
| MEN1 S155T1 | ||||||||
| Revumenib + VTP-50469Substitutes | Acute Leukemia | Predictive | C | Supports Resistance | 2 | submitted | EID12741Tumor DNA sequencing identified the MEN1 S155T (aka S160T) variant in one patient (#3, who also had a MEN1 M322V) on the AUGMENT-101 phase 1 trial of Revumenib. The S155T variant was NOT detected in a… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC | civic |
| MEN1 T344M1 | ||||||||
| Revumenib + VTP-50469Substitutes | Acute Leukemia | Predictive | B | Supports Resistance | 4 | submitted | EID12733Tumor DNA sequencing identified the MEN1 T344M (aka T349M) variant in one patient (#4) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified a tot… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC | civic |
| GATA1 Fusion1 | ||||||||
| (diagnostic) | Acute Basophilic Leukemia | Diagnostic | C | Supports Positive | 3 | submitted | EID7217Acute basophilic leukemia is a very rare subtype of acute myeloid leukemia. This study reports 4 cases of ABL with a t(X;6)(p11;q23) translocation occurring in male infants. Authors performed multiple… (full text at CIViC) PMID 21474671 · Quelen et al., 2011 · Open in CIViC | civic |
| MYD88 L265P1 | ||||||||
| (prognostic) | 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 |
| FLT3 Fusion1 | ||||||||
| (diagnostic) | Atypical Chronic Myeloid LeukemiaALIAS | Diagnostic | C | Supports Positive | 4 | submitted | EID13106This study describes a novel MYO18A::FLT3 fusion in a 47-year-old male with mixed myelodysplastic/myeloproliferative features. He presented with leukocytosis, splenomegaly, and atypical chronic myeloi… (full text at CIViC) PMID 30559310 · Zhang 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 Mutation5 | ||||||||
| (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 |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 2 | 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 |
| NPM1 EXON 11 MUTATION24 | ||||||||
| (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 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.
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 |
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| 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 |
| 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 |