Hematologic Malignancy
Acute Leukemia
CI-CAN-00000399Explore in graph →
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Hematologic Malignancy
CI-CAN-00000399Explore in graph →
Variants & evidence
645 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 |
|---|---|---|---|---|---|---|---|---|
| MECOM Overexpression1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8597Clinically, high MECOM (EVI1) expression occurs in approximately 8% of patients with de novo AML. In AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), aberrant MECOM expression is caused by a break poin… (full text at CIViC) PMID 20308656 · Gröschel et al., 2010 · Open in CIViC | civic |
| MECOM rearrangement4 | ||||||||
| (diagnostic) | Acute Myeloid Leukemia with MECOM Rearrangement | Diagnostic | B | Supports Positive | 3 | accepted | EID12399In this study, 17 patients with a variant pericentric inv(3) were identified from an institutional cytogenetics database, out of283 myeloid neoplasms with a MECOM rearrangement (MECOM-R) confirmed b… (full text at CIViC) PMID 36672407 · Tang et al., 2023 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with MECOM Rearrangement | Diagnostic | B | Supports Positive | 3 | accepted | EID12400This study evaluates the frequency of MECOM rearrangements by fluorescence in situ hybridization (FISH) in 76 AML and 21 MDS patients with various 3q chromosomal aberrations. Patients were referred to… (full text at CIViC) PMID 26815134 · Baldazzi et al., 2016 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with MECOM Rearrangement | Diagnostic | B | |||||
| MECOM t(3;21)(q26.2;q22)1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 2 | submitted | EID9719t(3;21)(q26.2;q22) is a rare variant of AML, occurring in approximately 1% of cases. It carries a very poor prognosis with none of the reported patients surviving longer than 28 months and with an ave… (full text at CIViC) PMID 22706870 · Li et al., 2012 · Open in CIViC | civic |
| CSF1R Fusion1 | ||||||||
| GW-2580 + ImatinibSubstitutes | Acute Lymphoblastic Leukemia | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID403Cell lines with MEF2D-CSF1R fusion show sensitivity to the tyrosine kinase inhibitors Imatinib and GW-2580. PMID 24186003 · Lilljebjörn et al., 2014 · Open in CIViC | civic |
| MEF2D MEF2D Rearrangement1 | ||||||||
| (prognostic) | B Acute Lymphoblastic LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8624MEF2D encodes myocyte enhancer factor 2D and is mapped to chromosome 1q21–22. It is expressed throughout B-cell differentiation and inactivation of Mef2c/d results in an arrest in B-lymphoid maturatio… (full text at CIViC) PMID 27824051 · Gu et al., 2016 · Open in CIViC | civic |
| MEN1 G326D1 | ||||||||
| Revumenib + VTP-50469Substitutes | Acute Leukemia | Predictive | B | Supports Resistance | 2 | submitted | EID12737Tumor DNA sequencing identified MEN1 mutations at several residues in the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified a total of 4 patients fro… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC | civic |
| 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 |
| 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 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 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 MUTATION22 | ||||||||
| (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 1 hour 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.
| 3 |
| accepted |
EID12401In this study, samples from 33 patients presenting with AML or MDS were collected from either the Erasmus Hematology Department biobank (The Netherlands) or from the Munich Leukemia Laboratory (German… (full text at CIViC) PMID 32219447 · Ottema et al., 2020 · Open in CIViC |
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| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID13307This retrospective study from the I-BFM AML study group included 59 patients aged 0–21 years with de novo AML harboring a MECOM rearrangement (inv(3)/t(3;3) or other 3q26 rearrangements), diagnosed be… (full text at 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 |