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Variants & evidence
1,079 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 |
|---|---|---|---|---|---|---|---|---|
| KIT V560G2 | ||||||||
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | — | submitted | EID4134In an in vitro study, the recombinant KIT V560G mutation kinase was associated with increased sensitivity to bosutinib treatment (IC50: 181nM), as compared to wild-type KIT kinase (IC50: 6313nM). Sens… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | — | submitted | EID4135In an in vitro study, the recombinant KIT V560G mutation kinase was associated with increased sensitivity to dasatinib treatment (IC50: 1.5nM vs 93.0nM), as compared to wild-type KIT kinase. Sensitivi… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| KIT V654A2 | ||||||||
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | — | submitted | EID4149In an in vitro study, the recombinant KIT V654A mutation was associated with increased sensitivity to bosutinib treatment (IC50:132 nM), as compared to wild-type KIT kinase (IC50: 6313 nM). Sensitivi… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | — | submitted | EID4150In an in vitro study, the recombinant KIT V654A mutation was associated with increased sensitivity to dasatinib treatment (IC50: 4.2nM vs, 93.0nM), as compared to wild-type KIT kinase. Sensitivity was… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| ABI1 Fusion1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID9750In this study of pediatric cases of acute myeloid leukemia (AML) comparing the prognosis of several recurrent translocation partners for the KMT2A/MLL gene at 11q23, the the specific MLL-ABI1 fusion g… (full text at CIViC) PMID 19528532 · Balgobind et al., 2009 · Open in CIViC | civic |
| AFDN Fusion2 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | submitted | EID9748In this study of pediatric cases of acute myeloid leukemia (AML) comparing the prognosis of several recurrent translocation partners for the KMT2A/MLL gene at 11q23, the specific MLL-AF6 fusion gene (… (full text at CIViC) PMID 19528532 · Balgobind et al., 2009 · Open in CIViC | civic |
| 〃 | Childhood Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8515This is a large international retrospective study of the association between fusion partner and outcome in 756 children with KMT2A-rearranged (also known as MLL-rearranged) AML from 11 study group inc… (full text at CIViC) PMID 19528532 · Balgobind et al., 2009 · Open in CIViC | civic |
| KMT2A Amplification1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | E | Supports Poor Outcome | 2 | submitted | EID10071KMT2A is not a frequent finding. This study evaluate patients with this condition (n= 37 patients) detected by cytogenetics studies in the setting of AML/MDS. All patients showed a complex karyotype. … (full text at CIViC) PMID 31425921 · Sakhdari et al., 2019 · Open in CIViC | civic |
| MLLT10 Fusion1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID9749In this study of pediatric cases of acute myeloid leukemia (AML) comparing the prognosis of several recurrent translocation partners for the KMT2A/MLL gene at 11q23, the specific MLL-AF10 fusion gene … (full text at CIViC) PMID 19528532 · Balgobind et al., 2009 · Open in CIViC | civic |
| MLLT3 Fusion1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | A | Supports Poor Outcome | 4 | submitted | EID8500Based on the 2016 revision to the World Health Organization classification of Myeloid Neoplasms and Acute Leukemia and in Supplemental Table 1 (PMID: 27069254), referencing Balgobind et al (PMID: 1952… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| KMT2A Fusion4 | ||||||||
| (diagnostic) | Acute Myeloid Leukemia with KMT2A RearrangementALIAS | Diagnostic | A | Supports Positive | 4 | accepted | EID1029In this publication, the 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia is discussed. The MLL-MLLT3 translocation, along with other MLL tra… (full text at CIViC) PMID 19357394 · Vardiman et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with KMT2A RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12413In this 2018 study the authors include 1,023 young people diagnosed with acute myeloid leukemia (AML). The age at presentation for the participants ranged from 0 to 29 years (median of 10 years). The … (full text at CIViC) PMID 29227476 · Bolouri et al., 2018 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with KMT2A Rearrangement | |||||||
| LYN OVEREXPRESSION2 | ||||||||
| Bafetinib + DasatinibSubstitutes | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Does Not Support Resistance | 3 | accepted | EID7874The BCR-ABL1 expressing imatinib-resistant cell line MYL-R overexpresses LYN, an SRC family kinase. Dasatinib showed the most potency against MYL-R compared to the non-resistant MYL cell line (IC50: 6… (full text at CIViC) PMID 18191450 · Deguchi et al., 2008 · Open in CIViC | civic |
| Nilotinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 1 | accepted | EID7875The BCR-ABL1 expressing imatinib-resistant cell line MYL-R overexpresses LYN, an SRC family kinase. Nilotinib showed 3.1 times less potency than bafetinib (INNO-406) against MYL-R (IC50: 993.6 nM vs. … (full text at CIViC) PMID 18191450 · Deguchi et al., 2008 · Open in CIViC | civic |
| LYN Y508F2 | ||||||||
| Axitinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | — | submitted | EID4804In an in vitro study, a K562 cell line expressing LYN Y508F mutation demonstrated sensitivity to axitinib treatment, comparable to K562 cells expressing wild-type LYN or vector. Sensitivity was determ… (full text at CIViC) PMID 26912052 · Halbach et al., 2016 · Open in CIViC | civic |
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID4805In an in vitro study, a K562 cell line expressing LYN Y508F mutation demonstrated sensitivity to dasatinib treatment, comparable to K562 cells expressing wild-type LYN or vector. Sensitivity was deter… (full text at CIViC) PMID 26912052 · Halbach et al., 2016 · Open in CIViC | civic |
| 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 |
| MPL Mutation2 | ||||||||
| (diagnostic) | Essential Thrombocythemia | Diagnostic | A | Supports Positive | 5 | submitted | EID6383Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues 2016. PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| (prognostic) | Primary MyelofibrosisALIAS | Prognostic | B | Supports Better Outcome | 5 | submitted | EID7464In a study of activation mutations in MPL were prognostically informative for overall survival. They occur in 4% with ET and 8% with Primary Myelofibrosis. PMID 25037629 · Tefferi et al., 2014 · Open in CIViC | civic |
| MPL S204P1 | ||||||||
| (oncogenic) | Myeloproliferative NeoplasmCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID11008Comprehensive genomic characterization was undertaken in a total of 2035 patients including 1321 patients with essential thrombocythemia, 356 with polycythemia vera, 309 with myelofibrosis, and 49 wit… (full text at CIViC) PMID 30304655 · Grinfeld et al., 2018 · Open in CIViC | civic |
| MPL W515L1 | ||||||||
| (oncogenic) | Primary MyelofibrosisALIAS | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID7221Found MPL W515L mutation in 4/45 MF patients' bone marrow but not cheek DNA. Expression of the mutated gene in cell cultures (BaF3, 3D, or UT-7 cells) resulted increased cell growth, and in mice (via … (full text at CIViC) PMID 16834459 · Pikman et al., 2006 · 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 |
| NPM1 EXON 11 MUTATION21 | ||||||||
| (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 4 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.
| Diagnostic |
| B |
| Supports Positive |
| 4 |
| accepted |
EID12414In this 2024 study the authors included patient data from 1256 children (aged less than 19 years) across 15 different countries diagnosed with KMT2A rearranged acute myeloid leukemia (AML). KMT2A rear… (full text at CIViC) PMID 38621200 · van Weelderen et al., 2024 · Open in CIViC |
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| 〃 | Acute Myeloid Leukemia with KMT2A RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12415In this 2023 publication the authors include 3401 KMT2A rearranged leukemia samples obtained from different diagnostic centers worldwide, and subject them to DNA sequence analyses. Of these patients, … (full text at CIViC) PMID 37019990 · Meyer et al., 2023 · Open in CIViC | civic |
| 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 |