Cancer Family
Myeloid Neoplasm
CI-CAN-00000279Explore in graph →
HematologicNon-malignant1,102 active trials29 approved drugs653 evidence items
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Cancer Family
CI-CAN-00000279Explore in graph →
Variants & evidence
1,187 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 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 |
| NPM1 EXON 11 MUTATION31 | ||||||||
| (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 | |||||||
| MLF1 Fusion3 | ||||||||
| (diagnostic) | Acute Myeloid Leukemia with NPM1-MLF1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12130In this 2010 study the authors included 5876 acute myeloid leukemia cases. The median age of the patients was 44 years (range 16 to 59 years). With cytogenetic analysis the t(3;5)(q21∼25;q31∼35) (like… (full text at CIViC) PMID 20385793 · Grimwade et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with NPM1-MLF1ALIAS | Diagnostic | C | Supports Positive | 4 | accepted | EID12129In this 2024 study the authors analyzed RNA sequencing data from 887 pediatric acute myeloid leukemia (AML) cases. The median age of the cohort was 9.3 years (range 0 to 24 years). Oncogenic driver fu… (full text at CIViC) PMID 38212634 · Umeda et al., 2024 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with NPM1-MLF1 | |||||||
| NPM1 MUTATION5 | ||||||||
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | A | Supports Positive | 5 | submitted | EID8596In the the 2008 World Health Organization (WHO) classification of acute myeloid leukemia (AML), AML with mutated NPM1 was considered as a provisional entity. In the updated 2016 WHO classification , A… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with NPM1 MutationALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12494In this 2005 study, immunohistochemical staining was used to assess the subcellular localization of NPM in 1,835 paraffin-embedded tumor specimens, including 591 from primary AML patients (ages 15–60)… (full text at CIViC) PMID 15659725 · Falini et al., 2005 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with NPM1 Mutation | |||||||
| IDH1 Mutation + IDH2 Mutation + NPM1 MUTATIONIDH2IDH1NPM11 | ||||||||
| Revumenib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID12744Results from phase II of the AUGMENT-101 trial are reported for patients with NPM1 mutant relapsed/refractory AML (≥3 previous lines of therapy) treated with revumenib. Patients received revumenib wit… (full text at CIViC) PMID 40332046 · Arellano et al., 2025 · Open in CIViC | civic |
| KMT2A Rearrangement + NPM1 MUTATIONNPM1KMT2A1 | ||||||||
| Ziftomenib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID12436The KOMET-001 Phase 1 trial evaluated the menin inhibitor ziftomenib (KO-539) in patients with relapsed or refractory acute myeloid leukemia (AML) harboring either NPM1 mutations or KMT2A rearrangemen… (full text at CIViC) PMID 39362248 · Wang et al., 2024 · Open in CIViC | civic |
| NPM1 W288FS5 | ||||||||
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | A | Supports Positive | 5 | rejected | EID1510In a study of 1,540 patients with Acute Myeloid Leukemia, 418(27%) had mutations in NPM1, mostly W288fs, and there was a preferential co-mutation with NRAS(G12/13), however there was no co-mutation as… (full text at CIViC) PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support Better Outcome | 2 | accepted | EID109No NPM1 mutations were identified in patients with favorable risk cytogenetics (79/215 patients). PMID 21067377 · Ley et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | |||||
Data updated 14 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 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 |
| Ziftomenib | Acute Myeloid Leukemia with NPM1 MutationALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID13285In the registration-enabling phase II portion of KOMET-001 (NCT04067336), an open-label, single-arm, multicentre trial, 92 adults with relapsed or refractory NPM1-mutated acute myeloid leukaemia (NPM1… (full text at CIViC) PMID 40997296 · Wang et al., 2025 · Open in CIViC | civic |
| Diagnostic |
| C |
| Supports Positive |
| 3 |
| accepted |
EID12128In this 2019 study the authors aimed to detect the driver genetic alterations in a cohort of Japanese pediatric AML patients. Gene fusions were detected in 53/139 patients with RNA sequencing. The NPM… (full text at CIViC) PMID 31648321 · Shiba et al., 2019 · Open in CIViC |
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| Diagnostic |
| B |
| Supports Positive |
| 3 |
| accepted |
EID108In this publication, the role of NPM1 mutations in defining a distinct subset of acute myeloid leukemia (AML) was investigated. Among 1,485 adult AML patients enrolled in the multicenter AML96 protoco… (full text at CIViC) PMID 16455956 · Thiede et al., 2006 · Open in CIViC |
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| 〃 | Acute Myeloid Leukemia with NPM1 MutationALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12495In this 2005 study, the authors investigated the prevalence and prognostic impact of NPM1 mutation status in 300 adult patients with AML (16-60 years of age) with normal cytogenetics. The diagnostic b… (full text at CIViC) PMID 16051734 · Döhner et al., 2005 · Open in CIViC | civic |
| Revumenib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID12743Results from phase II of the AUGMENT-101 trial are reported for patients with NPM1 mutant relapsed/refractory AML (≥3 previous lines of therapy) treated with revumenib. Patients received revumenib wit… (full text at CIViC) PMID 40332046 · Arellano et al., 2025 · Open in CIViC | civic |
| Does Not Support Better Outcome |
| 2 |
| rejected |
EID121NPM1 mutations were associated with intermediate risk cytogenetics (including normal karyotype). PMID 21067377 · Ley et al., 2010 · Open in CIViC |
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| Cytarabine + Daunorubicin + EtoposideCombination | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | E | Supports Sensitivity Response | 3 | accepted | EID153NPM1 mutation (Type A, W288fs) causes cytoplasmic localization of NPM when transfected into a non-hematopoietic cell line (293T cells). Cytoplasmic localization of NPM in AML patients was associated w… (full text at CIViC) PMID 15659725 · Falini et al., 2005 · Open in CIViC | civic |
| NSC348884 | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID152NSC348884 induced apoptosis in OPI-AML3 cells harboring an NPM1 mutation. PMID 21719597 · Balusu et al., 2011 · Open in CIViC | civic |