Leukemia

Young 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

NSC348884 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

In 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

ATRA 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

ATRA 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

For 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

In 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

In 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

In 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

In 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

In 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

Results 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

The 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

In 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

No NPM1 mutations were identified in patients with favorable risk cytogenetics (79/215 patients).

PMID 21067377 · Ley et al., 2010 · Open in CIViC

NRAS mutation status does not impact overall, event-free or disease-free survival in patients with AML.

PMID 16434492 · Bacher et al., 2006 · Open in CIViC

Patients with a triple mutation of NPM1, DNMT3A, and NRAS (G12/13) (three-way interaction p=0.04) showed a relatively benign prognosis with an 8-year survival rate of 75% and a 10-year survival rate o… (full text at CIViC)

PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC

The presence of NRAS mutation in AML patients does not impact diease prognosis (resistant disease, disease-free survival, complete remission rate, relapse rate, induction death).

PMID 15951308 · Bowen et al., 2005 · Open in CIViC

CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 D407A mutation had increased resistance to 6-mercaptopurine and 6-thioguanine treatment than cells expressing wildtype NT5C… (full text at CIViC)

PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC

CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC)

PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC

The K359Q somatic mutation was significantly correlated with early disease recurrence and relapse in 103 T-cell ALL regardless of treatment course. The data was obtained from Berlin Frankfurt Münster … (full text at CIViC)

PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC

CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC)

PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC

Within a cohort of 71 pediatric B-ALL relapse cases, all 7 patients with NT5C2 mutations detected at relapse demonstrated early relapse (<36 months from initial diagnosis) with a median time to relaps… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed 3 early relapse cases with NT5C2 R238W enrich… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

Overexpression of NT5C2 R238W in Reh cells resulted in no change in response to cytarabine, gemcitabine, doxorubicin or prednisolone versus wildtype or GFP controls as indicated by similar apoptosis.

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

Lentiviral mediated overexpression of NT5C2 R367Q in Reh cells resulted in no change in apoptosis after exposure to cytarabine, gemcitabine, doxorubicin, or prednisolone compared to wildtype NT5C2 ove… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 R367Q mutation had increased resistance to 6-mercaptopurine and 6-thioguanine treatment than cells expressing wildtype NT5C… (full text at CIViC)

PMID 23377281 ·

71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed an early relapse case with NT5C2 S445F enrich… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

Overexpression of NT5C2 S445F in Reh cells resulted in no change in response to cytarabine, gemcitabine, doxorubicin or prednisolone versus wildtype or GFP controls as indicated by similar apoptosis.

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

This variant was found in one case of atypical CML out of 185 hematological malignancies. The authors propose that NTRK2 R458G, residing in the juxtamembrane domain, activates TrkB via noncanonical me… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · Open in CIViC

The authors propose that NTRK2 R458G, residing in the juxtamembrane domain, activates TrkB via noncanonical mechanisms that may involve altered interactions between the mutant receptor and lipids in t… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · Open in CIViC

Patients from three (Guatemala, Singapore and Japan) separate cohorts harboring NUDT15 loss of function mutations displayed intolerance to Thiopurine treatment (p=0.021, 2.1e-5, & 0.0054). Patients wi… (full text at CIViC)

PMID 26878724 · Moriyama et al., 2016 · Open in CIViC

Acute megakaryoblastic leukemia (AMKL) is a rare subtype of AML. CBFA2T3/GLIS2 and NUP98/KDM5A are recurrent aberrations, occurring in similar frequencies as RBM15/MKL1 and KMT2A-rearrangements. In th… (full text at CIViC)

PMID 27114462 · de Rooij et al., 2016 · Open in CIViC

In this study >1000 well-characterized pediatric and adult AML cases were screened using a NUP98/NSD1-specific RT-PCR. In the pediatric cohort (n = 293; age, 0-18 years), NUP98/NSD1 was present in 16.… (full text at CIViC)

PMID 21813447 · Hollink et al., 2011 · Open in CIViC

This publication examines coexpression of NUP98/NSD1 and FLT3/ITD in AML, remission, and survival rate in 1421 patients. The CR rate for patients with and without FLT3/ITD was 63% and 82%, respectivel… (full text at CIViC)

PMID 25145343 · Ostronoff et al., 2014 · Open in CIViC