Hematopoietic and Lymphoid Cell Neoplasm

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

In patients with multiple myeloma, the presence of a mutation in NRAS was not significantly associated with progression-free or overall survival.

PMID 18528420 · Chng et al., 2008 · 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

In an open-label, phase II trial, 18 patients with histiocytosis of any mutational status were enrolled. The overall response rate was 89% (90% CI: 73 - 100). Responses were durable, with no acquired … (full text at CIViC)

PMID 30867592 · Diamond et al., 2019 · Open in CIViC

In an open-label, phase II trial, 18 patients with histiocytosis of any mutational status were enrolled. Patients received cobimetinib at a starting dose of 60 mg daily for 21 days of each 28-day cycl… (full text at CIViC)

PMID 30867592 · Diamond et al., 2019 · Open in CIViC

Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including WHSC1 (NSD2).

PMID 32160292 · Pararajalingam et al., 2020 · 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

In this study deep sequencing was performed on 185 patients with hematological malignancies, and the NTRK2 A203T substitution was detected in one case of primary myelofibrosis. The substitution is loc… (full text at CIViC)

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

Deep sequencing of samples from 185 patients with different hematological malignancies detected an NTRK2 A203T substitution in one case of primary myelofibrosis. When stably expressed into murine inte… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · 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

This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a BCR-ABL1-like (Ph-like) gene expression signature. RT-PCR or RNAseq perf… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · Open in CIViC

B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 1 patient (12.1 years old) with a… (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC