Leukemia

In a systemic mastocytosis (SM) and acute myelogeneous leukemia (AML) patient harboring KIT D816V mutation, KIT D816V was associated with improved response to dasatinib therapy. The patient initially … (full text at CIViC)

PMID 18986703 · Ustun et al., 2009 · Open in CIViC

In the HMC-1 human cell line, cells with KIT V560G activating mutation were treated with dasatinib and showed reduced levels of phospho-KIT, potent growth inhibition, and increased Annexin V binding a… (full text at CIViC)

PMID 16434489 · Shah et al., 2006 · Open in CIViC

In an in vitro study, the recombinant KIT D816V mutation kinase was associated with increased sensitivity to dasatinib treatment (IC50: 37nM vs. 79nM), as compared to wild-type KIT kinase. Sensitivity… (full text at CIViC)

PMID 16434489 · Shah et al., 2006 · Open in CIViC

In an in vitro study, the recombinant KIT D816V mutation kinase was associated with sensitivity to dasatinib treatment.

PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC

In an in vitro kinase experiment, kinases wtih the KIT D816V mutation demonstrated resistance to imatinib (IC50: >10,000nM vs. 1550nM) treatment compared to the KIT wild-type kinase. In the HMC-1 huma… (full text at CIViC)

PMID 16434489 · Shah et al., 2006 · Open in CIViC

In the HMC-1 human cell line, cells with KIT V560G activating mutation were treated with imatinib and showed reduced levels of phospho-KIT, potent growth inhibition, and increased Annexin V binding at… (full text at CIViC)

PMID 16434489 · Shah et al., 2006 · Open in CIViC

M541L mutation was not associated with CML in caucasian patients, and was common among healthy controls (8.1%), in contrast to a previous study in a Japanese CML patient population in which M541L was … (full text at CIViC)

PMID 16307017 · Krüger et al., 2006 · Open in CIViC

In 5 patients with KIT M541L mutation-positive chronic eosinophilic leukemia (4 somatic and 1 germline mutation), treatment with low dose imatinib resulted in complete and lasting remission with a med… (full text at CIViC)

PMID 25015329 · Iurlo et al., 2014 · Open in CIViC

This is a prospective clinical trial testing the safety and efficacy of adding dasatinib to chemotherapy (cytarabine-daunorubicin/HiDAC) in patients with Core Binding Factor (CBF) AML (i.e RUNX1-RUNX1… (full text at CIViC)

PMID 32092139 · Marcucci et al., 2020 · Open in CIViC

Compared to non-treated control cells, Kasumi-1 cells (KIT-mutated cell lines) that were exposed to nilotinib (30 uM) showed a 60% reduction in colony numbers. Further evidence to support cell death i… (full text at CIViC)

PMID 28720666 · Shen et al., 2017 · Open in CIViC

Finally, although reports suggested and our study confirmed that D816 mutations were resistant to Gleevec (26), our results clearly show that t(8;21) leukemic cells carrying N822K mC-KIT, the most fre… (full text at CIViC)

PMID 15650049 · Wang et al., 2005 · Open in CIViC

In this preclinial trial, the AML cell line Kasumi-1 with c-KIT N822K mutation was treated with Ponatinib. This drug effectively inhibits both KIT phosphorylation and viability for Kasumi-1 cells at I… (full text at CIViC)

PMID 21482694 · Gozgit et al., 2011 · Open in CIViC

Patients with relapsed/refractory AML or 60 years old or more with untreated AML were enrolled on a phase II study of selumetinib and analyzed for mutations in KIT, NRAS, KRAS and FLT3. KIT mutation a… (full text at CIViC)

PMID 24178622 · Jain et al., 2014 · Open in CIViC

In 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

In 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

In 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

In 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

In 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

In 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

This 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

KMT2A 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

In 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

Based 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

B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged, is a well- defined subgroup in the current WHO classification of hematologic malignancies.

PMID 27069254 · Arber et al., 2016 · Open in CIViC

KMT2A, also called MLL (MIXED- LINEAGE-LEUKAEMIA) gene is mapped to chromosome band 11q23, a region of recurrent rearrangements in acute leukemias. Collectively, acquired abnormalities in the 11q23 re… (full text at CIViC)

PMID 12057554 · Pui et al., 2002 · Open in CIViC

In the phase I/II trial AUGMENT-101 (NCT04065399), 94 patients (71 adults and 23 children under 18 years) with KMT2A-rearranged acute leukemia received at least one dose of revumenib. Among them, 78 p… (full text at CIViC)

PMID 39121437 · Issa et al., 2024 · Open in CIViC

In 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

In 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

Children with early age leukaemia who had second hand smoke exposure are more likely to harbor KRAS mutation.

PMID 24571676 · Andrade et al., 2014 · Open in CIViC

One patient enrolled in a clinical study to evaluate vemurafenib treatment of BRAF V600E mutant hairy-cell leukemia developed resistance to vemurafenib retreatment. 300-gene targeted sequencing of the… (full text at CIViC)

PMID 26352686 · Tiacci et al., 2015 · Open in CIViC

Plays a causative role in leukemogenesis. RAS existed in a GTP-bound state in greater abundance than wild type, leading to increased phosphorylation of ERK (Fig. 2) Identified as oncogenic alleles in … (full text at CIViC)

PMID 19075190 · Tyner et al., 2009 · Open in CIViC

The 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

The 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

In 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

In 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

Clinically, 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

In 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

This 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

t(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

Cell 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

MEF2D 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

Tumor 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