Hematopoietic and Lymphoid Cell Neoplasm

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

This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes

PMID 29641966 · Schmitz et al., 2018 · Open in CIViC

This study sequenced 73 DLBCL tumors (34 with matched constitutional DNA) and reported 322 genes they deemed recurrently mutated. Only genes that have been confirmed by other similar studies were adde… (full text at CIViC)

PMID 23292937 · Zhang et al., 2013 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · 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

The rate of KMT2C/MLL3 mutations reported in DLBCL was above 20% in the Zhang study but much lower in other studies (around 5%). Although the mutations do continue to be observed, the relevance and fr… (full text at CIViC)

PMID 23292937 · Zhang et al., 2013 · Open in CIViC

MLL2 was found to be the most frequently mutated gene in a sample of 31/35 follicular lymphoma patients and was not mutated in normal centroblast samples. Furthermore, MLL2 mutations were as frequentl… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

One of the most common mutations in DLBCL

PMID 21796119 · Morin et al., 2011 · Open in CIViC

More common in DLBCL but also mutated in BL

PMID 30617194 · Grande et al., 2019 · Open in CIViC

[the study] identified 25 significantly mutated genes, including known drivers such as ataxia-telangectasia mutated (ATM), cyclin D1 (CCND1), and the tumor suppressor TP53; mutated genes encoding the …

Fusion of the KMT2E promoter with the complete coding sequence of ASNS was observed in two relapsed ETP-ALL patients treated with l-asparaginase. The variant was shown to significantly increase ASNS e… (full text at CIViC)

PMID 28069604 · Khater et al., 2017 · Open in CIViC

A146T variant activates the transforming potential of the c-K-ras gene. DNA from the neutron-induced lymphoma containing the A146T varinat generated three independent nude mouse tumors containing addi… (full text at CIViC)

PMID 2403644 · Sloan et al., 1990 · Open in CIViC

In a retrospective study of 439 patients with multiple myeloma enrolled in a clinical trial, 28 had mutations in KRAS (22/28 in G12/G13). Those with KRAS (but not NRAS) mutations had worse overall (me… (full text at CIViC)

PMID 18528420 · Chng et al., 2008 · 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

The presence of KRAS mutations in MM patients is prognostic for shorter overall and progression free survival.

In a study of patients receiving melphalan-based therapy, those with KRAS codon 12 mutations were less likely to have a positive response than those with wildtype KRAS (26.9% vs. 58.3%, P=0.015).

PMID 19284554 · Greco et al., 2009 · Open in CIViC

Activating mutations in KRAS or NRAS were observed more frequently in multiple myeloma patients than in patients with monoclonal gammopathy of uncertain significance (MGUS) (31% vs. 5% ). Another stu… (full text at CIViC)

PMID 11524732 · Bezieau et al., 2001 · Open in CIViC