Myeloid Neoplasm

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

In a phase II clinical trial, 60% of patients (N=89) with advanced systemic mastocytosis responded to treatment with midostaurin.

PMID 27355533 · Gotlib et al., 2016 · Open in CIViC

In this open-label phase II study, 20 patients with systemic mastocytosis (SM) were recruited between 2003 and 2005. Seven of 20 patients were KIT D816V mutation-negative. Among these, one patient wit… (full text at CIViC)

PMID 19193436 · Vega-Ruiz et al., 2009 · Open in CIViC

In this case report, a 24-year-old female patient with systemic mastocytosis (SM) and without KIT D816V mutation was treated with imatinib at a 400mg dose/daily. The patient showed excellent clinical… (full text at CIViC)

PMID 27741105 · Huang et al., 2016 · Open in CIViC

In this case report, a 56 y/o female patient with normal karyotyping and no KIT mutation was diagnosed with systemic mastocytosis associated with MDS/MPN . Treatment with imatinib was initiated at a d… (full text at CIViC)

PMID 35096623 · Barozzi et al., 2021 · 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

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

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

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

The C121S/G128D and 56_61QKQKVG>R variants were resistant to the mitogen-activated protein kinase kinase (MEK) inhibitor trametinib in vitro. All three variant proteins constitutively phosphorylated E… (full text at CIViC)

PMID 25899310 · Nelson et al., 2015 · Open in CIViC

The C121S/G128D and 56_61QKQKVG>R variants were resistant to the mitogen-activated protein kinase kinase (MEK) inhibitor trametinib in vitro. All three variant proteins constitutively phosphorylated E… (full text at CIViC)

PMID 25899310 · Nelson et al., 2015 · Open in CIViC

Brown wt al. described ex vivo efficacy of MEK inhibition in tissue obtained from a LCH patient harboring this somatic MAP2K1 mutation. We have treated a single patient with a systemic LCH showing th… (full text at CIViC)

PMID 24982505 · Brown et al., 2014 · Open in CIViC

In this case series, 3 patients with Langerhans cell histiocytosis (LCH) were studied. Patient #1 was a 15-year-old male who has experienced five reactivations of LCH. He presented with left mastoid L… (full text at CIViC)

PMID 32991018 · Messinger et al., 2020 · 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

Novel BRAF gene fusion in Langerhans Cell Histiocytosis lesions results in constitutive ERK activation that is responsive to second-generation BRAF and MEK inhibitors, but not to a BRAF-V600E inhibito… (full text at CIViC)

PMID 27729324 · Chakraborty et al., 2016 · Open in CIViC

Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues 2016.

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

In a study of activation mutations in MPL were prognostically informative for overall survival. They occur in 4% with ET and 8% with Primary Myelofibrosis.

PMID 25037629 · Tefferi et al., 2014 · Open in CIViC

Comprehensive genomic characterization was undertaken in a total of 2035 patients including 1321 patients with essential thrombocythemia, 356 with polycythemia vera, 309 with myelofibrosis, and 49 wit… (full text at CIViC)

PMID 30304655 · Grinfeld et al., 2018 · Open in CIViC

Found MPL W515L mutation in 4/45 MF patients' bone marrow but not cheek DNA. Expression of the mutated gene in cell cultures (BaF3, 3D, or UT-7 cells) resulted increased cell growth, and in mice (via … (full text at CIViC)

PMID 16834459 · Pikman et al., 2006 · Open in CIViC

Acute basophilic leukemia is a very rare subtype of acute myeloid leukemia. This study reports 4 cases of ABL with a t(X;6)(p11;q23) translocation occurring in male infants. Authors performed multiple… (full text at CIViC)

PMID 21474671 · Quelen et al., 2011 · Open in CIViC

This study describes a novel MYO18A::FLT3 fusion in a 47-year-old male with mixed myelodysplastic/myeloproliferative features. He presented with leukocytosis, splenomegaly, and atypical chronic myeloi… (full text at CIViC)

PMID 30559310 · Zhang et al., 2018 · Open in CIViC