Acute Leukemia

In patients with acute myeloid leukemia, the presence of IDH2 R140Q (n = 7), IDH2 R172K (n = 3) or IDH1 R132 (N=4) mutations did not confer prognostic value (overall survival) compared to wild-type ID… (full text at CIViC)

PMID 21997850 · Lin et al., 2012 · Open in CIViC

AG-221 induces differentiation in four IDH2R140Q-mutant human AML xenograft mouse models in vivo and conferred a dose-dependent, statistically significant survival advantage in an in vivo aggressive h… (full text at CIViC)

PMID 28193778 · Yen et al., 2017 · Open in CIViC

In a study of 1,540 patients with Acute Myeloid Leukemia, 18 patients had a mutation in IDH2(R172). IDH2(R172) mutations rarely showed co-mutation with NPM1 (odds ratio= 0.06; P=4x10-5), whereas IDH2… (full text at CIViC)

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

In AML, patients with an IDH2 R172K mutation have worse overall survival compared to those with wild-type IDH2.

PMID 21596855 · Green et al., 2011 · Open in CIViC

AML patients with IDH2 mutations such as R172K have event free survival and overall survival similar to those with wild-type IDH2.

PMID 22616558 · Zhou et al., 2012 · Open in CIViC

CRLF2 overexpression was examined in 90 adult B-ALL patients with demographic data that lacked characteristic rearrangements and identified overexpression in 15/90 (16.67%). Disease-free survival was … (full text at CIViC)

PMID 20018760 · Yoda et al., 2010 · Open in CIViC

To investigate the therapeutic potential of JAK inhibitors in Ph-like ALL, the authors examined the efficacy of ruxolitinib in murine xenograft models of 8 pediatric B-ALL cases. Six xenografts (I to … (full text at CIViC)

PMID 22955920 · Maude et al., 2012 · Open in CIViC

This study identifies DUX4 rearrangements, specifically IGH::DUX4 fusions, as diagnostic markers for a distinct molecular subtype of Philadelphia chromosome-negative (Ph−) B-lymphoblastic leukemia/lym… (full text at CIViC)

PMID 27019113 · Yasuda et al., 2016 · Open in CIViC

This study highlights the diagnostic significance of DUX4 gene rearrangements in a distinct molecular subtype of B-lymphoblastic leukemia/lymphoma (B-ALL). Among 1,913 B-ALL cases, including 1,347 chi… (full text at CIViC)

PMID 27776115 · Zhang et al., 2016 · Open in CIViC

IKZF1 deletions in patients with BCR-ABL–positive adult acute lymphoblastic leukemia were associated with reduced disease-free survival compared to wild type patients.

PMID 19770381 · Martinelli et al., 2009 · Open in CIViC

A targeted copy number screen of 131 precursor B-ALL cases revealed that IKZF1 deletions are significantly associated with poor relapse-free and overall survival rates. Furthermore non-high-risk patie… (full text at CIViC)

PMID 20445578 · Kuiper et al., 2010 · Open in CIViC

Activating exon 6 IL7R mutations were found in 17 out of 201 pediatric T-ALL cases (9%). These mutations consisted of in-frame insertions of several amino-acid residues, including cysteine, in the ex… (full text at CIViC)

PMID 21892159 · Zenatti et al., 2011 · Open in CIViC

A 17-year-old Native American female with B-ALL had persistent MRD at the end of induction. In addition to a complex karyotype, sequencing revealed a novel F694L mutation in JAK2, a p.Cys119_Ile121del… (full text at CIViC)

PMID 27860260 · Mayfield et al., 2017 · Open in CIViC

Mice transplanted with bone marrow progenitor cells expressing JAK3 mutants (including M511I) developed a long-latency transplantable T-ALL-like disease, characterized by an accumulation of immature C… (full text at CIViC)

PMID 25193870 · Degryse et al., 2014 · Open in CIViC

This is an international retrospective study by International Berlin-Frankfurt-Munster (I-BFM) AML study group including 543 pediatric AML patients from 18 countries diagnosed between 1995-2005. The a… (full text at CIViC)

PMID 23974201 · Coenen et al., 2013 · Open in CIViC

This manuscript is the first report of a unique expression profile in pediatric AML with KAT6A::CREBBP gene fusion (known also as MOZ::CBP or MYST3::CREBBP). Genomic studies and gene expression profil… (full text at CIViC)

PMID 20630590 · Serravalle et al., 2010 · Open in CIViC

An array of KDM6 deficient AMP cells showed increased sensitivity to PARP inhibition. In a mouse model xenotransplant with a KDM6A loss of function AMP cell line increased susceptibility to PARP block… (full text at CIViC)

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Dual targeting of PARP (olipartinib) and BCL2 (venetoclax) was reported to be superior to either PARP or BCL2 inhibition alone in inducing primary AML cell apoptosis, and loss of KDM6A further enhance… (full text at CIViC)

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28 yo with acute B-lymphoblastic leukemia. RNA seq showed KIF5B::FGFR1 fusion. Fusion was reported to be in-frame. The FGFR1 fusion and its protein expression were validated by Sanger sequencing and W… (full text at CIViC)

PMID 38023217 · Zhang et al., 2023 · Open in CIViC

whereas cells from a patient with t(8;21) and D816H type mC-KIT were resistant to Gleevec but sensitive to Ara-C (Fig. 4E).

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

In acute myloid leukemia patients, D816 mutation is associated with earlier relapse and poorer prognosis than wildtype KIT.

PMID 16384925 · Cairoli et al., 2006 · Open in CIViC

The authors studied the role of KIT D816V in acute myeloid leukemia (AML) using engineered TF-1 cells to express either wild-type KIT or KIT D816V. They discovered that KIT D816V led to constitutive a… (full text at CIViC)

PMID 31311917 · Larrue et al., 2019 · 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 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