Leukemia

IDH1 R132 mutation in patients with AML is not associated with any prognostic value compared to patients with wild-type IDH1.

PMID 20538800 · Abbas et al., 2010 · Open in CIViC

In an experimental study of acute myeloid leukemia (AML) cell lines expressing IDH1 R132C, IDH1 R132G, or IDH1 R132H mutations were associated with increased sensitivity to small molecule glutaminase … (full text at CIViC)

PMID 24333121 · Emadi et al., 2014 · Open in CIViC

Newly developed allosteric inhibitors (GSK321) of IDH1 led to granulocytic differentiation in-vitro and in-vivo.

PMID 26436839 · Okoye-Okafor et al., 2015 · Open in CIViC

In a clinical study of 17 relapsed or refractory AML patients harboring IDH1 mutations, these patients were associated with response to AG-120 monotherapy; 4/7 patients who achieved a response experie… (full text at CIViC)

PMID 25583779 · 2015 · Open in CIViC

Popovici-Muller et al. report that IDH1 R132 mutations are gain-of-function alterations that result in production of the oncometabolite D-2-hydroxyglutarate (2-HG). The authors state that elevated 2-H… (full text at CIViC)

PMID 29670690 · Popovici-Muller et al., 2018 · Open in CIViC

Popovici-Muller et al. reported preliminary efficacy data from an ongoing phase 1 study of ivosidenib (AG-120) monotherapy in patients with IDH1-mutated malignancies. In patients with relapsed or refr… (full text at CIViC)

PMID 29670690 · Popovici-Muller et al., 2018 · Open in CIViC

In a multicenter phase I dose-escalation and expansion study, 125 patients with relapsed or refractory IDH1-mutated acute myeloid leukemia (AML) received ivosidenib 500 mg once daily. The complete rem… (full text at CIViC)

PMID 29860938 · DiNardo et al., 2018 · Open in CIViC

In a final five-year analysis of a multicenter phase 2 trial, 35 patients with relapsed/refractory IDH1 R132H-mutated acute myeloid leukemia (AML) received olutasidenib monotherapy. The overall respo… (full text at CIViC)

PMID 41239466 · Cortes et al., 2025 · Open in CIViC

In a clinical study of 17 relapsed or refractory AML patients harboring IDH1 mutations, patients were associated with response to AG-120 monotherapy; 4/7 patients who achieved a response experienced c… (full text at CIViC)

PMID 25583779 · 2015 · Open in CIViC

In a clinical study of 17 relapsed or refractory AML patients harboring IDH1 mutations, patients were associated with response to AG-120 monotherapy; 4/7 patients who achieved a response experienced c… (full text at CIViC)

PMID 25583779 · 2015 · Open in CIViC

In patients with IDH2 R140 and R172 mutation, the presence of mutation does not impact overall survival or disease free survival.

PMID 20421455 · Thol et al., 2010 · Open in CIViC

A first-in-human phase 1/2 trial assessing the pharmacology, safety and activity of Enasidenib in IDH2-mutant myeloid hematoblastosis patients. In the AML subgroup (n=176, (n=130 R140; n=45 R172; n=1 … (full text at CIViC)

PMID 28588020 · Stein et al., 2017 · Open in CIViC

In AML, patients with IDH2 R140 mutation have improved overall survival compared to those with wild-type IDH2.

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

In this meta-analysis of adult non-promyelocytic AML (11 studies), patients with IDH2 R140 or R172 mutations had event free survival and overall survival similar to those with wild-type IDH2.

PMID 22616558 · Zhou et al., 2012 · 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

JAK2 V617F is not associated with lymphoid leukemia (B-lineage ALL, T-ALL or CLL).

PMID 16081687 · Levine et al., 2005 · Open in CIViC

JAK2 V617F is associated with myeloid malignanices (AML, MDS, CMML/atypical CML).

PMID 16081687 · Levine et al., 2005 · 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)

Open in CIViC

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)

Open in CIViC

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

In an in vitro kinase study, the recombinant RET V804L mutant kinase demonstrated resistance to dasatinib treatment at concentrations of 1μM and 10μM (activity %: 101 and 91) when compared to wild typ… (full text at CIViC)

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

In an in vitro study, the recombinant KIT D816H mutation kinase was associated with increased sensitivity to bosutinib treatment (IC50: 32nM), as compared to wild-type KIT (IC50: 6313 nM). Sensitivit… (full text at CIViC)

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

In an in vitro study, the recombinant KIT D816H mutation kinase was associated with increased sensitivity to dasatinib treatment(IC50: 2.6nM vs. 93.0nM), as compared to the wild-type KIT kinase. Sensi… (full text at CIViC)

PMID 19039322 · Remsing Rix et al., 2009 · 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