Bone Marrow Neoplasm

In leukemia patients, IDH1 R132 mutation is associated with adults and normal karyotype.

PMID 20376086 · Ho et al., 2010 · Open in CIViC

The complete remission and overall survival rates in patients with IDH1 R132 mutation is not significantly different from those who do not have this mutation.

PMID 20368538 · Wagner et al., 2010 · Open in CIViC

Out of 520 patient samples analyzed, 9.6% (n=50) had an IDH1 mutation. Of the patients with an IDH1 mutation, 44% (n=22) had a heterozygous R132H mutation, 42% (n=21) had a R132C mutation, 12% (n=6) h… (full text at CIViC)

PMID 20625116 · Boissel et al., 2010 · Open in CIViC

In a multicenter phase I study, 33 patients with newly diagnosed IDH1 R132-mutated acute myeloid leukemia who were ineligible for standard therapy received ivosidenib 500 mg once daily. The CR+CRh rat… (full text at CIViC)

PMID 31841594 · Roboz et al., 2020 · Open in CIViC

In a subgroup analysis of a multicenter phase I study, 17 patients with relapsed or refractory IDH1 R132-mutated acute myeloid leukemia who responded to ivosidenib 500 mg once daily subsequently under… (full text at CIViC)

PMID 33772143 · DiNardo et al., 2021 · Open in CIViC

In the relapsed or refractory myelodysplastic syndrome (MDS) substudy of the phase 1, open-label, single-arm, multinational first-in-human trial of ivosidenib (NCT02074839), adults with MDS carrying a… (full text at CIViC)

PMID 38640348 · DiNardo et al., 2024 · Open in CIViC

In the double-blind, placebo-controlled, phase III AGILE trial (NCT03173248), 146 patients with newly diagnosed IDH1-mutated acute myeloid leukemia (AML) who were ineligible for intensive induction ch… (full text at CIViC)

PMID 35443108 · Montesinos et al., 2022 · Open in CIViC

This post hoc long-term follow-up analysis of the phase 3, double-blind, placebo-controlled AGILE trial (NCT03173248) reports updated outcomes for 148 patients with newly diagnosed IDH1-mutated AML in… (full text at CIViC)

PMID 40706052 · Montesinos et al., 2025 · Open in CIViC

In a preplanned interim analysis of the pivotal phase 2 cohort of an open-label, multicenter phase 1/2 trial, 153 patients with relapsed or refractory IDH1 R132-mutated acute myeloid leukemia received… (full text at CIViC)

PMID 36724515 · de Botton et al., 2023 · Open in CIViC

In a multicenter, open-label phase 1 study, 22 response-evaluable patients with relapsed or refractory IDH1-mutated acute myeloid leukemia received olutasidenib monotherapy. Nine patients achieved an … (full text at CIViC)

PMID 36370742 · Watts et al., 2023 · Open in CIViC

In a phase 2 subgroup analysis of patients with IDH1 R132-mutated acute myeloid leukemia (AML) previously treated with venetoclax-based therapy, 16 patients received olutasidenib monotherapy at 150 mg… (full text at CIViC)

PMID 38538632 · Cortes et al., 2024 · Open in CIViC

In the phase 3 AGILE trial enrolling patients with newly diagnosed IDH1-mutated AML who were ineligible for intensive induction chemotherapy, IDH1 R132 mutations (confirmed by FDA-approved Abbott Real… (full text at CIViC)

PMID 35443108 · Montesinos et al., 2022 · Open in CIViC

IDH1 R132 mutation is associated with patients of older age, high platelet count during diagnosis, cytogenic normalcy and NPM1 mutation.

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

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

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

Lin et al. analyzed 168 patients with de novo myelodysplastic syndrome (MDS) and identified IDH1 mutations in 7/168 (4.2%), including R132H (n=3), R132C (n=3), and R132L (n=1). In analyses of paired M… (full text at CIViC)

PMID 23996483 · Lin et al., 2014 · 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

R140Q mutation in IDH2 does not have prognostic value in patients with MDS.

PMID 22033490 · Patnaik et al., 2012 · 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 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

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

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

JAK2 V617F is associated with myeloid neoplasms (AML, MDS, CMML/aCML).

PMID 16081687 · Levine et al., 2005 · 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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