Cancer Family
Myeloid Neoplasm
CI-CAN-00000279Explore in graph →
HematologicNon-malignant1,102 active trials29 approved drugs653 evidence items
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Cancer Family
CI-CAN-00000279Explore in graph →
Variants & evidence
1,187 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| IDH1 R132H2 | ||||||||
| Ivosidenib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID13075In 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 | civic |
| Olutasidenib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID13079In 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 | civic |
| IDH1 R132L2 | ||||||||
| (oncogenic) | Myelodysplastic SyndromeCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID13304Lin 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 | civic |
| Ivosidenib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | — | rejected | EID2021In 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 | civic |
| IDH1 R132S1 | ||||||||
| Ivosidenib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | — | submitted | EID2340In 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 | civic |
| IDH2 Mutation5 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 3 | accepted | EID328In 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 | civic |
| Enasidenib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID5069A 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 | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | ||||||
| IDH2 R1406 | ||||||||
| (prognostic) | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Does Not Support N/A | 3 | accepted | EID330R140Q mutation in IDH2 does not have prognostic value in patients with MDS. PMID 22033490 · Patnaik et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID350In 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 | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | ||||
| IDH2 R1721 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID1511In 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 | civic |
| IDH2 R172K3 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID375In 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 | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 2 | accepted | EID331AML 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 | civic |
| 〃 | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Does Not Support | ||||
| JAK2 V617F4 | ||||||||
| (diagnostic) | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID5JAK2 V617F is associated with myeloid malignanices (AML, MDS, CMML/atypical CML). PMID 16081687 · Levine et al., 2005 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID6JAK2 V617F is associated with myeloid neoplasms (AML, MDS, CMML/aCML). PMID 16081687 · Levine et al., 2005 · Open in CIViC | civic |
| Fedratinib | Polycythemia Vera | Predictive | D | Supports Sensitivity Response | 3 | accepted | ||
| CREBBP Fusion3 | ||||||||
| (diagnostic) | Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3); KAT6A-CREBBPALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12153This 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 | civic |
| 〃 | Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3); KAT6A-CREBBPALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12154This 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 | civic |
| 〃 | ||||||||
| KDM6A Loss3 | ||||||||
| Olaparib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11034An 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) | civic |
| Olaparib + VenetoclaxCombination | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11037Dual 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) | civic |
| Venetoclax | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | ||||||
| RET Fusion + RET V804L1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | submitted | EID7515In 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 | civic |
| KIT D816H3 | ||||||||
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | — | submitted | EID4153In 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 | civic |
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | — | submitted | EID4154In 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 | civic |
| Imatinib Mesylate | Acute Myeloid Leukemia | |||||||
| KIT D816V16 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID26In 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 | civic |
| 〃 | Systemic Mastocytosis | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1726The D816V+ advanced systemic mastocytosis patients with additional mutations in SRSF2 (N=30), ASLX1 (N=20), or RUNX1 (N=16) exhibited lower overall survival over 14 years as compared to D816V+ patient… (full text at CIViC) PMID 26464169 · Jawhar et al., 2016 · Open in CIViC | civic |
| (oncogenic) | Systemic Mastocytosis | Oncogenic | D | Supports Oncogenicity | 4 | submitted | ||
Data updated 21 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| A |
| Supports Sensitivity Response |
| 3 |
| rejected |
EID7279In phase 1/2 trial for patients with relapsed or refractory AML with IDH2 mutation were treated with enasidenib. Overall response rate was 40.3%, with a median response duration was 5.8 months, median… (full text at CIViC) PMID 28588020 · Stein et al., 2017 · Open in CIViC |
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| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID4833Mutations in IDH1 or IDH2 are identified in approximately 20% of patients with AML.This study report the discovery and characterization of AG-221, orally available, selective, potent inhibitor of the … (full text at CIViC) PMID 28193778 · Yen et al., 2017 · Open in CIViC | civic |
| Venetoclax | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID8857In this case series, 7 elderly patients with secondary AML (sAML) not eligible for intensive chemotherapy and refractory to HMA (including 1 patient with antecedent myeloproliferative neoplasm) were t… (full text at CIViC) PMID 30725494 · Huemer et al., 2019 · Open in CIViC | civic |
| 2 |
| accepted |
EID327In 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 |
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| 〃 | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Does Not Support N/A | 2 | accepted | EID329In patients with myelodysplastic syndrome, the presence of IDH2 R140Q (N=3) or IDH1 R132 (N=2) mutations did not confer prognostic value (overall survival) compared to wild-type IDH1/2 patients (N=61;… (full text at CIViC) PMID 21997850 · Lin et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 2 | accepted | EID1542In 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 | civic |
| Enasidenib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID10292AG-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 | civic |
| 2 |
| accepted |
EID332In patients suffering from MDS, the presence of IDH2 mutations such as R172K do not confer prognostic value (overall survival). PMID 21997850 · Lin et al., 2012 · Open in CIViC |
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TG101348 effectively inhibits STAT5 signaling in JAK2 V617F cells.
PMID 18394554 · Wernig et al., 2008 · Open in CIViC
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| Peginterferon Alfa-2b | Polycythemia Vera | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID19In patients with JAK2 V617F, the use of pegylated IFN-alpha-2a leads to reduction in the percentage of cells harboring JAK2 V617F. PMID 16709929 · Kiladjian et al., 2006 · Open in CIViC | civic |
| Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3); KAT6A-CREBBPALIAS |
| Diagnostic |
| C |
| Supports Positive |
| 3 |
| accepted |
EID12155The authors reported a congenital AML case with leukemia cutis and a cryptic insertional t(8;16)(p11.2;p13.3)/KAT6A::CREBBP fusion identified exclusively by FISH. They found KAT6A::CREBBP fusion in 11… (full text at CIViC) PMID 28097792 · Barrett et al., 2017 · Open in CIViC |
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| Supports Sensitivity Response |
| 3 |
| submitted |
EID11036KDM6A repression was reported to sensitize AML cells to venetoclax. In addition, attenuation of KDM6 was reported to increase mitochondrial activity and intracellular ROS levels and de-reporessed BCL2… (full text at CIViC) |
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| Predictive |
| D |
| Supports Resistance |
| 3 |
| submitted |
EID6957whereas 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 |
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EID12411The authors studied the role of the KIT D816V variant in promoting inflammation in systemic mastocytosis. They used patients’ bone marrow-derived mast cells, as well as mouse mast cell line (MCBS1, en… (full text at CIViC) PMID 30948489 · Tobío et al., 2020 · Open in CIViC |
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| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12410The 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 | civic |
| 〃 | Systemic Mastocytosis | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12913In this study, the authors investigated pediatric mastocytosis and compared the functional properties of KIT extracellular domain (ECD) variants with phosphotransferase domain (PTD) variants, includin… (full text at CIViC) PMID 20484085 · Yang et al., 2010 · Open in CIViC | civic |
| 〃 | Systemic Mastocytosis | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12914In this study, the authors analyzed the functional consequences of the KIT D816V variant in murine hematopoietic progenitor cells (MIHCs). MIHCs expressing KIT D816V exhibited factor-independent growt… (full text at CIViC) PMID 11520784 · Chian et al., 2001 · Open in CIViC | civic |
| 〃 | Systemic Mastocytosis | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12916In this study, the authors evaluated a panel of activating KIT variants, including KIT D816V, for their transforming capacity and downstream signaling in hematologic malignancies associated with syste… (full text at CIViC) PMID 15790786 · Growney et al., 2005 · Open in CIViC | civic |
| 〃 | Systemic Mastocytosis | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12917In this study, the authors investigated the structural and functional effects of the KIT D816V variant using molecular modeling, molecular dynamics simulations, docking studies, and Ba/F3 cell-based a… (full text at CIViC) PMID 16190746 · Vendôme et al., 2005 · Open in CIViC | civic |
| Avapritinib | Systemic Mastocytosis | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11274In this phase I, open-label, dose-escalation trial, 86 patients (n = 69 had AdvSM n = 14 had indolent SM, n = 2 had smoldering SM, and n = 1 had chronic myelomonocytic leukemia) were enrolled. 36 pati… (full text at CIViC) PMID 34873347 · DeAngelo et al., 2021 · Open in CIViC | civic |
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | — | submitted | EID4161In an in vitro study, the recombinant KIT D816V mutation kinase was associated with insensitivity to bosutinib treatment (IC50: 2772nM), comparable to wild-type KIT kinase (IC50: 6313nM). Resistance w… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| Dasatinib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID4159In a systemic mastocytosis (SM) and acute myelogeneous leukemia (AML) patient harboring KIT D816V mutation, KIT D816V was associated with improved response to dasatinib therapy. The patient initially … (full text at CIViC) PMID 18986703 · Ustun et al., 2009 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID8361In the HMC-1 human cell line, cells with KIT V560G activating mutation were treated with dasatinib and showed reduced levels of phospho-KIT, potent growth inhibition, and increased Annexin V binding a… (full text at CIViC) PMID 16434489 · Shah et al., 2006 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | — | submitted | EID4162In an in vitro study, the recombinant KIT D816V mutation kinase was associated with increased sensitivity to dasatinib treatment (IC50: 37nM vs. 79nM), as compared to wild-type KIT kinase. Sensitivity… (full text at CIViC) PMID 16434489 · Shah et al., 2006 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | — | submitted | EID4163In an in vitro study, the recombinant KIT D816V mutation kinase was associated with sensitivity to dasatinib treatment. PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| Imatinib | Systemic Mastocytosis | Predictive | B | Supports Resistance | 3 | accepted | EID11160In this open-label phase II study, 20 patients with systemic mastocytosis (SM) were enrolled between 2003 and 2005 and treated with imatinib mesylate. Thirteen of the 20 patients were positive for the… (full text at CIViC) PMID 19193436 · Vega-Ruiz et al., 2009 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 4 | accepted | EID8360In an in vitro kinase experiment, kinases wtih the KIT D816V mutation demonstrated resistance to imatinib (IC50: >10,000nM vs. 1550nM) treatment compared to the KIT wild-type kinase. In the HMC-1 huma… (full text at CIViC) PMID 16434489 · Shah et al., 2006 · Open in CIViC | civic |