Hematologic Malignancy
Myelodysplastic Syndrome
CI-CAN-00001247MDN · MDSExplore in graph →
Hematologic336 active trials3 approved drugs14 evidence items
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Hematologic Malignancy
CI-CAN-00001247MDN · MDSExplore in graph →
Variants & evidence
30 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|
| ASXL1 Mutation1 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID6942In a study of 439 patients with myelodysplastic syndrome, patients with ASXL1 mutations (N=63) had worse overall survival than wildtype patients (N=376) (P=0.003 univariate). This difference was also … (full text at CIViC) PMID 21714648 · Bejar et al., 2011 · Open in CIViC | civic |
| BCOR Mutation1 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID7450Multivariate analysis on 354 MDS patients including age, International Prognostic Scoring System, transfusion dependency, and mutational status confirmed a significant inferior OS to patients with a B… (full text at CIViC) PMID 24047651 · Damm et al., 2013 · Open in CIViC | civic |
| DDX41 G530D3 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 4 | submitted | EID106467 patients in cBIoPortal.org that are from the Papaemmanuil Lab 2022. Each patient had a diagnosis of MDS that had G530D at a VAF between 4-15%. The VAF and the fact that each of the 7 patients had … (full text at CIViC) PMID 22588877 · Cerami et al., 2012 · Open in CIViC | civic |
| (oncogenic) | Oncogenic | B | Supports Oncogenicity | 3 | rejected | EID10341There is a patient with an acquired G530D variant in a familial MDS tumor that is due to an unspecified, novel germline DDX41 alteration. Other occurrences mentioned in this article are cited in othe… (full text at CIViC) PMID 28547672 · Cheah et al., 2017 · Open in CIViC | civic |
| 〃 | Oncogenic | C | Supports Oncogenicity | 4 | submitted | EID12951In a functional study investigating the role of DDX41 in erythropoiesis and myeloid neoplasms, DDX41 p.G530D was identified in a patient with myelodysplastic syndrome (MDS) who also carried a somatic … | |
| DNMT3A Mutation1 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID123812/150 patients with de novo myelodysplastic syndrome screened for DNMT3A mutations (bone marrow and paired normal skin) had heterozygous mutations with predicted translational consequences. 1 patient… (full text at CIViC) PMID 21415852 · Walter et al., 2011 · Open in CIViC | civic |
| DNMT3A P904L1 | |||||||
| 5-Fluoro-2-Deoxycytidine + Azacitidine + Decitabine + GuadecitabineCombination | Predictive | E | Supports Sensitivity Response | 3 | rejected | EID1134Previously only reported in haematopoietic and lymphoid malignancies, P904 is a likely activating event, whose function has not been well characterized. In the tertiary protein structure, the mutation… (full text at CIViC) PMID 21415852 · Walter et al., 2011 · Open in CIViC | civic |
| ETV6 Mutation1 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID6946In a study of 439 patients with myelodysplastic syndrome, patients with ETV6 mutations (N=12) has worse overall survival than wildtype patients (N=427) (P=0.05 univariate). This difference was also ob… (full text at CIViC) PMID 21714648 · Bejar et al., 2011 · Open in CIViC | civic |
| EZH2 Mutation2 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID425In myelodysplastic syndrome, patients with point mutations in EZH2 have worse overall survival that their wild-type counterparts. PMID 20601954 · Nikoloski et al., 2010 · Open in CIViC | civic |
| 〃 | Prognostic | B | Supports Poor Outcome | 2 | submitted | EID6945In a study of 439 patients with myelodysplastic syndrome, patients with EZH2 mutations (N=10) has worse overall survival than wildtype patients (N=429) (P=0.02 univariate). This difference was also ob… (full text at CIViC) PMID 21714648 · Bejar et al., 2011 · Open in CIViC | civic |
| FLT3 D8351 | |||||||
| (prognostic) | Prognostic | C | Supports Poor Outcome | 2 | accepted | EID8330In a study of 82 newly diagnosed myelodysplastic syndrome (MDS) patients followed through to progression to acute myeloid leukemia (AML) (n =70), the incidence of FLT3 (ITD, TKD) and NRAS mutations at… (full text at CIViC) PMID 14737077 · Shih et al., 2004 · Open in CIViC | civic |
| FLT3 ITD1 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID12429This study reports the effect of FLT3-ITD mutations on the rate of progression of MDS to AML and on a patient's overall survival. The study cohort consisted of 82 MDS patients, with paired samples ana… (full text at CIViC) PMID 14737077 · Shih et al., 2004 · Open in CIViC | civic |
| IDH1 R1322 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID374IDH1 R132 mutation in patients suffering from myelodysplastic syndromes is associated with worse overall survival. PMID 20494930 · Thol et al., 2010 · Open in CIViC | civic |
| Ivosidenib | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID13287In 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 | civic |
| IDH1 R132L1 | |||||||
| (oncogenic) | 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 |
| IDH2 R1402 | |||||||
| (prognostic) | 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 |
| 〃 | 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 |
| IDH2 R172K1 | |||||||
| (prognostic) | Prognostic | B | Does Not Support N/A | 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 | civic |
| RUNX1 Mutation1 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID6944In a study of 439 patients with myelodysplastic syndrome, patients with RUNX1 mutations (N=38) has worse overall survival than wildtype patients (N=401) (P<0.001 univariate). This difference was also … (full text at CIViC) PMID 21714648 · Bejar et al., 2011 · Open in CIViC | civic |
| SF3B1 Mutation3 | |||||||
| (prognostic) | Prognostic | B | Supports Better Outcome | 3 | accepted | EID352Patients with SF3B1 mutations had a statistically significant longer overall survival as well as event free-survival. Both before and after adjustment for age, karyotype and sex. PMID 21995386 · Papaemmanuil et al., 2011 · Open in CIViC | civic |
| 〃 | Prognostic | B | Supports Better Outcome | 3 | submitted | EID5931There was a significant association of SF3B1 mutations with the presence of ring sideroblasts (P < .001) and of mutant allele burden with their proportion (P = .002). The mutant gene had a positive pr… (full text at CIViC) PMID 21998214 · Malcovati et al., 2011 · Open in CIViC | civic |
| 〃 | Prognostic | B | Supports Better Outcome | 2 | submitted | EID7135From a cohort of 944 patients with myelodysplastic syndrome, 311 patients harboring SF3B1 mutations were identified. In univariate analysis of 875 patients with sufficient clinical outcomes data, SF3B… | |
| SRSF2 P95L1 | |||||||
| (oncogenic) | Oncogenic | B | Supports Oncogenicity | 5 | submitted | EID12483The SRSF2 P95L mutation, located in the RNA recognition motif domain, is a statistically significant hotspot in myeloid malignancies. In vitro studies using HeLa and K562 cells show that P95L disrupts… (full text at CIViC) PMID 26124281 · Komeno et al., 2015 · Open in CIViC | civic |
| TET2 Mutation1 | |||||||
| (prognostic) | Prognostic | B | Supports Better Outcome | 4 | accepted | EID417In patients with myelodysplastic syndromes, those with TET2 mutations have been shown to have better overall survival than patients without TET2 mutations. PMID 19666869 · Kosmider et al., 2009 · Open in CIViC | civic |
| TP53 Mutation3 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID521In patients with myelodysplastic syndrome, in a multivariate analysis those with mutations in TP53 had shorter overall survival than wild-type patients. PMID 24836762 · Bally et al., 2014 · Open in CIViC | civic |
| 〃 | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID6943In a study of 439 patients with myelodysplastic syndrome, patients with TP53 mutations (N=33) has worse overall survival than wildtype patients (N=406) (P<0.001 univariate). This difference was also o… (full text at CIViC) PMID 21714648 · Bejar et al., 2011 · Open in CIViC | civic |
| Azacitidine + EprenetapoptCombination | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12029In this phase 1/2 clinical trial, 55 patients (40 MDS, 11 AML, 4 MDS/myeloproliferative neoplasms) with myelodysplastic syndromes harbouring TP53 mutations were treated with a combination of eprenetap… | |
| U2AF1 Q157P/R2 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID400After adjusting for age and cancer stage, presence of U2AF mutation such as Q157P/R is prognostic for poorer survival outcomes in patients with MDS. PMID 23861105 · Wu et al., 2013 · Open in CIViC | civic |
| 〃 | Prognostic | B | Does Not Support N/A | 2 | accepted | EID339In patients with MDS, those who harbor Q157P/R mutation of U2AF do not show statistical significance in complete remission rate compared to those who harbor wild type U2AF. PMID 23029227 · Qian et al., 2012 · Open in CIViC | civic |
| U2AF1 S34Y/F1 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID401After adjusting for age and cancer stage, the presence of U2AF mutations such as S34Y/F are prognostic for poorer survival outcomes in patients with MDS. PMID 23861105 · Wu et al., 2013 · Open in CIViC | civic |
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.
PMID 40764304 · Bi et al., 2025 · Open in CIViC
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PMID 24220272 · Haferlach et al., 2014 · Open in CIViC
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PMID 33449813 · Sallman et al., 2021 · Open in CIViC
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