Cancer Family
Myeloid Neoplasm
CI-CAN-00000279Explore in graph →
HematologicNon-malignant1,103 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 |
|---|---|---|---|---|---|---|---|---|
| CEBPA Mutation3 | ||||||||
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | D | Supports Negative | 3 | submitted | EID12175In this 2019 study, the authors investigated how the order of CEBPA mutations influences AML progression in mice that phenocopies the human disease transcriptionally and morphologically. The study rev… (full text at CIViC) PMID 31784538 · Braun et al., 2019 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with CEBPA MutationALIAS | Diagnostic | D | Supports Positive | 3 | accepted | EID12200In this 2019 study, the authors investigated the diagnostic significance of CEBPA mutations in AML by analyzing how the order of these mutations influences disease development in a mouse model that re… (full text at CIViC) PMID 31784538 · Braun et al., 2019 · Open in CIViC | civic |
| Tretinoin | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 3 | accepted | EID122In a randomized trial of previously untreated younger (<60) patients with acute myeloid leukemia (excluding acute promyelocytic leukemia) and high-risk myelodysplastic syndrome CEBPA mutation status h… (full text at CIViC) PMID 19965647 · Burnett et al., 2010 · Open in CIViC | civic |
| CEBPA N-TERMINAL FRAME SHIFT2 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID169Remission duration was significantly longer in younger (16-60), cytogenetically normal AML patients with CEBPA PMID 14726504 · Fröhling et al., 2004 · Open in CIViC | civic |
| OICR-9429 | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1103This preclinical study establishes that the p30 isoform of CEBPA expressed as a result of N-terminal truncating mutations preferentially interacts with WRD5, a component of the SET/MLL complex. Knockd… (full text at CIViC) PMID 26167872 · Grebien et al., 2015 · Open in CIViC | civic |
| Positive2 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12040Samples from 395 patients with de novo or secondary AMP were processed by SNP arrays and chromothripsis was assessed using CTLP-Scanner. Patients were classified as either positive or negative for chr… (full text at CIViC) PMID 29472722 · Fontana et al., 2018 · Open in CIViC | civic |
| Chemotherapy | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Resistance | 3 | submitted | EID12041Chromothripsis defined a group of patients with poor prognosis. Samples from 395 patients with de novo or secondary AMP were processed by SNP arrays and chromothripsis was assessed using CTLP-Scanner.… (full text at CIViC) PMID 29472722 · Fontana et al., 2018 · Open in CIViC | civic |
| CSF3R Mutation2 | ||||||||
| (diagnostic) | Chronic Neutrophilic Leukemia | Diagnostic | B | Supports Positive | 3 | accepted | EID1388Study found that mutations in CSF3R are enriched in patients with Chronic Neutrophilic Leukemia (CNL) or Atypical Chronic Myeloid Leukemia (16/27, 59%) when compared to other blood disorders (AML=1/29… (full text at CIViC) PMID 23656643 · Maxson et al., 2013 · Open in CIViC | civic |
| 〃 | Atypical Chronic Myeloid LeukemiaALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID1389Study found that mutations in CSF3R are enriched in patients with Chronic Neutrophilic Leukemia (CNL) or Atypical Chronic Myeloid Leukemia (16/27, 59%) when compared to other blood disorders (AML=1/29… (full text at CIViC) PMID 23656643 · Maxson et al., 2013 · Open in CIViC | civic |
| CSF3R T618I3 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID9072Tarlock et al. (2020) report the incidence of CSF3R mutations in a large cohort of pediatric AML; CSF3R mutations almost always cooccured mutually exclusively with either CEBPA variants or t(8;21). Th… (full text at CIViC) PMID 32187354 · Tarlock et al., 2020 · Open in CIViC | civic |
| Ruxolitinib | Chronic Neutrophilic Leukemia | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID6381Case report of a patient treated with ruxolitinib, an FDA-approved JAK1/2 inhibitor, which resulted in dramatic improvement of his blood counts. He also had significant reduction of spleen volume and … (full text at CIViC) PMID 25180155 · Dao et al., 2014 · Open in CIViC | civic |
| 〃 | Chronic Neutrophilic Leukemia | Predictive | D | Supports | ||||
| DDX41 G530D14 | ||||||||
| (oncogenic) | Myeloid Neoplasm | Oncogenic | B | Supports Oncogenicity | 5 | submitted | EID11435The G530D variant was identified in 8 patients with myeloid neoplasm who had somatic status confirmed by buccal swab or sorted T-cells; germline variants included none in 3 patients (one of whom had a… (full text at CIViC) PMID 36322930 · Makishima et al., 2023 · Open in CIViC | civic |
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | B | Supports Predisposition | 4 | submitted | EID10339DDX41 p.G530D (NM_016222.2) was detected in the germline of 5 family members. Family H's pedigree can be seen in Fig. 1H - which includes: 1) III.6 (proband) was diagnosed with AML at 50 (CBC paramete… (full text at CIViC) PMID 26712909 · Lewinsohn et al., 2016 · Open in CIViC | civic |
| (diagnostic) | Myelodysplastic SyndromeCURATED_BROADER | Diagnostic | B | |||||
| DDX41 c.121C>T (p.Q41*) + DDX41 G530D1 | ||||||||
| (oncogenic) | Acute Myeloid LeukemiaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID10346In a cohort of 5,801 patients with hematologic malignancies evaluated using next-generation sequencing (NGS)–based myeloid panels, 90 patients were identified with at least one DDX41 alteration at >40… (full text at CIViC) PMID 33585199 · Bannon et al., 2020 · Open in CIViC | civic |
| DNMT3A Mutation5 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1585In AML patients aged <60years, presence of a DNMT3A mutation associated with inferior CR rate (HR, 0.54; P=.05) and shorter OS (HR, 1.84; P<.001) in multivariate analyses. Mutated DNMT3A associated wi… (full text at CIViC) PMID 27288520 · Metzeler et al., 2016 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1586DNMT3A mutations associate with adverse overall survival in acute myeloid leukemia patients if they occur in the context of mutated NPM1 and FLT3-ITD (NPM1-FLT3ITD-DNMT3A phenotype), and in the conte… (full text at CIViC) PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | |||||||
| DNMT3A P904L1 | ||||||||
| 5-Fluoro-2-Deoxycytidine + Azacitidine + Decitabine + GuadecitabineCombination | Myelodysplastic SyndromeCURATED_BROADER | 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 |
| DNMT3A R88217 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID62AML patients with DNMT3A mutations (59% of which were R882) showed worse survival (event-free and overall) outcome than those without DNMT3A mutation. PMID 21067377 · Ley et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID64In AML patients with FLT3-ITD mutations, concurrent DNMT3A mutations (including R882) were associated with worse overall survival compared to those without DNMT3A mutation. PMID 21067377 · Ley et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | |||||
Data updated 19 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.
| 4 |
| accepted |
EID6380Demonstrates that activating mutations in CSF3R are sufficient to drive a myeloproliferative disorder resembling aCML and CNL that is sensitive to pharmacologic JAK inhibition. PMID 24081659 · Fleischman et al., 2013 · Open in CIViC |
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| 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 |
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| (oncogenic) | Acute Myeloid LeukemiaCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 3 | rejected | EID10340Samples CN-AML-16-T/CN-AML-NR-16-Dx and CN-AML-33-T/CN-AML-NR-33-Dx are included in COSMIC Genomic Mutation ID: COSV57250947 (https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=144210066) but sou… (full text at CIViC) PMID 30371878 · Tate et al., 2019 · Open in CIViC | civic |
| 〃 | Myelodysplastic SyndromeCURATED_BROADER | 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 |
| 〃 | Myeloid Neoplasm | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID10347Patient with an unspecified myeloid neoplasm had DDX41 c.232_233insAA/p.P78Qfs*3 (VAF=47%) and DDX41 c.1589G>A/p.G530D (VAF=5%), as well as SRSF2 c.284C>A/p.P95H (VAF=4%); germline/somatic origin coul… (full text at CIViC) PMID 32512379 · Aguilera-Diaz et al., 2020 · Open in CIViC | civic |
| 〃 | Myeloid Neoplasm | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID11433The G530D variant (assumed somatic based on VAFs between 9-22%) was identified in 5 AML patients from the Clinical Trial cohort and presumed germline variants included 2 with p.D140fs, p.E268fs, c.109… (full text at CIViC) PMID 35443031 · Duployez et al., 2022 · Open in CIViC | civic |
| 〃 | Myeloid Neoplasm | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID11434The G530D variant was identified in 7 patients with AML (one also had DLBCL), 2 patients with MDS, and 1 patient with pancytopenia (VAFs between 2.0-35.3%); presumed germline variants included none in… (full text at CIViC) PMID 35671390 · Li et al., 2022 · Open in CIViC | civic |
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | B | Supports Predisposition | 1 | rejected | EID10342The germline G530D case was previously described in PMID: 26712909. PMID 28637623 · Maciejewski et al., 2017 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | B | Supports Predisposition | 1 | rejected | EID10343The germline G530D case (Fig. 1A) was previously described in PMID: 26712909. PMID 35246110 · Shin et al., 2022 · Open in CIViC | civic |
| (oncogenic) | Myeloid Neoplasm | Oncogenic | B | Supports Oncogenicity | 1 | rejected | EID10348Review paper that summarizes 6 cases of somatic G530D and 1 family of germline G530D from other primary literature. PMID 34349893 · Wan et al., 2021 · Open in CIViC | civic |
| 〃 | Myeloid Neoplasm | Oncogenic | C | Supports Oncogenicity | 5 | submitted | EID10345Three patients in this French study acquired DDX41 G530D in their myeloid neoplasm. 1. 59yo French male (Patient #9) with aplastic anemia (bone marrow dysplasia and 2% BM blasts) that evolved into cyt… (full text at CIViC) PMID 31484648 · Sébert et al., 2019 · Open in CIViC | civic |
| 〃 | Myelodysplastic SyndromeCURATED_BROADER | 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 … (full text at CIViC) PMID 40764304 · Bi et al., 2025 · Open in CIViC | civic |
| 〃 | Myeloid Neoplasm | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID10344This study profiled DDX41 variants in 1529 patients with myeloid neoplasms, including MDS, AML, MPN, and MDS/MPN, using targeted next-generation sequencing of 114 hematologic malignancy-associated gen… (full text at CIViC) PMID 32307695 · Qu et al., 2021 · Open in CIViC | civic |
| Prognostic |
| B |
| Supports Poor Outcome |
| 3 |
| accepted |
EID188Young AML patients (415 patients; <60 years old) with any DNMT3A mutation (n=96) have shorter overall survival and relapse-free survival than patients with wildtype DNMT3A. PMID 22490330 · Ribeiro et al., 2012 · Open in CIViC |
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| 〃 | Myelodysplastic SyndromeCURATED_BROADER | 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 |
| Decitabine | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID1587Among 46 AML patients treated with decitabine, the response rate was 75% (6/8) among DNMT3A mutated and 34% (13/38) among DNMT3A wild-type patients (P=.008) PMID 22124213 · Metzeler et al., 2012 · Open in CIViC | civic |
| Supports Poor Outcome |
| 5 |
| accepted |
EID65In cytogenetically normal AML patients, DNMT3A R882 mutations are associated with lower overall and disease free survival as compared to patients with wild type DNMT3A. PMID 24512939 · El Ghannam et al., 2014 · Open in CIViC |
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| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 5 | accepted | EID112DNMT3A mutations (59% of which were R882) were associated with an intermediate risk cytogenetic profile, normal cytogenetic profile, and M4 and M5 FAB subtypes. PMID 21067377 · Ley et al., 2010 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support Poor Outcome | 4 | accepted | EID24There is no difference in the complete remission rate of de novo AML patients with DNMT3A mutation compared to those who are wild type for DNMT3A. PMID 22081665 · LaRochelle et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID25De novo AML patients with DNMT3A D882 mutation showed worse survival (event-free and overall) outcome than those without DNMT3A mutation. PMID 21067377 · Ley et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 4 | accepted | EID51In young AML patients (<60 years old), DNMT3A mutation status (60% of which were R882) was not predictive of overall and relapse free survival in patients with NPM1 mutations and wildtype FLT3 or wild… (full text at CIViC) PMID 22490330 · Ribeiro et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID66In older cytogenetically normal AML patients (>59 years), DNMT3A R882 mutation is prognostic for shorter disease free survival and overall survival compared to patients without the mutation. PMID 22291079 · Marcucci et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID67In young AML patients (<60 years old), DNMT3A mutations were associated with significantly reduced overall survival and relapse free survival in patients wildtype for NPM1 and FLT3. PMID 22490330 · Ribeiro et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID68In younger cytogenetically normal AML patients (<60 years), DNMT3A mutations other than R882 are prognostic for shorter disease free survival and overall survival compared to patients without the muta… (full text at CIViC) PMID 22291079 · Marcucci et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 4 | accepted | EID157Complete remission rates did not differ between patients with wildtype or mutant DNMT3A (62% of which affected R882) and cytogenetically normal AML. PMID 22291079 · Marcucci et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID187DNMT3A mutations (62% of which were R882) were associated with reduced disease-free survival in patients with cytogenetically normal AML. PMID 22291079 · Marcucci et al., 2012 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | accepted | EID4Young AML patients (<60 years old) with DNMT3A mutations (60% of which were R882) were older in age, had higher white blood cell counts and had higher platelet counts than patients wildtype for DNMT3A… (full text at CIViC) PMID 22490330 · Ribeiro et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | accepted | EID31DNMT3A R882 mutations were associated with older age, higher white blood cell count, and FAB M4 and M5 subtypes compared to wildtype DNMT3A in a cohort of cytogenetically normal AML patients. PMID 24512939 · El Ghannam et al., 2014 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 3 | accepted | EID49In a large cohort of AML patients (mean = 48 years), DNMT3A mutation (64.5% of which were R882) had no prognostic value on overall, relapse free and event free survival. PMID 23632886 · Gaidzik et al., 2013 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support Poor Outcome | 3 | accepted | EID50In a large cohort (n=1770) of AML patients (18-60 years old), DNMT3A mutation status (65.4% of which were R882) had no prognostic value for overall, relapse free and event free survival. This was true… (full text at CIViC) PMID 23632886 · Gaidzik et al., 2013 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID61In a large cohort of young AML patients (18-60 years old), DNMT3A R882 mutations were associated with reduced relapse free survival in the entire cohort as well as the subset of patients with cytogene… (full text at CIViC) PMID 23632886 · Gaidzik et al., 2013 · Open in CIViC | civic |