Cancer Family
Malignant Bone Marrow Neoplasm
CI-CAN-00000226Explore in graph →
1,035 active trials28 approved drugs633 evidence items
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Cancer Family
CI-CAN-00000226Explore in graph →
Variants & evidence
1,124 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 |
|---|---|---|---|---|---|---|---|---|
| DDX41 G530D6 | ||||||||
| (diagnostic) | Myelodysplastic SyndromeCURATED_BROADER | 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) | 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 |
| (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) | 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 |
| 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 R88228 | ||||||||
| (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 | |||||
| DNMT3A R882P1 | ||||||||
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 5 | submitted | EID7228DNMT3A R882P somatic mutation, together with R882H, R882C and R882S were identified from Acute Myeloid Leukemia (AML) patients. And R882P, R882H and R882C were revealed as significant hotspot mutation… (full text at CIViC) PMID 21067377 · Ley et al., 2010 · Open in CIViC | civic |
| EGFR T790M1 | ||||||||
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Does Not Support Resistance | 2 | submitted | EID3812In an in vitro kinase study, the recombinant ABL1 M351T mutant kinase did not demonstrate resistance to bosutinib treatment at concentrations of 1μM and 10μM (activity %: 2 and 0) when compared to wil… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| ABL2 Fusion1 | ||||||||
| (oncogenic) | Acute Myeloid LeukemiaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID12491The HT93A cell line was established from a patient with acute myelogenous leukemia (AML-M3). The patient was a 66 yr old man and was successfully induced to first and second remission with combined ch… (full text at CIViC) PMID 10706884 · Iijima et al., 2000 · Open in CIViC | civic |
| FGFR3 Fusion1 | ||||||||
| Midostaurin | Myeloproliferative NeoplasmCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID10409PKC412 inhibited the growth of TEL-FGFR3 fusion-transformed Ba/F3 cells by 25% at 100 nM, 45% at 200 nM, and 85% at nM in the absence of interleukin 3. The N540D mutation in the context of FGFR3 was i… (full text at CIViC) PMID 16091734 · Chen et al., 2005 · Open in CIViC | civic |
| ETV6 Mutation1 | ||||||||
| (prognostic) | Myelodysplastic SyndromeCURATED_BROADER | 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 |
| NTRK2 Fusion1 | ||||||||
| Larotrectinib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID6396Rearrangements involving the neurotrophic receptor kinase genes (NTRK1, NTRK2, and NTRK3; hereafter referred to as TRK) produce oncogenic fusions in a wide variety of cancers in adults and children. I… (full text at CIViC) PMID 29920189 · Taylor et al., 2018 · Open in CIViC | civic |
| NTRK3 Fusion1 | ||||||||
| Entrectinib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID7994Two AML cell lines, IMS-M2 and M0-91, with the ETV6-NTRK3 fusion were treated with entrectinib. Sequencing of these cell lines found no other driver mutations in 265 other cancer genes suggesting the… (full text at CIViC) PMID 29237803 · Smith et al., 2018 · Open in CIViC | civic |
| EZH2 Mutation2 | ||||||||
| (prognostic) | Myelodysplastic SyndromeCURATED_BROADER | 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 |
| 〃 | Myelodysplastic SyndromeCURATED_BROADER | 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 |
Data updated 15 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.
| 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 |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID63DNMT3A R882 mutation was associated with reduced relapse free and overall survival in ELN-unfavorable, cytogenetically normal AMLs. PMID 23632886 · Gaidzik et al., 2013 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Negative | 3 | accepted | EID110Therapy-related AML was less common in patients with DNMT3A mutations (64.5% of which were R882) than patients wildtype for DNMT3A in a large cohort of younger (18-60) AML patients. PMID 23632886 · Gaidzik et al., 2013 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | accepted | EID114DNMT3A mutations (64.5% R882) were associated with older age, higher white blood cell count and cytogenetically normal AML in a large cohort of younger (18-60) AML patients. PMID 23632886 · Gaidzik et al., 2013 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 3 | accepted | EID115DNMT3A R882 mutations were associated with cytogenetically normal AML in a large cohort of younger (18-60) AML patients. PMID 23632886 · Gaidzik et al., 2013 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID170DNMT3A mutations were associated with achievement of complete remission in a large cohort of younger (18-60) AML patients. PMID 23632886 · Gaidzik et al., 2013 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID186Complete remission rate was not different between young AML patients (<60 years old) with or without DNMT3A mutations (60% of which were R882). PMID 22490330 · Ribeiro et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID189Young AML patients (415 patients; <60 years old) with DNMT3A R882 mutations (n=58) have shorter overall and relapse-free survival than patients with wildtype DNMT3A. PMID 22490330 · Ribeiro et al., 2012 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 2 | rejected | EID3DNMT3A R882 mutations occur most often in de novo AML patients with intermediate risk cytogenetics (39/194 intermediate risk patients vs 0/89 low and high risk). PMID 22081665 · LaRochelle et al., 2011 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support Better Outcome | 2 | accepted | EID113DNMT3A mutations (59% of which were R882) were associated with intermediate risk cytogenetics (including normal karyotype) and not favorable risk cytogenetic abnormalities (PML::RARA, RUNX1::RUNX1T1, … (full text at CIViC) PMID 21067377 · Ley et al., 2010 · Open in CIViC | civic |
| Daunorubicin | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Does Not Support Resistance | 4 | accepted | EID11Daunorubicin treatment resulted in similar overall survival and disease free survival in de novo AML patients with DNMT3A R882 mutation compared to those who do not harbor this mutation. PMID 22081665 · LaRochelle et al., 2011 · Open in CIViC | civic |
| Idarubicin | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID18Idarubicin increases the overall survival and disease free survival in de novo AML patients with DNMT3A R882 mutation compared to those who do not harbor this mutation. PMID 22081665 · LaRochelle et al., 2011 · Open in CIViC | civic |