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Variants & evidence
1,079 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 |
|---|---|---|---|---|---|---|---|---|
| U2AF1 MUTATION1 | ||||||||
| (prognostic) | Primary MyelofibrosisALIAS | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1262In a large study of patients with primary myelofibrosis evaluating mutations associated with anemia, 457 patients were evaluated for U2AF1 mutations. U2AF1 mutations were significantly associated with… (full text at CIViC) PMID 27058230 · Barraco et al., 2016 · Open in CIViC | civic |
| U2AF1 Q157P/R2 | ||||||||
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Does Not Support Positive | 3 | submitted | EID217Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF Q157P/R mutations and those who harbor wild type U2AF. PMID 23029227 · Qian et al., 2012 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 2 | accepted | EID338In patients with AML, those who harbor Q157P/R mutation of U2AF1 do not show a statistically significant difference in complete remission rate compared to those who harbor wild type U2AF1. PMID 23029227 · Qian et al., 2012 · Open in CIViC | civic |
| U2AF1 S34Y/F2 | ||||||||
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Does Not Support Positive | 3 | submitted | EID218Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF S34Y/F mutations and those who harbor wild type U2AF. PMID 23029227 · Qian et al., 2012 · Open in CIViC | civic |
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 2 | accepted | EID340In patients with AML, complete remission rates are not different between patients who harbor the U2AF1 S34Y/F mutation and those with wild type U2AF1. PMID 23029227 · Qian et al., 2012 · Open in CIViC | civic |
| UBTF UBTF-TD1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | submitted | EID12179UBTF tandem duplications frequently found in patients with relapsed AML. PMID 35176137 · Umeda et al., 2022 · Open in CIViC | civic |
| FGFR1 Fusion2 | ||||||||
| Sorafenib + SunitinibSubstitutes | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Does Not Support Sensitivity Response | 3 | accepted | EID7375In a preclinical trial, the AML cell line KG1 with the FGFR1OP2-FGFR1 fusion mutation was treated with the tyrosine kinase inhibitors (TKI) ponatinib, sorafenib, and sunitinib. Ponatinib was much more… (full text at CIViC) PMID 21482694 · Gozgit et al., 2011 · Open in CIViC | civic |
| Sunitinib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Does Not Support Sensitivity Response | 3 | rejected | EID7376In a preclinical trial, KG1 AML cell lines with the FGFR1OP2-FGFR1 fusion mutation were treated with the tyrosine kinase inhibitors (TKI) ponatinib, sorafenib, and sunitinib. Ponatinib was much more e… (full text at CIViC) PMID 21482694 · Gozgit et al., 2011 · Open in CIViC | civic |
| VHL D126N (c.376G>A)1 | ||||||||
| (predisposing) | Polycythemia Vera | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6856A case report revealed a 7 month old male infant of Bangladesh ethnicity with a novel homozygous VHL germline missense (c.376G>A; p.Asp126Asn) mutation with congenital polycythemia and dramatically el… (full text at CIViC) PMID 24729484 · Sarangi et al., 2014 · Open in CIViC | civic |
| VHL H191D (c.571C>G)1 | ||||||||
| (predisposing) | Polycythemia Vera | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6485A 12 year old white male child presented with polycythemia. Genetic testing confirmed a germline missense mutation found at c.571C>G (p.His191Asp) in the VHL gene. This is the only other case of a hom… (full text at CIViC) PMID 16617601 · Hajnzić et al., 2006 · Open in CIViC | civic |
| VHL R200W (c.598C>T)1 | ||||||||
| (predisposing) | Polycythemia Vera | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6470Plasma concentrations of Th1 and Th2 cytokines were analyzed using the Bio-Plex multiplex suspension array system in 34 homozygotes VHL patients, 4 heterozygous VHL patients, and 32 VHL wild-type part… (full text at CIViC) PMID 19062180 · Niu et al., 2009 · Open in CIViC | civic |
| PDGFRB Fusion2 | ||||||||
| Imatinib | Myeloproliferative NeoplasmCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID1498Twelve patients with BCR-ABL-negative chronic myeloproliferative disease and reciprocal translocations involving PDGFRB received imatinib for a median of 47 months (range, 0.1-60 months). Eleven had p… (full text at CIViC) PMID 16960151 · David et al., 2007 · Open in CIViC | civic |
| 〃 | Myeloproliferative NeoplasmCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11272In this phase II, open-label, single-arm trial, 106 patients with 40 different malignancies were enrolled (78.5% solid tumours, 21.5% hematologic malignancies), including seven with myeloproliferative… (full text at CIViC) PMID 18451237 · Heinrich et al., 2008 · Open in CIViC | civic |
| WT1 Exon 7 Mutation9 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 4 | accepted | EID163Rates of complete remission and refractory disease are not different in patients with WT1 mutations (69% exon 7, 15% exon 9) than those without in young (16-60) patients with cytogenetically normal AM… (full text at CIViC) PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 3 | accepted | EID162No differences in relapse-free or overall survival were identified between young (16-60) patients with or without WT1 mutations (69% exon 7, 15% exon 9) in cytogenetically normal AML. PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | |||||||
| WT1 Exon 9 Mutation2 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 4 | accepted | EID165Rates of complete remission and refractory disease are not different in patients with WT1 mutations (69% exon 7, 15% exon 9) than those without in young (16-60) patients with cytogenetically normal AM… (full text at CIViC) PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID210WT1 mutations were associated with shorter overall and disease free survival in a cohort of cytogenetically normal, young (<60) AML patients. PMID 18559874 · Paschka et al., 2008 · Open in CIViC | civic |
| WT1 Mutations1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | submitted | EID8563WT1 mutations (documented across the protein) appear more frequently and impact new sites in childhood AML as compared to adult AML. The co-occurrence of a FLT3-ITD with WT1 mutations (and/or NUP98-NS… (full text at CIViC) PMID 29227476 · Bolouri et al., 2018 · Open in CIViC | civic |
| FLT3 Fusion1 | ||||||||
| (diagnostic) | Myeloproliferative NeoplasmCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID13108A 64-year-old man presented with splenomegaly, peripheral eosinophilia, and bone marrow findings consistent with myeloproliferative neoplasm with eosinophilia. Cytogenetic analysis identified a balanc… (full text at CIViC) PMID 32866288 · Zhou et al., 2020 · Open in CIViC | civic |
| FGFR1 Fusion1 | ||||||||
| Midostaurin | Myeloproliferative NeoplasmCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID1104A t(8;13)(p11;q12) patient with ZNF198-FGFR1-induced progressive myeloproliferative disorder was treated with PKC412. Radiographic studies performed 3 months after initiation of therapy revealed marke… (full text at CIViC) PMID 15448205 · Chen et al., 2004 · Open in CIViC | civic |
| FLT3 Fusion1 | ||||||||
| (diagnostic) | Myeloproliferative NeoplasmCURATED_BROADER | Diagnostic | C | Supports Positive | 4 | submitted | EID13104This study reported two cases of myeloproliferative neoplasm with eosinophilia harboring a ZMYM2::FLT3 fusion, which was cytogenetically cryptic and resulted from an approximately 8-Mb inversion. Case… (full text at CIViC) PMID 28751768 · Jawhar et al., 2017 · Open in CIViC | civic |
| ZRSR2 MUTATION1 | ||||||||
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | Diagnostic | B | Supports Positive | 2 | submitted | EID7466ZRSR2 is part of the spliceosome. Mutation in SRSF2, SF3B1, U2AF1, ZRSR2, ASXL1, EZH2, BCOR, or STAG2 was >95% specific for the diagnosis of secondary-AML PMID 25550361 · Lindsley et al., 2015 · Open in CIViC | civic |
Data updated 13 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 |
EID203Patients with WT1 (69% exon 7, 15% exon 9) and FLT3-ITD mutations had significantly lower complete remission and higher refractory disease rates than those with wildtype WT1 and without FLT3-ITD follo… (full text at CIViC) PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC |
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| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID204WT mutations were associated with shorter overall and disease free survival in a cohort of cytogenetically normal, young (<60) AML patients. PMID 18559874 · Paschka et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID205WT1 mutations were a negative prognostic factor for overall survival in young (15-60+, median 45) patients with cytogenetically normal AML. PMID 18591546 · Virappane et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID206WT1 mutations were associated with a higher cumulative incidence of relapse and shorter relapse free survival in young (15-60+, median 45) patients with cytogenetically normal AML. PMID 18591546 · Virappane et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID201Mutations in WT1 were associated with increased risk of recurrence in young patients (15-50) with cytogenetically normal AML. PMID 19536888 · Renneville et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID202Mutations in WT1 were associated with a worse overall prognosis than patients wildtype for WT1 in young patients (15-50), primarily because of increased risk of disease recurrence. PMID 19536888 · Renneville et al., 2009 · Open in CIViC | civic |
| Cytarabine + DaunorubicinCombination | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Resistance | 3 | accepted | EID139WT1 mutations were associated with an inferior response to induction chemotherapy with a higher rate of resistant disease in young (15-60+, median 45) patients with cytogenetically normal AML. PMID 18591546 · Virappane et al., 2008 · Open in CIViC | civic |