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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 |
|---|---|---|---|---|---|---|---|---|
| RARA Fusion2 | ||||||||
| Tretinoin | Acute Promyelocytic Leukemia | Predictive | B | Supports Sensitivity Response | 5 | accepted | EID316Fusion protein degradation is accelerated upon ATRA treatment of acute promyelocytic cells at pharmalogical concentrations. PMID 8674046 · Yoshida et al., 1996 · Open in CIViC | civic |
| 〃 | Acute Promyelocytic Leukemia | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1519A 39-year old woman who presented with acute myeloid leukemia revealed a complicated genetic profile using conventional metaphase cytogenetics and FISH analysis. Whole genome sequencing elucidated a … (full text at CIViC) PMID 21505136 · Welch et al., 2011 · Open in CIViC | civic |
| PML A216T + RARA FusionRARAPML1 | ||||||||
| Arsenic Trioxide | Acute Promyelocytic Leukemia | Predictive | B | Supports Resistance | 4 | submitted | EID8179ive point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these patients was amplified using polymerase chain… (full text at CIViC) PMID 26537301 · Liu et al., 2016 · Open in CIViC | civic |
| PML A216V + RARA FusionRARAPML2 | ||||||||
| Arsenic Trioxide | Acute Promyelocytic Leukemia | Predictive | B | Supports Resistance | 4 | accepted | EID8177Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC) PMID 26537301 · Liu et al., 2016 · Open in CIViC | civic |
| Tretinoin | Acute Promyelocytic Leukemia | Predictive | C | Supports Resistance | 4 | accepted | EID1093The mutation A216V in the B2 domain of PML in the PML-RARa fusion was seen in a patient with ATRA-resistant acute promyelocytic leukemia. PMID 21613260 · Goto et al., 2011 · Open in CIViC | civic |
| PML L218P + RARA FusionRARAPML1 | ||||||||
| Tretinoin | Acute Promyelocytic Leukemia | Predictive | C | Supports Resistance | 3 | accepted | EID1094The PML L218P mutation in the PML-RARa fusion was observed in a patient with previously ATRA-treated, relapsed acute promyelocytic leukemia refractory to arsenic trioxide. PMID 21613260 · Goto et al., 2011 · Open in CIViC | civic |
| RARA Fusion + PML S214LRARAPML1 | ||||||||
| Arsenic Trioxide | Acute Promyelocytic Leukemia | Predictive | B | Supports Resistance | 4 | submitted | EID8178Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC) PMID 26537301 · Liu et al., 2016 · Open in CIViC | civic |
| RARA Fusion2 | ||||||||
| (diagnostic) | Acute Promyelocytic Leukemia | Diagnostic | C | Supports Positive | 2 | submitted | EID12613The authors report a case of a 6-year-old child with leukemia and the clinical and morphologic characteristics of acute promyelocytic leukemia (APL), but without evidence of the expected t(15;17) or a… (full text at CIViC) PMID 34432867 · Astolfi et al., 2021 · Open in CIViC | civic |
| 〃 | Acute Promyelocytic Leukemia | Diagnostic | C | Supports Positive | 2 | submitted | EID12627The authors report a TTMV-RARA (viral fusion) in a 39-year-old patient with leukemia and blasts that were APL-like with increased promyelocytes. The fusion was identified by targeted long read sequenc… (full text at CIViC) PMID 35420676 · Sala-Torra et al., 2022 · Open in CIViC | civic |
| MRTFA Fusion6 | ||||||||
| (diagnostic) | Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1ALIAS | Diagnostic | A | Supports Positive | 5 | submitted | EID8513AML (megakaryoblastic) with t(1;22)(p13.3;q13.3);RBM15-MKL1, is a defined diagnostic subgroup in the 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukem… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| (prognostic) | Acute Megakaryoblastic LeukemiaALIAS | Prognostic | B | Supports Better Outcome | 4 | submitted | EID8512AML (megakaryoblastic) with t(1;22)(p13.3;q13.3);RBM15-MKL, is a defined subgroup of AML in the WHO 2016 classification of myeloid neoplasms and acute leukemias. In this manuscript by O'Brien et al, o… (full text at CIViC) PMID 22918081 · O'Brien et al., 2013 · Open in CIViC | civic |
| 〃 | Acute Megakaryoblastic Leukemia | |||||||
| RET V804M1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | submitted | EID7516In an in vitro kinase study, the recombinant RET V804M mutant kinase demonstrated resistance to dasatinib treatment at concentrations of 1μM and 10μM (activity %: 99 and 87) when compared to wild type… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| RUNX1 A107P1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Predisposition | 5 | accepted | EID1876A pedigree of 3 generations and 8 individuals with familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) was assessed for mutation in RUNX1 exons 3, 4, 5 and 6. Mutation was fo… (full text at CIViC) PMID 12060124 · Walker et al., 2002 · Open in CIViC | civic |
| RUNX1 A28fsX109 (c.83insG)1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | N/A N/A | 2 | submitted | EID7972A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (B) of 4 generations with 15 individuals was evaluated by sequencing as more than 1 first degree relative had M… (full text at CIViC) PMID 18723428 · Owen et al., 2008 · Open in CIViC | civic |
| RUNX1 D198Y1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID1875In a pedigree with familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) spanning three generations, five members of generation II were sequenced at exons 3, 4 and 5 of th… (full text at CIViC) PMID 11675361 · Buijs et al., 2001 · Open in CIViC | civic |
| RUNX1 D96H (c.238G>C)1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Predisposition | 3 | submitted | EID7973A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (C) of 3 generations with 7 individuals was evaluated by sequencing as more than 1 first degree relative had MD… (full text at CIViC) PMID 18723428 · Owen et al., 2008 · Open in CIViC | civic |
| RUNX1 G336fs563X (c.1007_1013del)1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | N/A N/A | 2 | submitted | EID7971A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (A) of 2 generations with 6 individuals was evaluated by sequencing as more than 1 first degree relative had MD… (full text at CIViC) PMID 18723428 · Owen et al., 2008 · Open in CIViC | civic |
| RUNX1 K83E1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Predisposition | 4 | accepted | EID1871A pedigree of 48 individuals with multiple instances of bleeding and platelet disorders and 8 cases of leukemia showed an A>G substitution in RUNX1 exon 3 which segregated with Familial Platelet Disor… (full text at CIViC) PMID 11830488 · Michaud et al., 2002 · Open in CIViC | civic |
| RUNX1 K90fsX1011 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | N/A N/A | 2 | submitted | EID7974A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (D) of 2 generations with 7 individuals was evaluated by sequencing as more than 1 first degree relative had MD… (full text at CIViC) PMID 18723428 · Owen et al., 2008 · Open in CIViC | civic |
| RUNX1 Mutation5 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID429In 878 non-APL patients with AML, those who had mutations in RUNX1 (N=53) had higher rates of refractory disease than those without (30% versus 19%; P = 0.047). PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID430In 878 non-APL patients with AML (18-60 years), those who had mutations in RUNX1 (N=53) had shorter event-free survival (8% vs 30%, P<0.0001) and relapse-free survival (26% vs 44%, P=0.022) relative t… (full text at CIViC) PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | ||||||
| RUNX1 R135FSX1771 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Predisposition | 4 | accepted | EID1873A pedigree (Pedigree number 2) with familial platelet disorder and acute myeloid leukemia (FPD/AML) was studied and a one-base deletion was found in RUNX1 splice donor site. This resulted in use of a … (full text at CIViC) PMID 11830488 · Michaud et al., 2002 · Open in CIViC | civic |
| RUNX1 R292X (c.877C>T)1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | N/A N/A | 2 | submitted | EID7975A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (E) of 2 generations with 5 individuals was evaluated by sequencing as more than 1 first degree relative had MD… (full text at CIViC) PMID 18723428 · Owen et al., 2008 · Open in CIViC | civic |
| RUNX1T1 Fusion6 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | A | Supports Better Outcome | 5 | submitted | EID8558In the current update of The WHO classification for myeloid malignancies, AML with t(8;21)(q22;q22.1); RUNX1-RUNX1T1, defines a distinct subgroup of AML with recurrent genetic abnormalities. RUNX1-RUN… (full text at CIViC) PMID 27895058 · Döhner et al., 2017 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1ALIAS | Prognostic | A | Supports Better Outcome | 5 | accepted | EID11881This study evaluated the independent prognostic significance of pretreatment cytogenetics based on the large Medical Research Council (MRC) AML 10 trial which enrolled a total of 1,966 patients (364 c… (full text at CIViC) PMID 9746770 · Grimwade et al., 1998 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid Leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1 | |||||||
| RUNX1 T148HFSX91 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID1882A 2 year old male presented with easy bruising and bleeding. At 6 years old he was diagnosed with AML. The patients mother showed mile thrombocytopenia. Sequencing of RUNX1 exons 3-6 revealed an 8 bp … (full text at CIViC) PMID 18478040 · Béri-Dexheimer et al., 2008 · Open in CIViC | civic |
| RUNX1 Y260*1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Predisposition | 3 | accepted | EID1872A pedigree (Pedigree number 3) with 24 members with multiple instances of bleeding disorder and three cases of familial leukemia showed a C>A substitution in exon 7B of the transcription factor RUNX1.… (full text at CIViC) PMID 11830488 · Michaud et al., 2002 · Open in CIViC | civic |
| SETBP1 G870S1 | ||||||||
| (oncogenic) | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Oncogenic | D | Supports Oncogenicity | 3 | accepted | EID840Atypical Chronic Myeloid Leukemia has the same symptoms as CML, but it lacks the BCR-ABL1 fusion. The researchers transfected 293T cells with SETBP1 G870S, a variant found to be associated with poor p… (full text at CIViC) PMID 23222956 · Piazza et al., 2013 · Open in CIViC | civic |
| SRSF2 MUTATION1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID1514Patients with Acute Myeloid Leukemia showed an synergistic mortality rate with ASXL1 and SRSF2 co-mutations such that individual mutations of either ASXL1 or SRSF2 resulted in ~20% probability of surv… (full text at CIViC) PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC | civic |
| STAG2-AS1 p.His421Thrfs*41 | ||||||||
| (oncogenic) | Acute Myeloid LeukemiaCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID12484The STAG2 p.His421Thrfs*4 mutation is a truncating frameshift variant located in exon 14 of the STAG2 gene, a core component of the cohesin complex. Truncating mutations in STAG2 are recurrent across … (full text at CIViC) PMID 22135298 · Hornbeck et al., 2012 · Open in CIViC | civic |
| STAG2 MUTATION2 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID6947Sequencing of 93 secondary acute myeloid leukemias (AML) compared to 180 TCGA de novo AMLs identified STAG2 mutations had >95% sensitivity for being diagnostic of secondary AML, identifying a patient … (full text at CIViC) PMID 25550361 · Lindsley et al., 2015 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support Poor Outcome | 2 | accepted | EID7451In a retrospective cohort study of 389 uniformly treated acute myeloid leukemia (AML) patients, 23 patients harbored mutations in genes of the cohesin complex including 5 who harbored mutations in STA… (full text at CIViC) PMID 24335498 · Thol et al., 2014 · Open in CIViC | civic |
| TEK R849W1 | ||||||||
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | submitted | EID7517In an in vitro kinase study, the recombinant TEK R849W mutant kinase demonstrated resistance to bosutinib treatment at concentrations of 1μM and 10μM (activity %: 77 and 35) when compared to wild type… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| TET2 Mutation5 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 4 | accepted | EID415In a cohort of 783 young adult patients with acute myeloid leukemia, those with TET2 mutations did not have significantly different rates of complete recovery, refractory disease, or hypoplastic death… (full text at CIViC) PMID 22430270 · Gaidzik et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID419In patients with cytogenetically normal acute myeloid leukemia, those in the intermediate-I risk group with TET2 mutations had higher rates of complete remission. PMID 22430270 · Gaidzik et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | ||||||
| TP53 Mutation1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1018In a study of 97 patients with AML treated with HSCT, 40 had TP53 mutations comprising a total of 44 mutations. Patients with a TP53 mutation had a reduced three year probability of overall survival … (full text at CIViC) PMID 26771088 · Middeke et al., 2016 · Open in CIViC | civic |
Data updated 17 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 Better Outcome |
| 4 |
| submitted |
EID8514In this manuscript, data and clinical samples from 153 newly diagnosed non-Down syndrome pediatric AMKL cases were analyzed. Patients samples were screened for the recurrent molecular aberrations in N… (full text at CIViC) PMID 27114462 · de Rooij et al., 2016 · Open in CIViC |
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| (diagnostic) | Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12260In this study, the authors investigated the association of the RBM15::MRTFA fusion with acute megakaryoblastic leukemia (AMKL, FAB-M7), particularly in non-Down syndrome infants and young children. A… (full text at CIViC) PMID 11431691 · Ma et al., 2001 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12261In this study, the authors explored the genomic landscape of acute megakaryoblastic leukemia (AMKL) in patients without Down syndrome (non-DS-AMKL). AMKL is a rare and heterogeneous subtype of acute m… (full text at CIViC) PMID 28112737 · de Rooij et al., 2017 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12262In this study, the authors performed an international retrospective analysis of 490 pediatric patients (≤18 years) with non–Down syndrome acute megakaryoblastic leukemia (non-DS-AMKL), a rare and aggr… (full text at CIViC) PMID 26215111 · Inaba et al., 2015 · Open in CIViC | civic |
| B |
| Supports Poor Outcome |
| 4 |
| accepted |
EID509In a study of patients with cytogenically normal acute myeloid leukemia, RUNX1 mutations were more frequent in patients 60 years old or older. Patients with RUNX1 mutations had shorter disease-free (y… (full text at CIViC) PMID 22753902 · Mendler et al., 2012 · Open in CIViC |
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| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1558In patients with acute myeloid leukemia, those with RUNX1 mutations (n=245) had significantly worse outcomes when compared to those with RUNX1 wild-type alleles (n=2,194). The complete remission rate… (full text at CIViC) PMID 27137476 · Gaidzik et al., 2016 · Open in CIViC | civic |
| Cytarabine | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Resistance | 4 | accepted | EID411In non-APL patients with AML (age 18-60), those who had mutations in RUNX1 had significantly shorter relapse-free survival following conventional post-remission treatment (repetitive cycles of high-do… (full text at CIViC) PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC | civic |
| Diagnostic |
| A |
| Supports Positive |
| 4 |
| accepted |
EID11880This study evaluated the independent prognostic significance of pretreatment cytogenetics based on the large Medical Research Council (MRC) AML 10 trial which enrolled a total of 1,966 patients (364 c… (full text at CIViC) PMID 9746770 · Grimwade et al., 1998 · Open in CIViC |
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| 〃 | Acute Myeloid Leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1ALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11878In this 1992 study, the authors isolated a clone containing the junction region of the (8;21)(q22;q22) translocation characteristic for acute myeloid leukemia with t(8;21). Using probes from the junct… (full text at CIViC) PMID 1391946 · Erickson et al., 1992 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1ALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11879The researchers analyzed immunophenotype in 30 cases of newly diagnosed pediatric acute myeloid leukemia (AML) exhibiting M2 morphology per French-American-British classification. They correlated thes… (full text at CIViC) PMID 1467524 · Hurwitz et al., 1992 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1ALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11882The authors of this 1997 paper compared morphologic and cytochemical features between 30 acute myeloid leukemia subtype M2 (AML-M2) patients with t(8;21) and 50 AML-M2 patients without t(8;21). Morp… (full text at CIViC) PMID 9180287 · Nakamura et al., 1997 · Open in CIViC | civic |
| B |
| Supports N/A |
| 4 |
| accepted |
EID421In patients with cytogenetically normal acute myeloid leukemia, those in the intermediate-I risk group with TET2 mutations did not have significantly different rates of event-free survival, complete r… (full text at CIViC) PMID 21343549 · Metzeler et al., 2011 · Open in CIViC |
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| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID426In patients classified as intermediate-risk via cytogenetics, TET2 mutations have been shown to be correlated with poor prognosis. PMID 21828143 · Chou et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID427In patients with cytogenetically normal acute myeloid leukemia, those in the ELN favorable-risk group with TET2 mutations had shorter event-free survival, lower rates of complete remission, and shorte… (full text at CIViC) PMID 21343549 · Metzeler et al., 2011 · Open in CIViC | civic |