Subtype
AML with Recurrent Genetic Abnormalities
CI-CAN-00009467Explore in graph →
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Subtype
CI-CAN-00009467Explore in graph →
Variants & evidence
22 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 |
|---|---|---|---|---|---|---|---|---|
| ABL1 Fusion3 | ||||||||
| (diagnostic) | Acute Myeloid Leukemia with BCR-ABL1 | Diagnostic | B | Supports Positive | 4 | accepted | EID12046In this 2007 study, the authors identified 38 cases of t(9;22)(q34;q11), also known as Philadelphia positive (Ph+), acute leukemia of myeloid origin. However, 18 cases were excluded as they displayed … (full text at CIViC) PMID 17369142 · Soupir et al., 2007 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with BCR-ABL1 | Diagnostic | B | Supports Positive | 4 | accepted | EID12047In this 1996 study, the authors identified 11 cases of t(9;22)(q34;q11), also known as Philadelphia chromosome [BCR::ABL1], positive acute myeloid leukaemia (AML) from approximately 700 cases that had… (full text at CIViC) PMID 8952155 · Cuneo et al., 1996 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with BCR-ABL1 | Diagnostic | B | Supports Positive | 4 | accepted | EID12048In this 2010 study, the authors included 5876 acute myeloid leukaemia (AML) cases with successful karyotype analysis. The cytogenetic aberration t(9;22)(q34;q11) [known to result in a BCR::ABL1 fusion… (full text at CIViC) PMID 20385793 · Grimwade et al., 2010 · Open in CIViC | civic |
| MYH11 Fusion4 | ||||||||
| (prognostic) | Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11ALIAS | Prognostic | B | Supports Better Outcome | 5 | submitted | EID11788This 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 inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11ALIAS | Diagnostic | B | Supports Positive | 5 | accepted | EID11791This is a Cancer and Leukemia Group B study on core binding factor (CBF) AML (2005): AML with RUNX1::RUNX1T1 (303 adult patients who received treatment) vs AML with CBFB::MYH11 (164 patients who recei… (full text at CIViC) PMID 16110030 · Marcucci et al., 2005 · Open in CIViC | civic |
| 〃 | ||||||||
| FLT3 N841I1 | ||||||||
| (oncogenic) | Acute Myeloid Leukemia with NPM1 MutationALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID12508To study the mutational spectrum in older AML patients over, 22 cases of NPM1-mutated de novo AML in patients older than 75 were sequenced and 76 mutations (50 different variants) were found across 16… (full text at CIViC) PMID 33711909 · Pettersson et al., 2021 · Open in CIViC | civic |
| NPM1 EXON 11 MUTATION2 | ||||||||
| Revumenib | Acute Myeloid Leukemia with NPM1 MutationALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID13286In the phase 2 portion of AUGMENT-101 (NCT04065399), an open-label, single-arm, multicentre study, patients with relapsed or refractory NPM1-mutated acute myeloid leukaemia received the oral menin inh… (full text at CIViC) PMID 40332046 · Arellano et al., 2025 · Open in CIViC | civic |
| Ziftomenib | Acute Myeloid Leukemia with NPM1 MutationALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID13285In the registration-enabling phase II portion of KOMET-001 (NCT04067336), an open-label, single-arm, multicentre trial, 92 adults with relapsed or refractory NPM1-mutated acute myeloid leukaemia (NPM1… (full text at CIViC) PMID 40997296 · Wang et al., 2025 · Open in CIViC | civic |
| NPM1 MUTATION3 | ||||||||
| (diagnostic) | Acute Myeloid Leukemia with NPM1 MutationALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12494In this 2005 study, immunohistochemical staining was used to assess the subcellular localization of NPM in 1,835 paraffin-embedded tumor specimens, including 591 from primary AML patients (ages 15–60)… (full text at CIViC) PMID 15659725 · Falini et al., 2005 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with NPM1 MutationALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID108In this publication, the role of NPM1 mutations in defining a distinct subset of acute myeloid leukemia (AML) was investigated. Among 1,485 adult AML patients enrolled in the multicenter AML96 protoco… (full text at CIViC) PMID 16455956 · Thiede et al., 2006 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with NPM1 Mutation | |||||||
| MRTFA Fusion4 | ||||||||
| (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 |
| 〃 | 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 |
| 〃 | ||||||||
| RUNX1T1 Fusion5 | ||||||||
| (prognostic) | 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-RUNX1T1ALIAS | 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 | civic |
| 〃 | ||||||||
Data updated 12 minutes 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.
| Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11ALIAS |
| Diagnostic |
| B |
| Supports Positive |
| 5 |
| accepted |
EID11792A metanalysis study from the German AML Intergroup (2004) on AML-CBF included 8 German multicenter treatment trials enrolling patients with AML with RUNX1::RUNX1T1 (191 adult patients) and CBFB::MYH11… (full text at CIViC) PMID 15289486 · Schlenk et al., 2004 · Open in CIViC |
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| 〃 | Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11ALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11793A small study on 18 patients of AML with inv(16)(p13q22) [now known to correspond to CBFB::MYH11 fusion] identified abnormal eosinophils as a unique morphologic characteristic of this entity. 76.5% ac… (full text at CIViC) PMID 6577285 · Le Beau et al., 1983 · Open in CIViC | civic |
| Diagnostic |
| B |
| Supports Positive |
| 3 |
| accepted |
EID12495In this 2005 study, the authors investigated the prevalence and prognostic impact of NPM1 mutation status in 300 adult patients with AML (16-60 years of age) with normal cytogenetics. The diagnostic b… (full text at CIViC) PMID 16051734 · Döhner et al., 2005 · Open in CIViC |
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| 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 |
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| 〃 | 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 |
| 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 |
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| 〃 | 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 |