Acute Myeloid Leukemia with Genetic Abnormalities

In 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

In 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

In 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

This 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

This 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

This study analyses 45 new acute promyelocytic leukemia patients (22 male and 23 female). CDKN2B was found to be a negative prognostic biomarker for disease free survival (DFS). The 5-year DFS was 9.6… (full text at CIViC)

PMID 16307009 · Chim et al., 2006 · Open in CIViC

In this 2022 study, the authors highlighted the diagnostic significance of different types of CEBPA mutations in 4,708 adult AML patients, recruited into the Study Alliance Leukemia trials and spannin… (full text at CIViC)

PMID 34320176 · Taube et al., 2022 · Open in CIViC

In this 2022 study, the authors investigated the diagnostic significance of CEBPA mutations in AML, focusing on data from a large cohort of 1,028 patients aged 70 years or younger from the Japanese Mu… (full text at CIViC)

PMID 34448807 · Wakita et al., 2022 · Open in CIViC

This is a case report about an adult patient with acute promyelocytic leukemia (APL) who had relapse in a testicle prior to systemic relapse of APL. Retrospective analysis of the preserved samples fro… (full text at CIViC)

PMID 23816818 · Zou et al., 2013 · Open in CIViC

In a study of 53 APL patients treated with combination ATRA/anthracycline chemotherapy, patients with the FLT3 ITD mutation (n=10) had higher rates of relapse (30% vs. 2.5%), lower rates of remission … (full text at CIViC)

PMID 21461300 · Hong et al., 2011 · Open in CIViC

In a study of 171 APL patients treated with combination ATRA/anthracycline chemotherapy, FLT3 ITD mutations (n=35) were associated with lower 3-year OS compared to the FLT3 ITD-negative group (62% vs.… (full text at CIViC)

PMID 24981688 · Lucena-Araujo et al., 2014 · Open in CIViC

In a cohort of 84 de novo AML patients with a CBFB/MYH11 rearrangement and in 36 patients with a RUNX1/RUNX1T1 rearrangement, the FLT3 N676K mutation was identified in 5 and 1 patients, respectively (… (full text at CIViC)

PMID 23878140 · Opatz et al., 2013 · Open in CIViC

To 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

This study investigates the diagnostic importance of the translocation t(16;21)(p11;q22), resulting in the TLS/FUS::ERG fusion gene, in acute myeloid leukemia (AML). The authors utilized RT-PCR to det… (full text at CIViC)

PMID 9242552 · Kong et al., 1997 · Open in CIViC

This international retrospective study investigates the diagnostic features of acute myeloid leukemia (AML) with the t(16;21) translocation resulting in the FUS::ERG fusion gene in pediatric patients.… (full text at CIViC)

PMID 30150206 · Noort et al., 2018 · Open in CIViC

This is an international retrospective study by International Berlin-Frankfurt-Munster (I-BFM) AML study group including 543 pediatric AML patients from 18 countries diagnosed between 1995-2005. The a… (full text at CIViC)

PMID 23974201 · Coenen et al., 2013 · Open in CIViC

This manuscript is the first report of a unique expression profile in pediatric AML with KAT6A::CREBBP gene fusion (known also as MOZ::CBP or MYST3::CREBBP). Genomic studies and gene expression profil… (full text at CIViC)

PMID 20630590 · Serravalle et al., 2010 · Open in CIViC

This is a prospective clinical trial testing the safety and efficacy of adding dasatinib to chemotherapy (cytarabine-daunorubicin/HiDAC) in patients with Core Binding Factor (CBF) AML (i.e RUNX1-RUNX1… (full text at CIViC)

PMID 32092139 · Marcucci et al., 2020 · Open in CIViC

Compared to non-treated control cells, Kasumi-1 cells (KIT-mutated cell lines) that were exposed to nilotinib (30 uM) showed a 60% reduction in colony numbers. Further evidence to support cell death i… (full text at CIViC)

PMID 28720666 · Shen et al., 2017 · Open in CIViC

In this publication, the 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia is discussed. The MLL-MLLT3 translocation, along with other MLL tra… (full text at CIViC)

PMID 19357394 · Vardiman et al., 2009 · Open in CIViC

In this 2018 study the authors include 1,023 young people diagnosed with acute myeloid leukemia (AML). The age at presentation for the participants ranged from 0 to 29 years (median of 10 years). The … (full text at CIViC)

PMID 29227476 · Bolouri et al., 2018 · Open in CIViC

In this study, 17 patients with a variant pericentric inv(3) were identified from an institutional cytogenetics database, out of283 myeloid neoplasms with a MECOM rearrangement (MECOM-R) confirmed b… (full text at CIViC)

PMID 36672407 · Tang et al., 2023 · Open in CIViC

This study evaluates the frequency of MECOM rearrangements by fluorescence in situ hybridization (FISH) in 76 AML and 21 MDS patients with various 3q chromosomal aberrations. Patients were referred to… (full text at CIViC)

PMID 26815134 · Baldazzi et al., 2016 · Open in CIViC

In 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

In 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

In this 2010 study the authors included 5876 acute myeloid leukemia cases. The median age of the patients was 44 years (range 16 to 59 years). With cytogenetic analysis the t(3;5)(q21∼25;q31∼35) (like… (full text at CIViC)

PMID 20385793 · Grimwade et al., 2010 · Open in CIViC

In this 2024 study the authors analyzed RNA sequencing data from 887 pediatric acute myeloid leukemia (AML) cases. The median age of the cohort was 9.3 years (range 0 to 24 years). Oncogenic driver fu… (full text at CIViC)

PMID 38212634 · Umeda et al., 2024 · Open in CIViC

In 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

In 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

In this 2016 study the authors included 153 pediatric non-Down syndrome patients diagnosed with acute megakaryoblastic leukemia (AMKL) which is a rare subtype of acute myeloid leukemia. All patients w… (full text at CIViC)

PMID 27114462 · de Rooij et al., 2016 · Open in CIViC

In this 2011 study the authors included pediatric and adult cohorts of patients diagnosed with acute myeloid leukemia (AML). Initially, using RT-PCR, they detected the cytogenetically cryptic NUP98::N… (full text at CIViC)

PMID 21813447 · Hollink et al., 2011 · Open in CIViC

Mutations in the B2 domain of PML in the PML-RARa fusion have been shown to be associated with resistance to standard ATRA treatment in patients with acute promyelocytic leukemia.

PMID 23670176 · Tomita et al., 2013 · Open in CIViC

A novel seven amino acid deletion (p.K227_T233del) in the RARA region was detected in a refractory APL patient. The PML-RARA mutant was transduced into HL-60 cells and these in-vitro PML-RARA expressi… (full text at CIViC)

PMID 30289902 · Hattori et al., 2018 · Open in CIViC

The presence of the PML-RARa fusion protein is a diagnostic marker of Acute Promyelocytic Leukemia, or M3 AML.

PMID 7628753 · Diverio et al., 1995 · Open in CIViC

In this study, the authors explored the role of retinoic acid receptor alpha (RARα) gene rearrangements in acute promyelocytic leukemia (APL) and their connection to the t(15;17) chromosomal transloca… (full text at CIViC)

PMID 2170850 · de Thé et al., 1990 · Open in CIViC