Acute Myeloid Leukemia

In patients with de novo AML who received intensive chemotherapy, ASXL1 mutations (N=51) were associated with shorter overall (P<0.001) and event free survival (P=0.012) compared to ASXL1 wild-type (N… (full text at CIViC)

PMID 23018865 · Schnittger et al., 2013 · Open in CIViC

Patients 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

In a meta-analysis of six studies totalling 3311 patients with non-M3 acute myeloid leukemia, those with mutations in ASXL1 had worse overall survival than wild-type patients (Hazard ratio 1.86, 95% C… (full text at CIViC)

PMID 25308295 · Shivarov et al., 2015 · Open in CIViC

BAX mutation was found in AML samples that were refractory to venetoclax. In in vitro experiments, BH-3 mimetics enriches for BAX mutation. Deficiency of BAX impairs efficacy of BH-3 mimetics targetin… (full text at CIViC)

PMID 36219880 · Moujalled et al., 2023 · Open in CIViC

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

Whole transcriptome RNA-seq was performed in pediatric patients with cytogenetically normal acute myeloid leukemia. Identified a recurrent cryptic inversion of chromosome 16, that gives rise to an in… (full text at CIViC)

PMID 23407549 · Masetti et al., 2013 · Open in CIViC

Acute megakaryoblastic leukemia (AMKL) is a rare subtype of AML. CBFA2T3/GLIS2 and NUP98/KDM5A are recurrent aberrations, occurring in similar frequencies as RBM15/MKL1 and KMT2A-rearrangements. In th… (full text at CIViC)

PMID 27114462 · de Rooij et al., 2016 · 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

A 54 year old woman was diagnosed with AML by morphology. 45% myeloblasts, 22% monoblasts, 30% eosinophils, and 3% plasma cells were detected and she was classified as AML-M4 with eosinophilia. RTPCR … (full text at CIViC)

PMID 10590083 · Cazzaniga et al., 1999 · Open in CIViC

Pathogenic variants in the CBL have been associated with disease, specifically, acute myeloid leukemia (AML). The authors present a case study of a 5-year-old male with a history of (infant) AML, who … (full text at CIViC)

PMID 33550024 · Norris et al., 2021 · 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 a study of 1,540 patients with Acute Myeloid Leukemia, 66 patients (4%) had a CEBPA (biallelic) mutation. In the absence of gene fusion products, patients with biallelic CEBPA mutations showed the… (full text at CIViC)

PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC

In young patients (age 16-60) with previously untreated, cytogenetically normal acute myeloid leukemia, CEBPA mutation was significantly associated with complete remission in multivariate analysis (od… (full text at CIViC)

PMID 18450602 · Schlenk et al., 2008 · Open in CIViC

In children with acute myeloid leukemia, those with mutations in CEBPA had better overall and event-free survival and decreased cummulative incidence of relapse.

PMID 19304957 · Ho et al., 2009 · Open in CIViC

Remission duration was significantly longer in younger (16-60), cytogenetically normal AML patients with CEBPA

PMID 14726504 · Fröhling et al., 2004 · Open in CIViC

This preclinical study establishes that the p30 isoform of CEBPA expressed as a result of N-terminal truncating mutations preferentially interacts with WRD5, a component of the SET/MLL complex. Knockd… (full text at CIViC)

PMID 26167872 · Grebien et al., 2015 · Open in CIViC

Samples from 395 patients with de novo or secondary AMP were processed by SNP arrays and chromothripsis was assessed using CTLP-Scanner. Patients were classified as either positive or negative for chr… (full text at CIViC)

PMID 29472722 · Fontana et al., 2018 · Open in CIViC

Chromothripsis defined a group of patients with poor prognosis. Samples from 395 patients with de novo or secondary AMP were processed by SNP arrays and chromothripsis was assessed using CTLP-Scanner.… (full text at CIViC)

PMID 29472722 · Fontana et al., 2018 · Open in CIViC

Tarlock et al. (2020) report the incidence of CSF3R mutations in a large cohort of pediatric AML; CSF3R mutations almost always cooccured mutually exclusively with either CEBPA variants or t(8;21). Th… (full text at CIViC)

PMID 32187354 · Tarlock et al., 2020 · Open in CIViC

DDX41 p.G530D (NM_016222.2) was detected in the germline of 5 family members. Family H's pedigree can be seen in Fig. 1H - which includes: 1) III.6 (proband) was diagnosed with AML at 50 (CBC paramete… (full text at CIViC)

PMID 26712909 · Lewinsohn et al., 2016 · Open in CIViC

Samples 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

In 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

In 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

DNMT3A 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