Acute Leukemia

A 22-month-old patient with high-risk Philadelphia chromosome-like B-cell acute lymphoblastic leukemia harboring CD74intr::PDGFRB had 46.3% residual bone marrow blasts at the end of induction therapy.… (full text at CIViC)

PMID 36810896 · Sadras et al., 2023 · Open in CIViC

CDKN2A/B deletions were poor prognostic factors for both overall survival (OS) (HR = 2.15, 95% CI 1.82-2.54) and event-free survival (EFS)/disease-free survival (DFS)/relapse-free survival (RFS) (HR =… (full text at CIViC)

PMID 30592434 · Zhang et al., 2019 · Open in CIViC

A total of thirteen studies including 2857 patients were combined in a meta-analysis. Combined HRs suggested that CDKN2A/B deletions were poor prognostic factors for both overall survival (OS) (HR = 2… (full text at CIViC)

PMID 30592434 · Zhang et al., 2019 · 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

Mullighan et al analyzed a cohort of 71 diagnosis-relapse cases and 270 acute leukaemia cases that did not relapse. The authors found that 18.3% of relapse cases had sequence or deletion mutations of … (full text at CIViC)

PMID 21390130 · Mullighan et al., 2011 · Open in CIViC

In vitro expression experiments of CRLF2 F232C in murine BaF3 cells and human UT7 cells show that this mutation leads to constitutive dimerization and cytokine-independent signaling. This leads to tra… (full text at CIViC)

PMID 20018760 · Yoda et al., 2010 · Open in CIViC

CRLF2 is overexpressed in 7% of B cell ALL. In KZF1-mutated, BCR-ABL1-negative ALL, also refers as “Ph-like ALL” , 50 % of these “Ph-like ALL” carry rearrangements of CRLF2 (CRLF2r). In particular, IG… (full text at CIViC)

PMID 22897847 · Roberts et al., 2012 · Open in CIViC

To investigate the therapeutic potential of JAK inhibitors in pediatric B-ALL, the authors examined the efficacy of rapamycin in murine xenograft models of 8 pediatric B-ALL cases. Five xenografts (I … (full text at CIViC)

PMID 22955920 · Maude et al., 2012 · Open in CIViC

Lack of association of CRLF2 V2del with any clinical value in acute lymphocytic leukemia.

PMID 29449437 · Sinclair 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 adult patients with early (n = 30), cortical (n = 30), mature (n = 3) or unknown (n = 8) T-cell acute lymphoblastic leukemia, those with mutations in DNMT3A (n=12) had shorter overall survival than… (full text at CIViC)

PMID 23341344 · Grossmann et al., 2013 · 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

AML patients with DNMT3A mutations (59% of which were R882) showed worse survival (event-free and overall) outcome than those without DNMT3A mutation.

PMID 21067377 · Ley et al., 2010 · Open in CIViC

In AML patients with FLT3-ITD mutations, concurrent DNMT3A mutations (including R882) were associated with worse overall survival compared to those without DNMT3A mutation.

PMID 21067377 · Ley et al., 2010 · Open in CIViC