Acute Leukemia

In an in vitro study which involved the use of a line of wild-type Ikaros-inducible IKZF1 mutant human precursor B cells (a model of BCR-ABL1+ precursor B cell acute lymphoblastic leukemia [pre-B ALL]… (full text at CIViC)

PMID 28190001 · Schjerven et al., 2017 · Open in CIViC

In this phase 1/2, open‐label, two‐part study, advanced leukemia patients with prior treatment failure (accelerated‐phase [AP, n = 79] chronic myeloid leukemia [CML], blast‐phase [BP, n = 64] CML, acu… (full text at CIViC)

PMID 26040495 · Gambacorti-Passerini et al., 2015 · Open in CIViC

SFPQ-ABL1fusion was identified in Ph-like ALL

PMID 31935290 · Harvey et al., 2020 · Open in CIViC

patients with Ph-like ALL had an inferior 5-year event-free survival compared with patients with non–Ph-like ALL (22.5% [95% CI, 14.9% to 29.3%; n = 155] v 49.3% [95% CI, 42.8% to 56.2%; n = 247], res… (full text at CIViC)

PMID 27870571 · Roberts et al., 2017 · Open in CIViC

In frame AGGF1:PDGFRb (exons 1-10 and exons 11-23) containing the PDGFRb tyrosine kinase domain, with no additional mutations, was observed in a 4 year old patient with T-ALL, found by RNAseq and conf… (full text at CIViC)

PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC

A 4 yr old boy presented with a history of 1 week with fatigue, weakness, fever and vomiting. Physical examination showed prominent hepatosplenomegaly and white blood cell count of 622.8x109/L with … (full text at CIViC)

PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC

Ba/F3 cells with AGGF1:PDGFRb showed IL3 independent growth. Patient derived cells and Ba/F3, both with AGGF1:PDGFRb, were treated with erlotinib, gefitinib, ibrutinib, and vandetanib. IC50 for inhibi… (full text at CIViC)

PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC

Primary mononuclear cells from a 4 year old patient with AGGF1:PDGFRb were treated with PDGFRb inhibitors, which resulted in cell death. IC50 for reduction in cell viability were approximately Ponatin…

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

Prior to dasatinib treatment, one imatinib-resistant patient with acute lymphoblastic leukemia had the BCR-ABL1 fusion with the E255K secondary variant in 3/12 bacterial clones generated using periphe… (full text at CIViC)

PMID 16775234 · Talpaz et al., 2006 · Open in CIViC

In a retrospective study of 45 imatinib-resistant or -intolerant Philadelphia chromosome BCR-ABLfusion positive (Ph+) chronic myeloid leukemia or Ph+ acute lymphoblastic leukemia (ALL) patients, a Ph+… (full text at CIViC)

PMID 17339191 · Soverini et al., 2007 · Open in CIViC

In an in vitro kinase study, the recombinant ABL1 H396P mutant kinase did not demonstrate resistance to bosutinib treatment at concentrations of 1μM and 10μM (activity %: 1 and 1) when compared to wil… (full text at CIViC)

PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC

In a retrospective study of 84 imatinib-resistant or -intolerant Philadelphia chromosome BCR-ABL1 fusion positive (Ph+) chronic myeloid leukemia (in accelerated-phase or with blast crisis) or Ph+ acut… (full text at CIViC)

PMID 16775234 · Talpaz et al., 2006 · Open in CIViC

In this open-label, phase II study, 36 patients with Ph-positive imatinib-resistant or intolerant ALL previously treated with standard induction or consolidation chemotherapy, or imatinib-resistant or… (full text at CIViC)

PMID 17496201 · Ottmann et al., 2007 · Open in CIViC

Bone marrow mononuclear cells (BM MNCs) were isolated from three acute lymphoblastic leukemia patients with the BCR-ABL1 T315I variant who were pretreated with various chemotherapeutics and dasatinib.… (full text at CIViC)

PMID 25686603 · Pemovska et al., 2015 · Open in CIViC

In a retrospective study of 45 imatinib-resistant or -intolerant Philadelphia chromosome BCR-ABL fusion positive (Ph+) chronic myeloid leukemia or Ph+ acute lymphoblastic leukemia (ALL) patients, pati… (full text at CIViC)

PMID 17339191 · Soverini et al., 2007 · Open in CIViC

Prior to dasatinib treatment, one imatinib-resistant patient with acute lymphoblastic leukemia had the BCR-ABL1 fusion with Y253H and Y253H/Q252R variants in 9/10 and 1/10 clones, respectively. Clones… (full text at CIViC)

PMID 16775234 · Talpaz et al., 2006 · Open in CIViC

A 47-year-old man was diagnosed with pre-B-cell acute lymphoblastic leukemia. FISH and nested PCR revealed the patient had a t(4;22)(q12;11) translocation that created an in-frame BCR-PDGFRA fusion. T… (full text at CIViC)

PMID 12944919 · Trempat et al., 2003 · Open in CIViC

A preclinical study investigated BTK inhibitor ibrutinib as a potential inhibitor for patients with pre-BCR + B cell acute lymphoblastic leukemia (B-ALL). In validating the significance of BTK and BLK… (full text at CIViC)

PMID 28031181 · Kim et al., 2017 · Open in CIViC

A preclinical study investigated BTK inhibitor ibrutinib as a potential inhibitor for patients with pre-BCR + B cell acute lymphoblastic leukemia (B-ALL). In validating the significance of BTK and BLK… (full text at CIViC)

PMID 28031181 · Kim et al., 2017 · 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

A somatic out-of-frame CD74intr::PDGFRB rearrangement joined CD74 exon 1 to PDGFRB exon 11 and retained 75 bp of CD74 intronic sequence containing a premature stop codon. Rather than producing a conve… (full text at CIViC)

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