Leukemia

A panel of 18 mutations representing 85% of known mutations seen in imatinib CML patents were used to evaluate the effectiveness of drug binding. All mutations were compared with non-mutated BCR-ABL p… (full text at CIViC)

PMID 19075254 · Redaelli et al., 2009 · Open in CIViC

In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba/F3 cells carrying the BCR-ABL1 variant showed similar incorporation when harboring fusions with the… (full text at CIViC)

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

In an in vitro study, pro-B Ba/F3 cell line expressing Y253H mutation in the ABL1 portion of the BCR-ABL1 fusion protein (overexpression) demonstrated resistance to axitinib treatment (IC50: 1069.7nM)… (full text at CIViC)

PMID 26582647 · Zabriskie et al., 2016 · Open in CIViC

In an in vitro study, pro-B Ba/F3 cell line expressing a compound mutant of both E255V and Y253H mutations in the ABL1 portion of the BCR-ABL1 fusion protein demonstrated resistance to axitinib treatm… (full text at CIViC)

PMID 26582647 · Zabriskie et al., 2016 · 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

BIRC3 mutations were identified in 23 of 919 screened CLLs. They are strongly linked to non-mutated IGHV genes (18/23, P = 0.0001), a widely recognized prognostic signature for poor outcome.

PMID 24943832 · Baliakas et al., 2015 · 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

In 47 patients with Hairy Cell Leukemia, sequencing discovered a V600E mutation in all 47 of the sequenced patients.

PMID 21663470 · Tiacci et al., 2011 · Open in CIViC

In these two phase II studies (Italy and U.S. locations), BRAF V600E-mutant hairy-cell leukemia was treated with vemurafenib at a dose of 960 mg twice daily to investigate its efficacy. The overall re… (full text at CIViC)

PMID 26352686 · Tiacci et al., 2015 · Open in CIViC

Two clinical trials evaluated the effects of vemurafenib in 54 patients with BRAF (V600E) positive hairy-cell leukemia. The overall response rate was 98% with 19/54 having a complete response and 34/…

The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC)

PMID 32232486 · Lucas et al., 2020 · Open in CIViC

Whole exome sequencing of 6 chronic lymphocytic leukemia patients with acquired resistance to ibrutinib determined 5/6 patients harbored a C481S mutation in BTK.

PMID 24869598 · Woyach et al., 2014 · Open in CIViC

In a trial of 308 patients with chronic lymphocytic leukemia treated with ibrutinib, 31 discontinued treatment due to disease progression (13 CLL progression, 18 Richter’s transformation). 11/13 patie… (full text at CIViC)

PMID 26182309 · Maddocks et al., 2015 · Open in CIViC

The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC)

PMID 32232486 · Lucas et al., 2020 · 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 patient cohort of 308 individuals was created from trials of Ibrutinib in CLL (see Maddocks 2015, PMID: 26182309). A secondary cohort was created from a prospective collection of 112 patients. 83/… (full text at CIViC)

PMID 28418267 · Woyach et al., 2017 · Open in CIViC

Case report of a patient with CLL and Richter-transformed relapse under ibrutinib (after an initial partial response for 10 months). Sequencing of sequential samples of this patient revealed a novel B… (full text at CIViC)

PMID 27626698 · Sharma et al., 2016 · 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

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