Malignant Bone Marrow Neoplasm

In a phase II study of 60 imatinib-resistant patients with BCR-ABL mutations, 6 had Y253H mutations

PMID 17264298 · Guilhot et al., 2007 · Open in CIViC

In a study of 39 chronic phase CML patients with BCR-ABL variants, Y253H was seen in 6 imatinib-resistant patients that were also resistant or intolerant to dasatinib and/or nilotinib treatment. Nine … (full text at CIViC)

PMID 22371878 · Khoury et al., 2012 · Open in CIViC

In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expressed p210 BCR-ABL fusion in Ba/F3 cells using N-ethyl-N-nitrosourea mutagenesis. Resulting clones were … (full text at CIViC)

PMID 16772610 · Bradeen et al., 2006 · Open in CIViC

In this open-label, phase II registration trial, patients that were imatinib resistant or intolerant underwent nilotinib monotherapy. Within 12 months of nilotinib therapy, there was no significant di… (full text at CIViC)

PMID 19652056 · Hughes et al., 2009 · Open in CIViC

In an in vitro study, a Ba/F3-p210BCR-ABL1 cell line was ENU-mutated and exposed to graded concentrations of imatinib, nilotinib or dasatinib to identify resistance mutations. The Y253H mutation in th… (full text at CIViC)

PMID 16772610 · Bradeen et al., 2006 · 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

Study of 428 patients with primary Myelofibrosis found that those patients harboring CALR exon 9 mutations displayed significantly longer survival than those with JAK2 mutations (HR: 2.5, median survi… (full text at CIViC)

PMID 25037629 · Tefferi et al., 2014 · Open in CIViC

In patients with primary myelofibrosis CALR mutations were associated with improved median survival. For 277 patients, CALR mutated, ASXL1 wildtype patients (median survival, 10.4 years, N=46); CALR w… (full text at CIViC)

PMID 24496303 · Tefferi et al., 2014 · Open in CIViC

Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues 2016.

PMID 27069254 · Arber 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

Three patients displayed variable developmental conditions with predisposition to JMML. All cases included a copy neutral loss of heterozygosity of the 11q23 chromosomal region, encompassing the CBL l… (full text at CIViC)

PMID 20543203 · Pérez et al., 2010 · 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

Study found that mutations in CSF3R are enriched in patients with Chronic Neutrophilic Leukemia (CNL) or Atypical Chronic Myeloid Leukemia (16/27, 59%) when compared to other blood disorders (AML=1/29… (full text at CIViC)

PMID 23656643 · Maxson et al., 2013 · Open in CIViC

Study found that mutations in CSF3R are enriched in patients with Chronic Neutrophilic Leukemia (CNL) or Atypical Chronic Myeloid Leukemia (16/27, 59%) when compared to other blood disorders (AML=1/29… (full text at CIViC)

PMID 23656643 · Maxson et al., 2013 · 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

Case report of a patient treated with ruxolitinib, an FDA-approved JAK1/2 inhibitor, which resulted in dramatic improvement of his blood counts. He also had significant reduction of spleen volume and … (full text at CIViC)

PMID 25180155 · Dao et al., 2014 · 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