Chronic Leukemia

As a follow-up to a previous study (23300174), a hairy cell leukemia patient harboring BRAF V600E mutation was associated with response to vemurafenib monotherapy. The patient was previously treated w… (full text at CIViC)

PMID 25815361 · Bailleux et al., 2015 · Open in CIViC

A hairy cell leukemia patient with extensive CNS involvement patient harboring BRAF V600E mutation was associated with complete response to vemurafenib monotherapy. Upon identification of the BRAF V60… (full text at CIViC)

PMID 27116997 · McDowell et al., 2016 · 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

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 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

In a retrospective study of 5,290 chronic lymphocytic leukemia (CLL) patients where chromosome-banding analysis (CBA) data was available, karyotype complexity was assessed for clinical impact. Karyoty… (full text at CIViC)

PMID 30602617 · Baliakas et al., 2019 · 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

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

Demonstrates that activating mutations in CSF3R are sufficient to drive a myeloproliferative disorder resembling aCML and CNL that is sensitive to pharmacologic JAK inhibition.

PMID 24081659 · Fleischman et al., 2013 · Open in CIViC

In a retrospective study of 144 patients with B-cell chronic lymphocytic leukemia, the median progression-free survival was significantly different between GNAS T393C genotypes (TT 130 months; TC 100 … (full text at CIViC)

PMID 17020971 · Frey et al., 2006 · Open in CIViC

In 5 patients with KIT M541L mutation-positive chronic eosinophilic leukemia (4 somatic and 1 germline mutation), treatment with low dose imatinib resulted in complete and lasting remission with a med… (full text at CIViC)

PMID 25015329 · Iurlo et al., 2014 · Open in CIViC

One patient enrolled in a clinical study to evaluate vemurafenib treatment of BRAF V600E mutant hairy-cell leukemia developed resistance to vemurafenib retreatment. 300-gene targeted sequencing of the… (full text at CIViC)

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

Plays a causative role in leukemogenesis. RAS existed in a GTP-bound state in greater abundance than wild type, leading to increased phosphorylation of ERK (Fig. 2) Identified as oncogenic alleles in … (full text at CIViC)

PMID 19075190 · Tyner et al., 2009 · Open in CIViC

MYD88 mutations were identified in 24 of 1080 screened CLLs. They were exclusively seen in instances of mutated IGHV genes (18/23, P = 0.0001), a widely recognized prognostic signature for better out… (full text at CIViC)

PMID 24943832 · Baliakas et al., 2015 · Open in CIViC

This study describes a novel MYO18A::FLT3 fusion in a 47-year-old male with mixed myelodysplastic/myeloproliferative features. He presented with leukocytosis, splenomegaly, and atypical chronic myeloi… (full text at CIViC)

PMID 30559310 · Zhang et al., 2018 · Open in CIViC

In a study of 406 previously untreated CLL cases, a multivariate analysis indicated clonal NOTCH1 mutations (N=55) were significantly associated with reduced overall survival (HR: 1.5; 95%CI: 1.13-1.9… (full text at CIViC)

PMID 26837699 · Nadeu et al., 2016 · Open in CIViC

In a multivariate analysis of 774 CLL patients, NOTCH1 mutations were not significantly correlated with shorter time to first treatment (HR=1.305; 95% CI=0.923-1.847).

PMID 24943832 · Baliakas et al., 2015 · Open in CIViC

NOTCH1 mutations were found to be associated with worse overall survival (3.77-fold increase in the hazard of death, P < .001) in a series of 309 newly diagnosed CLL and confirmed in an additional set… (full text at CIViC)

PMID 22077063 · Rossi et al., 2012 · Open in CIViC

In a cohort of 120 patients with chronic lymphoytic leukemia, those with P2515 frameshift deletions in NOTCH1 at diagnosis had worse overall and treatment free survival. NOTCH1 mutations were also fou… (full text at CIViC)

PMID 21670202 · Fabbri et al., 2011 · Open in CIViC

This variant was found in one case of atypical CML out of 185 hematological malignancies. The authors propose that NTRK2 R458G, residing in the juxtamembrane domain, activates TrkB via noncanonical me… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · Open in CIViC

This variant was found in one case of atypical CML out of 185 hematological malignancies. The authors propose that NTRK2 R458G, residing in the juxtamembrane domain, activates TrkB via noncanonical me… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · 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

Whole exome sequencing was performed on baseline and relapse samples from six patients with CLL. One relapse sample had mutations in BTK and PLCG2, and a second relapse sample only had a mutation in … (full text at CIViC)

PMID 24869598 · Woyach et al., 2014 · 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

In previously untreated patients with chronic lymphocytic leukemia, POT1 mutations (N=13) were associated with shorter overall survival than wildtype POT1 (N=148) in univariate and multivariate analys… (full text at CIViC)

PMID 27226433 · Herling et al., 2016 · Open in CIViC

Atypical Chronic Myeloid Leukemia has the same symptoms as CML, but it lacks the BCR-ABL1 fusion. Targeted sequencing of 70 aCML patients identified SETBP1 mutations between codons 858 and 871 in 24.3… (full text at CIViC)

PMID 23222956 · Piazza et al., 2013 · Open in CIViC

In a study of 406 previously untreated CLL cases, a multivariate analysis indicated SF3B1 mutations (N=51) were significantly associated with reduced time to first treatment (HR: 1.73; 95%CI: 1.05-2.8… (full text at CIViC)

PMID 26837699 · Nadeu et al., 2016 · Open in CIViC

In a multivariate analysis of 774 CLL patients, SF3B1 mutations were significantly correlated with shorter time to first treatment (HR=1.644; 95% CI=1.134-2.383). This finding was independent of IGHV … (full text at CIViC)

PMID 24943832 · Baliakas et al., 2015 · Open in CIViC

This study describes a 32-year-old female with atypical chronic myeloid leukemia (aCML) and a complex translocation [(t(2;13;2;21)(p13;q12;q33;q11.2)] resulting in a novel in frame SPTBN1::FLT3 fusion… (full text at CIViC)

PMID 17764812 · Grand et al., 2007 · Open in CIViC

Mutations in the Src homology 2 (SH2) domain (exon 21) of STAT3 were found in 31 of 77 patients (40%) with large granular lymphocytic leukemia. Recurrent mutational hot spots included Y640F, D661V, D6… (full text at CIViC)

PMID 22591296 · Koskela et al., 2012 · Open in CIViC

Meta-analysis of 275 T-cell prolymphocytic leukemia (T-PLL) patients from 10 different studies. Sequencing data from each study (Sanger sequencing, targeted amplicon sequencing, whole exome sequencing… (full text at CIViC)

PMID 31766351 · Wahnschaffe et al., 2019 · Open in CIViC

In a cohort of 406 patients with CLL, those patients with clonal or sub-clonal mutations in TP53 had significantly shorter overall survival (HR: 1.71; 95% CI: 1.28-2.26; P = .0001).

PMID 26837699 · Nadeu et al., 2016 · Open in CIViC

The authors analyzed 328 patients with CLL, of which 28 were identified to have TP53 mutations. Patients with TP53 mutations were found to have significantly shorter progression-free (HR = 3.8; P < 0.… (full text at CIViC)

PMID 20697090 · Zenz et al., 2010 · Open in CIViC

The 2016 World Health Organization guidelines for the classification of myeloid malignancies uses the detection of PCM1-JAK2 or rearrangements involving PDGFRA, PDGFRB, or FGFR1 as recommended exclusi… (full text at CIViC)

PMID 27069254 · Arber et al., 2016 · Open in CIViC

The 2016 World Health Organization guidelines for the classification of myeloid malignancies uses the detection of PCM1-JAK2 or rearrangements involving PDGFRA, PDGFRB, or FGFR1 as recommended exclusi… (full text at CIViC)

PMID 27069254 · Arber et al., 2016 · Open in CIViC

The 2016 World Health Organization guidelines for the classification of myeloid malignancies uses the detection of PCM1-JAK2 or rearrangements involving PDGFRA, PDGFRB, or FGFR1 as recommended exclusi… (full text at CIViC)

PMID 27069254 · Arber et al., 2016 · Open in CIViC

A 60-year-old presented with bloating and shortness of breath. Records showed leukocytosis (white blood cell count of 12 × 109/L) with enlarged spleen. WBC was 16.43 × 10^9/L. abdominal ultrasound sho… (full text at CIViC)

PMID 36694063 · Liu et al., 2023 · Open in CIViC