Leukemia

In 878 non-APL patients with AML, those who had mutations in RUNX1 (N=53) had higher rates of refractory disease than those without (30% versus 19%; P = 0.047).

PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC

In 878 non-APL patients with AML (18-60 years), those who had mutations in RUNX1 (N=53) had shorter event-free survival (8% vs 30%, P<0.0001) and relapse-free survival (26% vs 44%, P=0.022) relative t… (full text at CIViC)

PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC

In a study of patients with cytogenically normal acute myeloid leukemia, RUNX1 mutations were more frequent in patients 60 years old or older. Patients with RUNX1 mutations had shorter disease-free (y… (full text at CIViC)

PMID 22753902 · Mendler et al., 2012 · Open in CIViC

In univariate analysis, mutations in RUNX1 were significantly associated with shorter overall survival compared to wildtype RUNX1 in adult (18-87 years old) T-cell acute lymphoblastic leukemia (N=9 mu… (full text at CIViC)

PMID 23341344 · Grossmann et al., 2013 · Open in CIViC

In patients with acute myeloid leukemia, those with RUNX1 mutations (n=245) had significantly worse outcomes when compared to those with RUNX1 wild-type alleles (n=2,194). The complete remission rate… (full text at CIViC)

PMID 27137476 · Gaidzik et al., 2016 · Open in CIViC

In non-APL patients with AML (age 18-60), those who had mutations in RUNX1 had significantly shorter relapse-free survival following conventional post-remission treatment (repetitive cycles of high-do… (full text at CIViC)

PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC

A pedigree (Pedigree number 2) with familial platelet disorder and acute myeloid leukemia (FPD/AML) was studied and a one-base deletion was found in RUNX1 splice donor site. This resulted in use of a … (full text at CIViC)

PMID 11830488 · Michaud et al., 2002 · Open in CIViC

A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (E) of 2 generations with 5 individuals was evaluated by sequencing as more than 1 first degree relative had MD… (full text at CIViC)

PMID 18723428 · Owen et al., 2008 · Open in CIViC

In the current update of The WHO classification for myeloid malignancies, AML with t(8;21)(q22;q22.1); RUNX1-RUNX1T1, defines a distinct subgroup of AML with recurrent genetic abnormalities. RUNX1-RUN… (full text at CIViC)

PMID 27895058 · Döhner et al., 2017 · 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

A 2 year old male presented with easy bruising and bleeding. At 6 years old he was diagnosed with AML. The patients mother showed mile thrombocytopenia. Sequencing of RUNX1 exons 3-6 revealed an 8 bp … (full text at CIViC)

PMID 18478040 · Béri-Dexheimer et al., 2008 · Open in CIViC

A pedigree (Pedigree number 3) with 24 members with multiple instances of bleeding disorder and three cases of familial leukemia showed a C>A substitution in exon 7B of the transcription factor RUNX1.… (full text at CIViC)

PMID 11830488 · Michaud et al., 2002 · 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

Atypical Chronic Myeloid Leukemia has the same symptoms as CML, but it lacks the BCR-ABL1 fusion. The researchers transfected 293T cells with SETBP1 G870S, a variant found to be associated with poor p… (full text at CIViC)

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

The cancer-associated SF3B1-K700E mutation compromises homologous recombination repair and increases the sensitivity to ionising radiation and DNA damaging agents, such as etoposide or small molecule … (full text at CIViC)

PMID 35027467 · Lappin et al., 2022 · 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

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

The STAG2 p.His421Thrfs*4 mutation is a truncating frameshift variant located in exon 14 of the STAG2 gene, a core component of the cohesin complex. Truncating mutations in STAG2 are recurrent across … (full text at CIViC)

PMID 22135298 · Hornbeck et al., 2012 · Open in CIViC

Sequencing of 93 secondary acute myeloid leukemias (AML) compared to 180 TCGA de novo AMLs identified STAG2 mutations had >95% sensitivity for being diagnostic of secondary AML, identifying a patient … (full text at CIViC)

PMID 25550361 · Lindsley et al., 2015 · Open in CIViC

In a retrospective cohort study of 389 uniformly treated acute myeloid leukemia (AML) patients, 23 patients harbored mutations in genes of the cohesin complex including 5 who harbored mutations in STA… (full text at CIViC)

PMID 24335498 · Thol et al., 2014 · 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

A case report of a 74 year old female who was diagnosed with MPAL, B/myeloid with bone marrow blasts were positive for myeloperoxidase, CD19, and CD22. Chromosome analysis showed 46,XX,+1,der(1;18)(q1… (full text at CIViC)

PMID 27607436 · Yamamoto et al., 2016 · Open in CIViC

In an in vitro kinase study, the recombinant TEK R849W mutant kinase demonstrated resistance to bosutinib treatment at concentrations of 1μM and 10μM (activity %: 77 and 35) when compared to wild type… (full text at CIViC)

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

In a cohort of 783 young adult patients with acute myeloid leukemia, those with TET2 mutations did not have significantly different rates of complete recovery, refractory disease, or hypoplastic death… (full text at CIViC)

PMID 22430270 · Gaidzik et al., 2012 · Open in CIViC

In patients with cytogenetically normal acute myeloid leukemia, those in the intermediate-I risk group with TET2 mutations had higher rates of complete remission.

PMID 22430270 · Gaidzik et al., 2012 · Open in CIViC

TLX3, also known as HOX11L2 is a homeobox gene, located on the long arm of chromosome 5. TLX3 is not expressed in normal T-cell development. In this paper, the authors described a "new" cryptic transl… (full text at CIViC)

PMID 11587205 · Bernard et al., 2001 · Open in CIViC

This retrospective study of COG ALL cases from a 5 year period identified 10 of 40 T-ALL cases with an ABL1 rearrangement. One 3 year old patient had a novel complex rearrangement between TNRC6B and A… (full text at CIViC)

PMID 30803551 · Papenhausen et al., 2019 · Open in CIViC

In an in vitro study, leukemia cells expressing TOP2A/90 show increased inhibition (p < 0.025) upon KD of TOP2A/90 when treated with etoposide. Moreover cells expressing TOP2A/170 but not TOP2A/90 sho… (full text at CIViC)

PMID 29514855 · Kanagasabai et al., 2018 · Open in CIViC

In an in vitro study, leukemia cells expressing TOP2A/90 show increased IC50 compared to leukemia cells underexpressing TOP2A/90 when treated with etoposide, daunorubicin, mAMSA, mitoxantrone and pixa… (full text at CIViC)

PMID 33446509 · Hernandez et al., 2021 · Open in CIViC

Phase I Trial of MDM2 inhibitor RG7112 in 116 patients with AML, ALL, CML, CLL, sCLL demonstrated sustained clinical improvement and induction of TP53 target genes in subset of patients with wild type… (full text at CIViC)

PMID 26459177 · Andreeff et al., 2016 · 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