Myeloid Neoplasm

In a pedigree with familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) spanning three generations, five members of generation II were sequenced at exons 3, 4 and 5 of th… (full text at CIViC)

PMID 11675361 · Buijs et al., 2001 · Open in CIViC

A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (C) of 3 generations with 7 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

A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (A) of 2 generations with 6 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

A pedigree of 48 individuals with multiple instances of bleeding and platelet disorders and 8 cases of leukemia showed an A>G substitution in RUNX1 exon 3 which segregated with Familial Platelet Disor… (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 (D) of 2 generations with 7 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 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

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

Five of the 11 somatic mutations were non–RAS pathway mutations, involving SETBP1 (3 p.Asp868Asn alterations), JAK3 (1 p.Arg657Gln alteration) and SH3BP1 (1 p.Ser277Leu alteration), which had not been… (full text at CIViC)

PMID 23832011 · Sakaguchi et al., 2013 · 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

Patients with SF3B1 mutations had a statistically significant longer overall survival as well as event free-survival. Both before and after adjustment for age, karyotype and sex.

PMID 21995386 · Papaemmanuil et al., 2011 · Open in CIViC

There was a significant association of SF3B1 mutations with the presence of ring sideroblasts (P < .001) and of mutant allele burden with their proportion (P = .002). The mutant gene had a positive pr… (full text at CIViC)

PMID 21998214 · Malcovati et al., 2011 · 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

Several splicing factors known to drive myeloid neoplasms (including SRSF2) require phosphorylation by CLK family kinases for nuclear translocation. The authors describe development of an inhibiter of… (full text at CIViC)

Open in CIViC

The SRSF2 P95L mutation, located in the RNA recognition motif domain, is a statistically significant hotspot in myeloid malignancies. In vitro studies using HeLa and K562 cells show that P95L disrupts… (full text at CIViC)

PMID 26124281 · Komeno et al., 2015 · Open in CIViC

Several splicing factors known to drive myeloid neoplasms (including SRSF2) require phosphorylation by CLK family kinases for nuclear translocation. The authors describe development of an inhibiter o… (full text at CIViC)

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

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 myelodysplastic syndromes, those with TET2 mutations have been shown to have better overall survival than patients without TET2 mutations.

PMID 19666869 · Kosmider et al., 2009 · Open in CIViC

A patient harbouring a novel TNKS2–PDGFRA fusion in a myeloid neoplasm with eosinophilia demonstrated a dramatic and durable response upon treatment with Imatinib mono therapy.

PMID 25658984 · Chalmers et al., 2015 · Open in CIViC

In patients with myelodysplastic syndrome, in a multivariate analysis those with mutations in TP53 had shorter overall survival than wild-type patients.

PMID 24836762 · Bally et al., 2014 · Open in CIViC

In patients with myeloma, those with mutations in TP53 had worse overall survival than those without.

PMID 17215851 · Chng et al., 2007 · Open in CIViC

In a large study of patients with primary myelofibrosis evaluating mutations associated with anemia, 457 patients were evaluated for U2AF1 mutations. U2AF1 mutations were significantly associated with… (full text at CIViC)

PMID 27058230 · Barraco et al., 2016 · Open in CIViC