Acute Leukemia

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

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

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 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 a study of 97 patients with AML treated with HSCT, 40 had TP53 mutations comprising a total of 44 mutations. Patients with a TP53 mutation had a reduced three year probability of overall survival … (full text at CIViC)

PMID 26771088 · Middeke et al., 2016 · Open in CIViC

Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF Q157P/R mutations and those who harbor wild type U2AF.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

In patients with AML, those who harbor Q157P/R mutation of U2AF1 do not show a statistically significant difference in complete remission rate compared to those who harbor wild type U2AF1.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF S34Y/F mutations and those who harbor wild type U2AF.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

In patients with AML, complete remission rates are not different between patients who harbor the U2AF1 S34Y/F mutation and those with wild type U2AF1.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

UBTF tandem duplications frequently found in patients with relapsed AML.

PMID 35176137 · Umeda et al., 2022 · Open in CIViC

In a preclinical trial, the AML cell line KG1 with the FGFR1OP2-FGFR1 fusion mutation was treated with the tyrosine kinase inhibitors (TKI) ponatinib, sorafenib, and sunitinib. Ponatinib was much more… (full text at CIViC)

PMID 21482694 · Gozgit et al., 2011 · Open in CIViC

In a preclinical trial, KG1 AML cell lines with the FGFR1OP2-FGFR1 fusion mutation were treated with the tyrosine kinase inhibitors (TKI) ponatinib, sorafenib, and sunitinib. Ponatinib was much more e… (full text at CIViC)

PMID 21482694 · Gozgit et al., 2011 · Open in CIViC

Through a preclinical trial WEE1 expression evaluated in acute lymphoblastic leukemia cell lines (ALL) shows exceptionally high expression in samples (n=58, 44 diagnosis samples and 14 unpaired relaps… (full text at CIViC)

PMID 30068368 · Ghelli Luserna Di Rorà et al., 2018 · Open in CIViC

Rates of complete remission and refractory disease are not different in patients with WT1 mutations (69% exon 7, 15% exon 9) than those without in young (16-60) patients with cytogenetically normal AM… (full text at CIViC)

PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC

No differences in relapse-free or overall survival were identified between young (16-60) patients with or without WT1 mutations (69% exon 7, 15% exon 9) in cytogenetically normal AML.

PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC

Rates of complete remission and refractory disease are not different in patients with WT1 mutations (69% exon 7, 15% exon 9) than those without in young (16-60) patients with cytogenetically normal AM… (full text at CIViC)

PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC

WT1 mutations were associated with shorter overall and disease free survival in a cohort of cytogenetically normal, young (<60) AML patients.

PMID 18559874 · Paschka et al., 2008 · Open in CIViC

WT1 mutations (documented across the protein) appear more frequently and impact new sites in childhood AML as compared to adult AML. The co-occurrence of a FLT3-ITD with WT1 mutations (and/or NUP98-NS… (full text at CIViC)

PMID 29227476 · Bolouri et al., 2018 · Open in CIViC

A 16.6-year-old Taiwanese male (Case #299) with B-ALL harbored a ZC3HAV1(exon 12)::ABL2(exon 2) fusion and concurrent deletions of CDKN2A/2B, PAX5 (exons 2–5), and IKZF1 (exons 2–8). The fusion was de… (full text at CIViC)

PMID 33707599 · Hsu et al., 2021 · Open in CIViC

A 38-year-old male with Ph-negative B ALL was found to harbor a ZC3HAV1 ABL2 rearrangement identified by massively parallel DNA sequencing (MPDS), consistent with a Philadelphia-like genotype. The leu… (full text at CIViC)

PMID 28430957 · Chen et al., 2016 · Open in CIViC

ZRSR2 is part of the spliceosome. Mutation in SRSF2, SF3B1, U2AF1, ZRSR2, ASXL1, EZH2, BCOR, or STAG2 was >95% specific for the diagnosis of secondary-AML

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