Papers on
ASXL1
Mutations in epigenetic modifiers in acute myeloid leukemia and their clinical utility.Tien et al., Taipei, Taiwan. In Expert Rev Hematol, Feb 2016
Somatic mutations in epigenetic modifiers, including IDH1, IDH2, TET2, DNAMT3A, ASXL1, MLL and EZH2 are enriched in patients with acute myeloid leukemia (AML), especially those with intermediate-risk cytogenetics.
Myelodysplastic syndromes: Contemporary review and how we treat.Tefferi et al., Rochester, United States. In Am J Hematol, Jan 2016
With the advent of next generation sequencing, recurrent somatic mutations in genes involved in epigenetic regulation (TET2, ASXL1, EZH2, DNMT3A, IDH1/2), RNA splicing (SF3B1, SRSF2, U2AF1, ZRSR2), DNA damage response (TP53), transcriptional regulation (RUNX1, BCOR, ETV6) and signal transduction (CBL, NRAS, JAK2) have been identified in MDS.
Do somatic mutations in de novo MDS predict for response to treatment?DeZern et al., Saint Louis, United States. In Hematology Am Soc Hematol Educ Program, Jan 2016
No abnormalities in other epigenetic regulators (DNMT3A, ASXL1), RNA splicing (SF3B1, SRSF2, URAF1, ZRSR2), transcription factors (RUNX1 or ETV6), or signaling (CBL, NRAS, KIT, JAK2, MPL) were detected.
What's different about atypical CML and chronic neutrophilic leukemia?Tyner et al., Portland, United States. In Hematology Am Soc Hematol Educ Program, Jan 2016
These studies have revealed aCML to be a genetically more heterogeneous disease than CNL, however, several groups have reported that SETBP1 and ASXL1 mutations occur at a high frequency and carry prognostic value in both diseases.
Myeloproliferative neoplasms: Current molecular biology and genetics.Saeidi, Kermān, Iran. In Crit Rev Oncol Hematol, Dec 2015
Some other genes' location such as TET oncogene family member 2 (TET2), additional sex combs-like 1 (ASXL1), casitas B-lineage lymphoma proto-oncogene (CBL), isocitrate dehydrogenase 1/2 (IDH1/IDH2), IKAROS family zinc finger 1 (IKZF1), DNA methyltransferase 3A (DNMT3A), suppressor of cytokine signaling (SOCS), enhancer of zeste homolog 2 (EZH2), tumor protein p53 (TP53), runt-related transcription factor 1 (RUNX1) and high mobility group AT-hook 2 (HMGA2) have also identified to be involved in MPNs phenotypes.
A Pilot Study of the Telomerase Inhibitor Imetelstat for Myelofibrosis.Pardanani et al., Rochester, United States. In N Engl J Med, Oct 2015
Response rates were 27% among patients with a JAK2 mutation versus 0% among those without a JAK2 mutation (P=0.30) and 32% among patients without an ASXL1 mutation versus 0% among those with an ASXL1 mutation (P=0.07).
Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms.Murati et al., Marseille, France. In Genes Chromosomes Cancer, 2012
We found a high incidence of ASXL1 mutation in myelofibrosis patients (20%) and a low incidence in polycythemia vera (7%) and essential thrombocythemia (4%) patients.