Myelodysplastic syndromes: Contemporary review and how we treat.
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.
Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults.
Philadelphia, United States. In Leuk Lymphoma, Jan 2016
Here, we provide a practical algorithm for approaching a patient with a suspected MDS/AML predisposition, and provide an in-depth review of the established and emerging familial MDS/AML syndromes caused by mutations in the ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes.
Do somatic mutations in de novo MDS predict for response to treatment?
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.
Prognostification of ALL by Cytogenetics.
Srīnagar, India. In Indian J Hematol Blood Transfus, Sep 2015
Some chromosomal abnormalities are associated with more favorable outcomes, such as high hyperdiploidy (51-65 chromosomes) and the ETV6-RUNX1 fusion.
Molecular signature of salivary gland tumors: potential use as diagnostic and prognostic marker.
Piracicaba, Brazil. In J Oral Pathol Med, Jun 2015
Finally, the identification of ETV6-NTRK3 in cases previously diagnosed as uncommon acinic cell carcinomas, cystadenocarcinomas, and adenocarcinomas not otherwise specified led to the characterization of a completely new and now widely accepted entity, including, therefore, mammary analogue secretory carcinoma in the list of well-recognized salivary gland carcinomas.
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
Seattle, United States. In Nat Genet, Feb 2015
We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms.
Control of endothelial sprouting by a Tel-CtBP complex.
Leiden, Netherlands. In Nat Cell Biol, 2010
the transcriptional repressor Tel plays an evolutionarily conserved role in angiogenesis: it is indispensable for the sprouting of human endothelial cells and for normal development of the Danio rerio blood circulatory system