Article
The genetic basis of myelodysplasia and its clinical relevance.
Blood - 12 Dec 2013
Cazzola Mario, Della Porta Matteo G, Malcovati Luca
Abstract excerpt
Myelodysplasia is a diagnostic feature of myelodysplastic syndromes (MDSs) but is also found in other myeloid neoplasms. Its molecular basis has been recently elucidated by means of massive parallel sequencing studies. About 90% of MDS patients carry ≥1 oncogenic mutations, and two thirds of them are found in individuals with a normal karyotype. Driver mutant genes include those of RNA splicing (SF3B1, SRSF2,...
Topics
- Animals
- Chromatin
- Clinical Trials as Topic
- DNA Mutational Analysis
- Genome, Human
- Humans
- Leukemia, Myelogenous, Chronic, BCR-ABL Positive
- Mutation
- Myelodysplastic Syndromes
- Neoplasm Proteins
- RNA Splicing