The genetic basis of myelodysplasia and its clinical relevance
Identifieur interne : 005E45 ( Ncbi/Checkpoint ); précédent : 005E44; suivant : 005E46The genetic basis of myelodysplasia and its clinical relevance
Auteurs : Mario Cazzola [Italie] ; Matteo G. Della Porta [Italie] ; Luca Malcovati [Italie]Source :
- Blood [ 0006-4971 ] ; 2013.
Abstract
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 (
Url:
DOI: 10.1182/blood-2013-09-381665
PubMed: 24136165
PubMed Central: 3862275
Affiliations:
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PMC:3862275Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>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 (<italic>SF3B1</italic>
, <italic>SRSF2</italic>
, <italic>U2AF1,</italic>
and <italic>ZRSR2</italic>
), DNA methylation (<italic>TET2</italic>
, <italic>DNMT3A</italic>
, and <italic>IDH1</italic>
/<italic>2</italic>
), chromatin modification (<italic>ASXL1</italic>
and <italic>EZH2</italic>
), transcription regulation (<italic>RUNX1</italic>
), DNA repair (<italic>TP53</italic>
), signal transduction (<italic>CBL, NRAS</italic>
, and <italic>KRAS</italic>
), and cohesin complex (<italic>STAG2</italic>
). Only 4 to 6 genes are consistently mutated in ≥10% MDS patients, whereas a long tail of ∼50 genes are mutated less frequently. At presentation, most patients typically have 2 or 3 driver oncogenic mutations and hundreds of background mutations. MDS driver genes are also frequently mutated in other myeloid neoplasms. Reliable genotype/phenotype relationships include the association of the <italic>SF3B1</italic>
mutation with refractory anemia with ring sideroblasts, <italic>TET2</italic>
/<italic>SRSF2</italic>
comutation with chronic myelomonocytic leukemia, and activating <italic>CSF3R</italic>
mutation with chronic neutrophilic leukemia. Although both founding and subclonal driver mutations have been shown to have prognostic significance, prospective clinical trials that include the molecular characterization of the patient’s genome are now needed.</p>
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