Table 2.
Summary of the generic causes of MDS discussed in this review.
| Summary of the Genetic Causes of MDS | |
|---|---|
| Somatic Mutations | |
| Epigenetic Regulators | TET2, DNMT3A, ASXL1, EZH2 genes |
| RNA Spliceosome | SF3B1, SRSF2, U2AF1 genes |
| DNA Transcription | RUNX1, TP53 genes |
| Signal Transduction Pathways | KRAS, NRAS, JAK2 genes |
| Cohesion complex | SMC3, SMC1A, RAD21, STAG2 genes |
| Germline Mutations | |
| CEBPA, DDX41, ETV6, GATA2, RUNX1 genes | |
| Inherited Disorders | |
| Fanconi Anemia | FANC genes |
| Shwachman-Diamond Syndrome | SBDS genes |
| Li-Fraumeni Syndrome | TP53 gene |
| Diamond-Blackfan Amemia | GATA1/RPS19 genes |
| Dyskeratosis congenita | Telomerase complex disorder |
| Chromosomal Abnormalities | |
| Chromosomal Deletion | del(5q), del(7q), del(20q), del(17q) |
| Mosaicism syndromes | Trisomy 8 |