Myelodysplastic syndromes (MDS) and myeloproliferative disorders are associated with deregulated production of myeloid cells. According to WHO classification (2008), cytogenetic aberrations are observed in about 50% of MDS cases. The most common aberrations are 5q-, 7/7q-, trisomy 8, del(20q), and inv(3) or t(3;3).
The 5q syndrome is defined as a primary MDS with del(5q) as the sole karyotypic abnormality. Two different critical regions are described; one is located at 5q31 and contains the EGR1 and CDC25C genes; a more distal region at 5q32-q33 contains RPS14 which has been identified as a causal gene for the 5q syndrome.
Clinical Applications
- Myelodysplastic Syndrome (MDS)
- Acute Myelogenous Leukemia (AML)