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).
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 containing RPS14 has been identified as a causal region for 5q syndrome.
Clinical Applications
- Myelodysplastic Syndrome (MDS)
- Acute Myelogenous Leukemia (AML)