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).
A minimally deleted region on chromosome 4q24 is described in subgroups of patients with myelodysplastic syndromes and acute myeloid leukemia (AML). The region encompasses the TET2 gene. The frequency of TET2 mutations in unselected patients was 19% (15 of 81 patients) with myelodysplastic syndromes, 12% (24 of 198 patients) with myeloproliferative disorders, 24% (5 of 21 patients) with secondary AML, and 22% (2 of 9 patients) with chronic myelomonocytic leukemia.
Clinical Applications
- Myelodysplastic Syndrome (MDS)
- Acute Myelogenous Leukemia (AML)
- Chronic Myelogenous Leukemia (CML)