Myelodysplastic syndromes (MDS) and myeloproliferative disorders are associated with deregulated production of myeloid cells. According to WHO classification (2017), recurrent 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).
Loss of chromosome 7 (-7) or deletion of the long arm (7q-) are recurrent chromosome abnormalities in myeloid leukemias such as MDS or acute myeloid leukemia (AML). The association of -7/7q with myeloid leukemia suggests that certain regions contain tumor suppressor gene(s), whose loss of function contribute to leukemic transformation or tumor progression. Multiple critical regions have been identified: one in band 7q22 (including the KMT2E gene), the more telomeric region 7q31 and 7q35-q36 (including the EZH2 gene).
Clinical Applications
- Myelodysplastic Syndrome (MDS)
- Acute Myelogenous Leukemia (AML)