A case of myelodysplastic syndrome with aberrant evolution of chromosome 1 and 11 in 6 years of follow-up / 中国实验血液学杂志

ABSTRACT

This study was aimed to investigate the relationship between cytogenetic evolution and disease progression in patient with MDS-RAEB. By a long term (6 years) follow-up of a patient with MDS-RAEB, peripheral blood cell count, bone marrow cell morphology and conventional cytogenetics were monitored regularly. In addition, fluorescence in situ hybridization (FISH) was applied to confirm the aberrant karyotype. The results indicated that this patient was failed with conventional chemotherapy of AML, but had response to ATRA and 6-MP in the 72 months follow-up. At initial diagnosis, the cytogenetics analysis showed normal karyotype, whereas 46, XY, 2q+[1]/46, XY[19] was found at 48 months, 46, XY, dup(1q)[3]/46, XY[7] at 56 months, and dup (1) as well as der (11) with complex karyotype at 68 months, which was accompanied by progressive decrease of platelet count. It is concluded that karyotype evolution is perhaps associated with progression of MDS.