[Application of karyotypic analysis in myelodysplastic syndrome]

To explore the applications of karyotypic analysis in the diagnosis and prognosis of myelodysplastic syndrome (MDS).

Chromosomal analysis was performed with short-term cell cultures and R-banding techniques in 129 MDS patients. And the technique of FISH was employed for clinical follow-ups in 28 MDS patients. Based on the result of abnormal karyotype, the patients were divided into three groups: low risk group , intermediate risk and high risk group. The leukemia transformation time and survival time between these three groups were compare.

Among them, 52 patients (40.3%) had numeral karyotypic abnormalities of chromosomes and structural alterations. Complex abnormal karyotype was the most common and accounted for 30.8% (16 cases). The frequencies of 20q(-) and +8 were 19.2% (10 cases) and 15.4% (8 cases)respectively. Six cases were positive by FISH, however, of whom, were negative for conventional cytogenetics. The follow-up data were available in 88 patients with a median follow up duration of 11(3, 60) months, 27 cases (30.7%) progressed to acute leukemia. The rate of leukemia transformation were 27.8% (15/54), 23.5% (4/17) and 47.1% (8/17) in the low, intermediate and high risk groups respectively. The median durations of leukemic transformation were > 60 (14, > 60), 48 (35, > 60) and 7 (6, 12) months in the low, intermediate and high-risk groups and the median survival times were 26(15, > 60), 21(14, 35) and 10(6, 13) months respectively. The median durations of leukemic transformation and median survival periods in the high-risk groups were shorter than those in the low and intermediate risk groups (all P < 0.05).

Karyotypic analysis has important values in the diagnosis and prognosis of MDS.