Objective: To investigate the relationship of cytogenetic features, clinical characteristics and prognosis in patients with myelodysplastic syndrome.

Methods: The clinical characteristics and prognosis of 236 patients with MDS admitted to the Affiliated Hospital of Xuzhou Medical University from January 2013 to September 2017 were analyzed retrospectively, the follow-up observation and correlation analysis were performed.

Results: There were 33 cases of refractory cytopenia with unilateral dysplasia (RCUD), 8 cases of refractory anemia with ring-shaped iron granulocytes (RARS), 70 cases of refractory cytopenia with multiple dysplasia (RCMD), 23 cases of refractory anemia (RA), 46 cases of refractory anemia with excessive blasts (RAEB-1), 48 cases of (RAEB-2), MDS-U 2 cases, simple del(5q) 6 cases. The detection analysis showed that the chromosome abnormality rate and complex chromosome abnormality rate in RAEB group (RAEB-1 + RAEB-2) and in non-RAEB group (RARS+RCMD+RCUD+RA) were 48.94% vs 43.94%, and 18.09% vs 12.69%, respectively, which were no statistically different. The grouping according to IPSS-R and IPSS showed that the chromosome abnormality rate gradually increased along with enhancement of risk stratifi-cation (P<0.05). The cytogenetic characteristics analysis showed that a total of 108 cases had chromosomal abnormalities, the detection rate was 45.76%, Out of 108 cases, 36 cases had complicated karyotypes, accounted for 15.25% of all patients. The types of chromosomal abnormalities mainly include numbers, structural abnormalities and mixed abnormalities. The chromosome abnormality with the highest detection rate was +8, accounted for 30.56% (33/100) of patients with chromosome abnormalities; followed by -7/7q-, del(5q), del(20q), etc. -7/7q-chromosome abnormalities accounted for 29.63% of all karyotypic abnormalities (including -7/7q-chromosome abnormalities alone and other chromosome abnormalities). The median age of the patients with MDS was 61 (13-88) years old, and the male-female ratio was 1.36∶1. Analysis of blood cell characteristics showed that the three lines were reduced or increased to varying degrees. The median WBC count was 2.8 (0.3-267.1)×10/L, the median Hb level was 69 (20-156) g/L, and the median Plt count was 55 (2-1733)×10/L. The 1 year OS rate in 32 cases of chromosome 7 abnormality and 128 cases of normal chromosome was 25% and 44.53%, respectively, the difference was statistically significant (χ=4.05, P<0.05) .

Conclusion: Chromosome karyotype is an independent factor affecting the prognosis of patients with MDS. It is important for the diagnosis, treatment and prognosis evalnation of patients with MDS. The overall prognosis of patients with abnormal chromosome 7 is poor. .

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http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2019.04.032DOI Listing

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