Cytogenetic characteristics of 665 patients with myelodysplastic syndrome in China: A single‑center report

Abstract

The karyotype is highly important for diagnosis and prognosis in myelodysplastic syndrome (MDS). The objective of the present study was to investigate the cytogenetic characteristics of patients with MDS in China. The karyotypes of 665 Chinese patients with MDS were analyzed, and it was identified that 298 cases (298/665, 44.8%) had abnormal karyotypes. Among the 298 patients with abnormal karyotypes, the 75 patients with trisomy 8 (+8) constituted the most common subset (75/298, 25.2%). The incidence of abnormal karyotypes was significantly higher in patients who were ≥51 years old compared with those <51 years old, (54.8 vs. 34.7%, respectively; P<0.05). Based on World Health Organization (WHO) classification-based Prognostic Scoring System (WPSS) criteria, the incidence of poor-prognosis karyotypes was significantly higher (17.4 vs. 5.4%; P<0.05) in the older patient group, and based on the Revised International Prognostic Scoring System (IPSS-R) criteria, the incidence of poor-/very poor-prognosis karyotypes was also significantly higher (17.4 vs. 6.6%; P<0.05) in patients ≥51 years old compared with younger ones. Based on the WHO classification of MDS subtypes, the incidence of abnormal karyotypes in patients with high percentages of bone marrow (BM) blasts [excess blasts (EB)-I + EB-II, ≥5% blasts] was significantly higher than that in patients with low percentages of BM blasts (those with single lineage dysplasia + multilineage dysplasia, <5% blasts) (62.5 vs. 36.0%; P<0.05). The incidence of poor-prognosis karyotypes based on WPSS criteria was significantly higher in patients with high percentages of BM blasts than those with low percentages (22.0 vs. 6.9%, respectively; P<0.05), and the incidence of poor-/very poor-prognosis karyotypes based on IPSS-R criteria was also significantly higher (23.0 vs. 7.4%, respectively; P<0.05). These results demonstrate that +8 is the most common abnormal karyotype in Chinese patients with MDS. Age and the percentage of BM blasts are associated with the incidence of both abnormal karyotypes and karyotypes with poor prognosis. The results of cytogenetic abnormalities in this study will supplement the data on patients of MDS in China.

Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes

“…Our study cohort showed a high frequency (32.6%) of MDS-MLD subgroup (Supplementary Table S1 ) followed by MDS with excess blast (EB1 and EB2) (30.2%) among other MDS subgroups. Our results were similar with the study reported from the Pakistan (26.9%, 22%) 3 , 29 and China (57.6%, 63.6%) 21 , 22 . The studies 3 , 21 , 22 , 29 also reported that the MDS excess blast (EB1 and EB2) was the second most frequent subgroups (32.6%, 39%, 15.3%, and 30%).…”

“…Our results were similar with the study reported from the Pakistan (26.9%, 22%) 3 , 29 and China (57.6%, 63.6%) 21 , 22 . The studies 3 , 21 , 22 , 29 also reported that the MDS excess blast (EB1 and EB2) was the second most frequent subgroups (32.6%, 39%, 15.3%, and 30%). On the other hand reports from western countries (USA, Switzerland and Netherland) 24 reported MDS-U, more frequent (61%, 60.7% and 42.6%) MDS subgroup and the MDS-EB frequency is found to be less (16.3, 17.5%, 20.2% vs. 32.6%, 39%, 15.3%, 30%) compared with the Asian countries 3 , 21 , 22 , 29 .…”

“…MDS is usually an elderly disease and the incidence increases with advancing age. In our study the median age of MDS patients at diagnosis was 55 years with range from 16 to 90 years, which is similar with the reports from Asian countries; India (55 years) 16 , Pakistan (51 years) 3 and China (62, 51 years) 21 , 22 . On the other hand, median age at diagnosis in our study cohort is different from US (77 years) 23 , Europe (76 years) 24 and France (~ 78 years) 24 .…”

“…On the other hand, median age at diagnosis in our study cohort is different from US (77 years) 23 , Europe (76 years) 24 and France (~ 78 years) 24 . The younger patients (≥ 55 years), were predominant (55.9%) in our study, which is similar to China MDS populations (~ 52%) 22 , but different from USA (13.5%) 25 , Greece (28.1%) 26 and Poland (~ 12) 27 . As per Surveillance Epidemiology and End Results (SEER)-Medicare database, also reported that the median age in Asian countries is earlier than that of Western countries 24 .…”

“…The studies 3 , 21 , 22 , 29 also reported that the MDS excess blast (EB1 and EB2) was the second most frequent subgroups (32.6%, 39%, 15.3%, and 30%). On the other hand reports from western countries (USA, Switzerland and Netherland) 24 reported MDS-U, more frequent (61%, 60.7% and 42.6%) MDS subgroup and the MDS-EB frequency is found to be less (16.3, 17.5%, 20.2% vs. 32.6%, 39%, 15.3%, 30%) compared with the Asian countries 3 , 21 , 22 , 29 . The difference in frequency of MDS subgroups may be due to the different ethnicity, population of the study, and/or sensitivity of the methodology adopted for identification of MDS morphology.…”