| Literature DB >> 33552247 |
Xueying Wang1,2, Weiyi Liu2, Mingjing Wang2,3, Teng Fan2,3, Yumeng Li1,2, Xiaoqing Guo2, Xiupeng Yang2, Hongzhi Wang2, Haiyan Xiao2, Shanshan Zhang2, Richeng Quan2, Chi Liu2, Xudong Tang2, Yan Lv2, Zhuo Chen2, Liu Li2, Yonggang Xu2, Rou Ma2, Xiaomei Hu2.
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. Copyright: © Wang et al.Entities:
Keywords: WHO classification; chromosome karyotype; cytogenetics; myelodysplastic syndrome; prognostic scoring system
Year: 2020 PMID: 33552247 PMCID: PMC7798047 DOI: 10.3892/ol.2020.12387
Source DB: PubMed Journal: Oncol Lett ISSN: 1792-1074 Impact factor: 2.967
Cytogenetic data of patients with MDS according to the WHO (2016) classification.
| Numerical karyotype abnormalities, n (%) | ||||||||
|---|---|---|---|---|---|---|---|---|
| Classification | No. of patients | Normal, karyotypes n (%) | Single or double | Hypodiploid | Hyperdiploid | Structural abnormalities, single or double, n (%) | Mixed abnormalities[ | Complex abnormalities, n (%) |
| MDS (total) | 665 | 367 (55.2) | 96 (14.4) | 23 (3.4) | 5 (0.8) | 105 (15.8) | 14 (2.1) | 55 (8.3) |
| MLD | 423 | 270 (63.8) | 47 (11.1) | 17 (4.0) | 0 | 62 (14.7) | 8 (1.9) | 19 (4.5) |
| SLD | 24 | 16 (66.7) | 3 (12.5) | 1 (4.2) | 1 (4.2) | 2 (8.2) | 0 | 1 (4.2) |
| EB-I | 120 | 42 (35.0) | 27 (22.5) | 3 (2.5) | 2 (1.7) | 21 (17.5) | 3 (2.5) | 22 (18.3) |
| EB-II | 80 | 33 (41.3) | 14 (17.5) | 2 (2.5) | 2 (2.5) | 13 (16.2) | 3 (3.8) | 13 (16.2) |
| MDS-RS | 14 | 5 (35.7) | 4 (28.6) | 0 | 0 | 5 (35.7) | 0 | 0 |
| MDS-U | 2 | 1 (50.0) | 1 (50.0) | 0 | 0 | 0 | 0 | 0 |
| MDS del(5q) | 2 | 0 | 0 | 0 | 0 | 2 (100.0) | 0 | 0 |
Numerical and structural abnormalities. MDS, myelodysplastic syndrome; WHO, World Health Organization; MLD, multilineage dysplasia; SLD, single lineage dysplasia; EB-I, excess blasts-I; EB-II, excess blasts-II; MDS-RS, MDS with ring sideroblasts; MDS-U, MDS, unclassifiable; MDS del(5q), MDS with isolated del(5q).
Figure 1.Abnormal karyotypes in patients with myelodysplastic syndrome. (A) Percentages of different types of chromosomal abnormality. (B) Numbers of patients with various single chromosome abnormalities. Mixed abnormalities refers to numerical and structural abnormalities.
Figure 2.Incidence of chromosomal abnormalities based on prognostic scoring systems for myelodysplastic syndrome. Incidence based on (A) World Health Organization classification-based Prognostic Scoring System criteria and (B) Revised International Prognostic Scoring System criteria. KTs, karyotypes; INT, intermediate.
Figure 3.Incidence of chromosomal abnormalities in different age groups. (A) Incidence of abnormal KTs in different age groups. Incidence of (B) abnormal KTs, (C) poor-prognosis KTs according to WPSS criteria and (D) poor- and very poor-prognosis KTs according to IPSS-R criteria in patients divided into two groups according to median age. *P<0.05. KTs, karyotypes; WPSS, WHO classification-based Prognostic Scoring System; IPSS-R, Revised International Prognostic Scoring System.
Comparison of median age and PB blasts between normal and abnormal karyotype groups.
| Group | Age, years | PB blasts, % |
|---|---|---|
| Normal karyotype | 45.03±19.19 | 3.26±4.34 |
| Abnormal karyotypes | 53.54±17.94 | 3.99±4.59 |
| P-value | <0.001 | 0.395 |
Data are expressed as mean ± standard deviation. PB, peripheral blood.
Frequency of common chromosomal abnormalities among WHO subtypes of MDS.
| No. of frequent chromosomal abnormalities (%) | ||||||
|---|---|---|---|---|---|---|
| Subtypes | No. of patients | Abnormal | +8 | del(20q) | −7/del(7q) | del(5q) |
| MLD | 423 | 153 (36.2) | 39 (9.2) | 24 (5.7) | 15 (3.5) | 8 (1.9) |
| SLD | 24 | 8 (33.3) | 1 (4.2) | 1 (4.2) | 0 | 0 |
| EB-I | 120 | 78 (65.0) | 20 (16.7) | 6 (5.0) | 6 (5.0) | 5 (4.2) |
| EB-II | 80 | 47 (58.7) | 11 (13.8) | 3 (3.8) | 5 (6.3) | 5 (6.3) |
| MDS-RS | 14 | 9 (64.3) | 4 (28.6) | 3 (21.4) | 0 | 1 (7.1) |
| MDS-U | 2 | 1 (50.0) | 0 | 0 | 1 (50.0) | 0 |
| MDS del(5q) | 2 | 2 (100.0) | 0 | 1 (50.0) | 0 | 2 (100.0) |
MDS, myelodysplastic syndrome; WHO, World Health Organization; MLD, multilineage dysplasia; SLD, single lineage dysplasia; EB-I, excess blasts-I; EB-II, excess blasts-II; MDS-RS, MDS with ring sideroblasts; MDS-U, MDS, unclassifiable; MDS del(5q), MDS with isolated del(5q).
Figure 4.Incidence of chromosomal abnormalities across different WHO classification groups. (A) Comparison of different WHO subtypes of myelodysplastic syndrome. P<0.001 among all WHO subtypes (4 degrees of freedom). Pairwise comparisons of different WHO subtypes: MLD vs. SLD, P=0.778; MLD vs. EB-I, P<0.001; MLD vs. EB-II, P<0.001; MLD vs. MDS-RS, P=0.032; SLD vs. EB-I, P=0.004; SLD vs. EB-II, P=0.029; SLD vs. MDS-RS, P=0.094; EB-I vs. EB-II, P=0.371; EB-I vs. MDS-RS, P=1.000; EB-II vs. MDS-RS, P=0.697. After Bonferroni correction, the adjusted P<0.005 was used to indicate a statistically significant difference among the multiple pairwise comparisons of different WHO subtypes. *P<0.005 vs. MLD, ΔP<0.005 vs. SLD. (B) Incidence of (B) abnormal KTs, (C) poor-prognosis KTs according to WPSS criteria and (D) poor- and very poor-prognosis KTs according to IPSS-R criteria in patients divided into two groups according to the percentage of bone marrow blasts. *P<0.05. WHO, World Health Organization; MLD, multilineage dysplasia; SLD, single lineage dysplasia; EB-I, excess blasts-I; EB-II, excess blasts-II; MDS-RS, MDS with ring sideroblasts; KTs, karyotypes; WPSS, WHO classification-based Prognostic Scoring System; IPSS-R, Revised International Prognostic Scoring System.