Jiang Yan, Eveillard Jean-Richard, Couturier Marie-Anne, Soubise Benoit, Chen Jian-Min, Gao Sujun, Basinko Audrey, Morel Frédéric, Douet-Guilbert Nathalie, Troadec Marie-Bérengère
Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France.
Department of Hematology, The First Hospital of Jilin University, Changchun 130021, China.
Cancers (Basel). 2021 Jan 27;13(3):481. doi: 10.3390/cancers13030481.
This study explores the hypothesis that genetic differences related to an ethnic factor may underlie differences in phenotypic expression of myelodysplastic syndrome (MDS). First, to identify clear ethnic differences, we systematically compared the epidemiology, and the clinical, biological and genetic characteristics of MDS between Asian and Western countries over the last 20 years. Asian MDS cases show a 2- to 4-fold lower incidence and a 10-year younger age of onset compared to the Western cases. A higher proportion of Western MDS patients fall into the very low- and low-risk categories while the intermediate, high and very high-risk groups are more represented in Asian MDS patients according to the Revised International Prognostic Scoring System. Next, we investigated whether differences in prognostic risk scores could find their origin in differential cytogenetic profiles. We found that 5q deletion (del(5q)) aberrations and mutations in , and are more frequently reported in Western MDS patients while trisomy 8, del(20q), and mutations are more frequent in Asian MDS patients. Treatment approaches differ between Western and Asian countries owing to the above discrepancies, but the overall survival rate within each prognostic group is similar for Western and Asian MDS patients. Altogether, our study highlights greater risk MDS in Asians supported by their cytogenetic profile.
本研究探讨了一种假说,即与种族因素相关的基因差异可能是骨髓增生异常综合征(MDS)表型表达差异的基础。首先,为了明确种族差异,我们系统比较了过去20年亚洲和西方国家MDS的流行病学、临床、生物学和遗传学特征。与西方病例相比,亚洲MDS病例的发病率低2至4倍,发病年龄年轻10岁。根据修订后的国际预后评分系统,较高比例的西方MDS患者属于极低风险和低风险类别,而亚洲MDS患者中中等、高风险和极高风险组的比例更高。接下来,我们研究了预后风险评分的差异是否源于细胞遗传学图谱的差异。我们发现,5q缺失(del(5q))畸变以及 、 和 的突变在西方MDS患者中更常见,而三体8、del(20q)以及 和 的突变在亚洲MDS患者中更常见。由于上述差异,西方和亚洲国家的治疗方法有所不同,但西方和亚洲MDS患者在每个预后组中的总生存率相似。总之,我们的研究强调了亚洲人因细胞遗传学图谱而具有更高风险的MDS。