Analysis of genetic and clinical characteristics of nine cases of myelodysplastic syndrome with near tetraploid/tetraploidy karyotype.
10.3760/cma.j.cn511374-20191015-00530
- Author:
Juan WU
1
;
Huijie LIN
;
Chengxuan CHEN
;
Yue LUO
;
Wei DAI
;
Xiaolan LIN
;
Wanzi CHEN
;
Qiang FU
;
Qin YUAN
;
Jiadi CHEN
Author Information
1. Department of Clinical Laboratory, School of Medical Technology and Engineering, Fujian Medical University, Fuzhou, Fujian 350004, China. csuchenjiadi@163.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Karyotype;
Leukemia, Myeloid, Acute/complications*;
Myelodysplastic Syndromes/pathology*;
Prognosis;
Retrospective Studies;
Tetraploidy
- From:
Chinese Journal of Medical Genetics
2020;37(12):1336-1339
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic and clinical characteristics of near-tetraploidy/tetraploidy karyotype (NT/T) in patients with myelodysplastic syndrome (MDS).
METHODS:Cytogenetic findings of 1576 inpatients with primary MDS were retrospective analyzed, among which 9 were diagnosed with NT/T. Clinical data including gender, age, morphology, genetic feature and prognosis were analyzed.
RESULTS:The prevalence of MDS patients with NT/T (NT/T-MDS) among all cases was 0.57%. Karyotyping analysis suggested that eight MDS patients had sole NT/T, while the remainder one had a complex karyotype. In addition to the typical morphology of MDS, NT/T-MDS had unique morphology including huge blast, double-nuclear cell and irregular nuclear membrane. One NT/T-MDS patient gave up therapy, and the remaining eight underwent the first course of treatment, albeit with poor prognosis. Only one patient had complete remission, one had partial remission, three had no remission; and three had converted to acute myeloid leukemia.
CONCLUSION:NT/T-MDS is rare and has unique morphology. Generally, NT/T-MDS patients have poor prognosis. However, NT/T cannot be simply classified as high-risk group, but with consideration whether they have affected particular chromosomal structures as well as other clinical data.
