Related Experiment Video
Updated: Jul 8, 2026
Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
Myelodysplastic Syndrome With Autoimmune Disease: Clinical and Molecular Features and Survival Outcomes
Yunsuk Choi1, Eun-Ji Choi1, Hyunkyung Park1
1Department of Hematology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Background:
The myelodysplastic syndromes (MDS) frequently present with heterogeneous systemic inflammatory and autoimmune disease (AD). However, the pathobiology and prognostic impact of AD in MDS have not been fully elucidated. Therefore, we aimed to investigate cytogenetic and molecular characteristics and prognostic significance of autoimmune disease in MDS.
Methods:
We retrospectively analyzed 1456 patients diagnosed with MDS at Asan Medical Center, Seoul, Korea, between 1989 and 2021.
Results:
Among all patients, 90 (6.2%) had AD. The most frequent cytogenetic abnormalities in AD+ group were trisomy 8 (22.2%), complex karyotypes (5.6%), and der (1;7) (q10;p10) (4.4%). BCORL1 (9.8% vs. 1.2%, P = .006) was significantly more frequent in AD+ patients. SETD2 (4.9% vs. 0.7%, P = .069) and WT1 mutations (7.3% vs. 1.7%, P = .055) showed a trend toward higher frequency in the AD+ group. The MDS patients with AD+ demonstrated significantly higher overall survival (OS) (58.7% vs. 40.7% at 5 years, P = .011) and leukemia-free survival (LFS) rates (53.9% vs. 34.7%, P = .006) compared to those without AD. In multivariable analyses, AD remained independently associated with improved OS (HR, 0.69; 95% CI, 0.50-0.96; P = .029) and LFS (HR, 0.64; 95% CI, 0.47-0.89; P = .007). Similar findings were observed in sensitivity analyses restricted to patients with definite autoimmune diseases. The favorable prognostic impact of AD was significant, particularly in higher-risk MDS.
Conclusion:
In conclusion, AD identifies a distinct subgroup of patients with MDS with favorable clinical outcomes. Trisomy 8 and BCORL1 mutations were enriched in patients with AD. Further studies are warranted to clarify the underlying mechanisms.
