Myelodysplastic syndrome with autoimmune disease: clinical and molecular features and survival outcomes

Authors:
  • ECEun-Ji Choi
    Eun-Ji Choi
  • HPHyunkyung Park
    Hyunkyung Park
  • YCYoung-Uk Cho
    Young-Uk Cho
  • JHJoon Young Hur
    Joon Young Hur
  • JJJisoo Jeong
    Jisoo Jeong
  • SCSeungah Cha
    Seungah Cha
  • YLYoung-Shin Lee
    Young-Shin Lee
  • MJMijin Jeon
    Mijin Jeon
  • JWJi Min Woo
    Ji Min Woo
  • YKYoung-Ah Kang
    Young-Ah Kang
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Abstract
Background: The myelodysplastic syndromes (MDS) frequently present with heterogeneous autoimmune diseases (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=0.006) and DNAH9 mutations (11.9% vs. 0%, P=0.014) were significantly more frequent in AD+ patients. SETD2 (4.9% vs. 0.7%, P=0.069) and WT1 mutations (7.3% vs. 1.7%, P=0.055) 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=0.011) and leukemia-free survival (LFS) rates (53.9% vs. 34.7%, P=0.006) compared to those without AD. The favorable prognostic impact of AD was significant, particularly in higher-risk MDS. The skin manifestation of AD and diagnosis of AD (> 1 month) after MDS onset predicted better survival.Conclusion: AD in MDS is associated with distict clinical and molecular features and a more favorable prognosis, especially in higher-risk MDS. Trisomy 8 and der (1;7) as well as somatic mutations in BCORL1, DNAH9, SETD2, and WT1, may be associated with the co-occurrence of AD in MDS.