Certain Autoimmune Manifestations Are Associated With Distinctive Karyotypes and Outcomes in Patients With Myelodysplastic Syndrome: A Retrospective Cohort Study

Abstract

Autoimmune manifestations (AIMs) are common in patients with myelodysplastic syndrome (MDS). This study aimed to investigate whether AIMs are associated with a specific cytogenetic abnormalities and worse survival in patients with MDS. A total of 67 MDS patients with AIMs and 134 age- and sex-matched MDS patients without AIMs, all of whom received medical care at Seoul National University Hospital from January 2000 through July 2014, were enrolled. The clinical features, chromosomal abnormalities, and outcomes were examined. The effect of AIMs on mortality was estimated after adjusting for age, sex, and the International Prognostic Scoring System. The mean age (±SD) at the time of MDS diagnosis was 54.5 ± 17.1 years, and 44.8% of patients were male. Neutrophilic dermatosis (ND; Sweet syndrome and pyoderma gangrenosum) was the most prevalent AIM (n = 24 36%]), followed by Behcet disease (10 [15%]), rheumatoid arthritis (9 [13%]), vasculitis (8 [12%]), myositis (3 [4%]), spondyloarthropathy (3 [4%]), and systemic lupus erythematous (2 [3%]). ND and vasculitis occurred at the time of MDS diagnosis, whereas other AIMs occurred years after MDS diagnosis. Deletion of 5q was associated with ND (P = 0.001), whereas trisomy 8 was associated with Behcet disease (P = 0.015). Strikingly, ND was associated with a 1.8-fold increase in mortality (95% CI 1.033-3.093; P = 0.038). Certain AIMs in MDS patients are associated with distinctive karyotypes and worse survival. A larger study is needed to confirm whether the presence of AIMs influences disease outcome in MDS.

FIGURE 1

Distribution of AIMs in 67 MDS patients (A) and time from AIM diagnosis to MDS (B). AIM = autoimmune manifestations, BD = Behcet disease, MDS = myelodysplastic syndrome, ND = neutrophilic dermatosis, RA = rheumatoid arthritis, SLE = systemic lupus erythematous, SpA = spondyloarthropathy, yrs = years.

FIGURE 2

Comparison of karyotypes in MDS patients with and without AIMs. (A) Distribution of chromosomal abnormalities in MDS patients with AIMs. (B) Comparison between MDS patients with and without AIMs in terms of 5q deletion (B) or trisomy 8 (C), either alone or in conjunction with additional karyotypic abnormalities. AIMs = autoimmune manifestations, BD = Behcet disease, Del = deletion, ND = neutrophilic dermatosis.

FIGURE 3

Survival of MDS patients with different AIMs. (A) Kaplan-Meier survival curves. ∗P = 0.003 denotes the difference in survival between MDS patients with neutrophilic dermatosis (ND) and MDS patients with no AIMs. (B) Cox hazard ratio for mortality after adjusting for age, sex, and IPSS. Hazard ratios and 95% confidence intervals are shown in brackets (B). BD = Behcet disease, ND = neutrophilic dermatosis, RA = rheumatoid arthritis, SpA = spondyloarthropathy, SLE = systemic lupus erythematous, IPSS = The International Prognostic Scoring System.