Clinical features and prognosis of patients with gastrointestinal Behçet's disease-like syndrome and myelodysplastic syndrome with and without trisomy 8.

OBJECTIVES

Chromosome abnormalities have certain impacts on the disease mechanism in patients with gastrointestinal Behçet's disease-like syndrome (GIBS) and myelodysplastic syndrome (MDS). This study aimed to investigate the clinical characteristics and long-term outcomes of patients with GIBS-MDS and the potential role(s) played by trisomy 8 from a gastroenterology perspective.

METHODS

A retrospective cohort of 18 patients with GIBS-MDS in China was analysed, and 97 reported cases with individual data from the literature were reviewed in total. The primary outcome was overall survival (OS). Cox regression analysis was performed on the influencing factors of OS.

RESULTS

Of the 115 patients included in the study, with a majority from East Asia (92.2%), there were 66 (57.4%) female patients and 76 (66.7%) patients with GIBS onset before MDS, and the ileocecum (45, 48.9%) was the most common location of gastrointestinal (GI) involvement. In addition, 91 (79.1%) patients had the chromosome abnormality of trisomy 8, and 32 (33.7%) patients died. Cox regression analysis demonstrated that a region of origin of East Asia (HR [hazard ratio]: 0.36, 95% CI [confidence interval]: 0.14 to 0.96, p = 0.041) rather than trisomy 8 (HR: 0.71, 95% CI: 0.30 to 1.68, p = 0.428) was identified as an independent protective factor for survival.

CONCLUSIONS

Compared to patients without trisomy 8, GIBS-MDS patients with trisomy 8 showed unique clinical characteristics but an unfavorable OS. The region of origin rather than trisomy 8 syndrome played a more important role in the prognosis of GIBS-MDS patients.