Trisomy 8 is a frequent chromosomal abnormality that occurs among patients with myelodysplastic syndrome (MDS). This abnormality is more common among MDS patients with concurrent Behcet's disease (BD) than among patients with MDS alone. This comorbidity is also associated with a higher prevalence of intestinal ulcers. In this case report, we describe a 45-year-old woman who was diagnosed with BD at age 35. Eight years later, her Behcet's disease relapsed with trisomy 8-positive MDS. After the disease was controlled by azacitidine, the patient received allogeneic hematopoietic stem cell transplantation (allo-HSCT), which involved the use of both peripheral blood stem cells and bone marrow stem cells. Although the patient experienced grave oral mucositis and chronic intestinal graft-versus-host disease (GVHD), remission of both MDS and BD was maintained. This case highlights the potential efficacy of allo-HSCT in treating patients with refractory autoimmune diseases complicated by MDS, particularly patients with trisomy 8 abnormalities. We also discuss the immunological implications and suggest allo-HSCT as a viable curative option for patients with BD and MDS.
Keywords: Behcet's disease; Hematopoietic stem cell transplantation; Myelodysplastic syndrome; Trisomy 8.
© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.