Behçet’s syndrome-like features revealing myelodysplastic syndrome with TP53 mutation: a case report

The coexistence of Behçet’s syndrome (BS) and myelodysplastic neoplasm (MDS) is increasingly recognized and is often referred to as MDS with BS-like features. These patients demonstrate a distinctive profile characterized by a high prevalence of trisomy 8 and limited response to conventional immunosuppressive therapy. However, the mutational profile of this rare entity remains almost entirely unexplored. Here, we report a 36-year-old female presenting with painful oral and genital ulcers who is subsequently diagnosed with an atypical form of BS. Nonetheless, whole-exome sequencing identified monoallelic TP53 and SF3B1 mutations, findings highly indicative of MDS. After confirmation of diagnosis and prognostic assessment, the patient ultimately underwent successful allogeneic stem cell transplantation. This case highlights the importance of comprehensive genomic profiling in diagnosing, risk-stratifying, and managing patients with rare hematological entities presenting with autoinflammatory phenomena.