Beyond expectations - malignant pleural mesothelioma in a patient with Bardet-Biedl syndrome

Introduction. Bardet-Biedl syndrome (BBS) is a rare auto-somal recessive ciliopathy caused by structural and functional abnormalities of primary cilia, leading to disruption of key signaling pathways. It is clinically characterized by progressive retinal degeneration, polydactyly, early-onset obesity, cognitive impairment, hypogonadism, and renal abnormalities. Malignant mesothelioma (MM) is a malignant tumor of mesothelial cells that most commonly affects the pleura and is strongly associated with asbestos exposure and poor prognosis. In addition to environmental factors, genetic predisposition may contribute to its pathogenesis. Case report. We present a 27-year-old male with BBS who was evaluated for chest pain and progressive dyspnea. Pleural fluid analysis and video-assisted thoracoscopic pleural biopsy confirmed epithelioid pleural MM. The patient received systemic chemotherapy with pemetrexed and cisplatin, together with palliative treatment for recurrent pleural effusions. Therapeutic options were further limited by the underlying genetic disorder. Despite advanced disease and limited treatment options, the patient achieved unexpectedly prolonged overall survival of 7 years from the time of MM diagnosis. Conclusion. This case illustrates the diagnostic and therapeutic complexity of managing malignancies in patients with rare genetic syndromes and emphasizes the importance of an individualized multidisciplinary approach. It also raises the possibility that ciliary dysfunction may contribute to mesothelioma pathogenesis, warranting further molecular and clinical investigation.