A rare association of tuberous sclerosis complex with inflammatory myofibroblastic tumours of the sinonasal cavities: a case report

Abstract Background Inflammatory myofibroblastic tumour (IMT) is a rare mesenchymal neoplasm that typically arises in the lungs or abdomen. Sinonasal involvement is exceptionally rare and often mimics malignancy. Tuberous sclerosis complex (TSC) is a genetic disorder characterised by multisystem hamartomas; however, its association with IMT has not previously been reported. Case report We present the case of a 16-year-old female with a history of TSC who developed bilateral nasal obstruction, facial pain, and right-sided exophthalmos. Imaging revealed an aggressive sinonasal mass with orbital invasion. After several inconclusive biopsies, histopathological and immunohistochemical evaluation confirmed ALK-positive IMT. Complete endoscopic resection was performed, and the patient was placed on Crizotinib. Four-month follow-up MRI showed no recurrence. Discussion The diagnosis was particularly challenging due to overlapping features with infectious and neoplastic conditions and coexisting fungal colonisation. Immunohistochemistry and molecular studies were crucial for definitive diagnosis and treatment planning. Although no gene fusion was detected, ALK expression guided the use of Crizotinib. Conclusion This report documents the first known case of sinonasal IMT associated with TSC, highlighting the importance of considering IMT in the differential diagnosis of aggressive sinonasal lesions in syndromic patients. Multidisciplinary management and targeted therapy are essential for optimal outcomes.