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Background <p>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.</p> Case report <p>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.</p> Discussion <p>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.</p> Conclusion <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月25日

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  • Mohammed Rami,
  • Omayma Bourht,
  • Omar Oulghoul,
  • Mohamed Chehbouni,
  • Youssef Lakhdar,
  • Youssef Rochdi,
  • Abdelaziz Raji

摘要

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.