Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma
  • Mohamed A. Gharbi
    University of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Department of Orthopaedic and Trauma Surgery, Mongi Slim Marsa University Hospital Centre, Tunis, Tunisia
  • Faten Limaiem
    University of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Pathology Department, Mongi Slim Marsa University Hospital Centre, Tunis, Tunisia
  • Khaled B. Romdhane
    Private Pathology Laboratory, Tunis, Tunisia
  • Anis Tebourbi
    University of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Department of Orthopaedic and Trauma Surgery, Mongi Slim Marsa University Hospital Centre, Tunis, Tunisia
  • Ramzi Bouzidi
    University of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Department of Orthopaedic and Trauma Surgery, Mongi Slim Marsa University Hospital Centre, Tunis, Tunisia
  • Mouadh Nefiss
    University of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Department of Orthopaedic and Trauma Surgery, Mongi Slim Marsa University Hospital Centre, Tunis, Tunisia

Keywords

Neurofibromatosis type 1, epithelioid sarcoma, soft-tissue tumour

Abstract

Background: Patients with neurofibromatosis type I (NF1) have an increased risk of developing soft-tissue sarcomas, particularly those related to the nervous system. Epithelioid sarcoma (ES) is an exceptionally rare subtype of soft-tissue sarcoma, with limited knowledge about its clinical presentation and optimal management in NF1. This report aims to provide insights into the characteristics and outcomes of ES in NF1 patients.
Case description: A 37-year-old man with a history of NF1 presented with a progressively worsening mass on his right inner thigh. An MRI scan revealed a well-defined tissue mass originating from the adductor magnus muscle, later confirmed as ES through histopathology and immunohistochemistry. Considering poor local and general prognosis, the multidisciplinary team recommended salvage hip disarticulation, however the patient refused and opted for palliative marginal resection to reduce the tumour size. The patient’s condition declined rapidly, and he succumbed six days after the surgery.
Conclusion: This case highlights the rarity of ES in NF1 patients and underscores the potential for malignant tumour development in this population. Further research is needed to improve our understanding and management of sarcomas in the context of NF1.

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    Published: 2024-03-28
    Issue: 2024: Vol 11 No 4 (view)


    How to cite:
    1.
    Gharbi MA, Limaiem F, Romdhane KB, Tebourbi A, Bouzidi R, Nefiss M. Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma. EJCRIM 2024;11 doi:10.12890/2024_004432.