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. 2024 Mar 28;11(4):004432.
doi: 10.12890/2024_004432. eCollection 2024.

Uncommon Thigh Mass in Neurofibromatosis Type 1: Unveiling Aggressive Epithelioid Sarcoma

Mohamed A Gharbi  1   2 , Faten Limaiem  1   3 , Khaled B Romdhane  4 , Anis Tebourbi  1   2 , Ramzi Bouzidi  1   2 , Mouadh Nefiss  1   2
Affiliations

Uncommon Thigh Mass in Neurofibromatosis Type 1: Unveiling Aggressive Epithelioid Sarcoma

Mohamed A Gharbi et al. Eur J Case Rep Intern Med. .

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.

Learning points: Patients with neurofibromatosis type 1 or von Recklinghausen's disease have a higher risk than those with other types of neurofibromatosis of developing benign or malignant soft-tissue tumours especially related to the nervous system.Epithelioid sarcoma is an extremely rare subtype of soft-tissue sarcoma and is exceptionally associated with neurofibromatosis type 1.A multidisciplinary approach remains essential in the diagnosis, management, and treatment of soft-tissue sarcomas in patients with neurofibromatosis type 1.

Keywords: Neurofibromatosis type 1; epithelioid sarcoma; soft-tissue tumour.

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Conflict of interest statement

Conflicts of Interests: The Authors declare that there are no competing interests.

Figures

Figure 1
Figure 1
A) Presence of multiple cutaneous neurofibromas located on the neck, the thorax and abdomen of the patient; B) Presence of café-au-lait patches and multiple neurofibromas located on the back of the patient.
Figure 2
Figure 2
A) Axial and B) Sagittal MRI of the right thigh revealing a well-defined tissue mass originating from the adductor magnus muscle. The mass exhibited a heterogeneous solid-cystic signal, predominantly showing signs of haemorrhage, and demonstrated heterogeneous enhancement after gadolinium injection. It measured 10 × 11.5 cm in the axial plane and extended over a height of 14 cm in the sagittal plane, with no signs of extension into the surrounding muscular and bony structures.
Figure 3
Figure 3
A) Nodular malignant tumour proliferation invading the adjacent tissues (H&E, × 40); B) Malignant tumour proliferation with extensive areas of necrosis (asterisk) (H&E, × 40); C) Tumour composed of sheets of large round or polygonal epithelioid cells with focal areas of haemorrhage (asterisk) (H&E, × 100); D) Tumour cells have abundant ill-defined eosinophilic cytoplasm, pleomorphic hyperchromatic irregularly shaped nuclei of varying sizes with open chromatin and prominent central nucleoli. Several mitotic figures were observed (H&E, × 400).
Figure 4
Figure 4
Image taken 15 days after surgical biopsy, demonstrating an increase in the size of the tumour located at the root of the thigh, accompanied by local inflammatory signs such as redness, warmth, and pain. No discharge of pus or serous fluid was observed.
See this image and copyright information in PMC

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