Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma
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 presentati...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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SMC MEDIA SRL
2024-03-01
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| Series: | European Journal of Case Reports in Internal Medicine |
| Subjects: | |
| Online Access: | https://www.ejcrim.com/index.php/EJCRIM/article/view/4432 |
| _version_ | 1797224800422199296 |
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| author | Mohamed A. Gharbi Faten Limaiem Khaled B. Romdhane Anis Tebourbi Ramzi Bouzidi Mouadh Nefiss |
| author_facet | Mohamed A. Gharbi Faten Limaiem Khaled B. Romdhane Anis Tebourbi Ramzi Bouzidi Mouadh Nefiss |
| author_sort | Mohamed A. Gharbi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T13:58:52Z |
| format | Article |
| id | doaj.art-56d4677e64f8451caecd28c176bb0cc6 |
| institution | Directory Open Access Journal |
| issn | 2284-2594 |
| language | English |
| last_indexed | 2024-04-24T13:58:52Z |
| publishDate | 2024-03-01 |
| publisher | SMC MEDIA SRL |
| record_format | Article |
| series | European Journal of Case Reports in Internal Medicine |
| spelling | doaj.art-56d4677e64f8451caecd28c176bb0cc62024-04-03T13:10:13ZengSMC MEDIA SRLEuropean Journal of Case Reports in Internal Medicine2284-25942024-03-0110.12890/2024_0044323967Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcomaMohamed A. Gharbi0Faten Limaiem1Khaled B. Romdhane2Anis Tebourbi3Ramzi Bouzidi4Mouadh Nefiss5University of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Department of Orthopaedic and Trauma Surgery, Mongi Slim Marsa University Hospital Centre, Tunis, TunisiaUniversity of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Pathology Department, Mongi Slim Marsa University Hospital Centre, Tunis, TunisiaPrivate Pathology Laboratory, Tunis, TunisiaUniversity of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Department of Orthopaedic and Trauma Surgery, Mongi Slim Marsa University Hospital Centre, Tunis, TunisiaUniversity of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Department of Orthopaedic and Trauma Surgery, Mongi Slim Marsa University Hospital Centre, Tunis, TunisiaUniversity of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Department of Orthopaedic and Trauma Surgery, Mongi Slim Marsa University Hospital Centre, Tunis, TunisiaBackground: 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.https://www.ejcrim.com/index.php/EJCRIM/article/view/4432neurofibromatosis type 1epithelioid sarcomasoft-tissue tumour |
| spellingShingle | Mohamed A. Gharbi Faten Limaiem Khaled B. Romdhane Anis Tebourbi Ramzi Bouzidi Mouadh Nefiss Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma European Journal of Case Reports in Internal Medicine neurofibromatosis type 1 epithelioid sarcoma soft-tissue tumour |
| title | Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma |
| title_full | Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma |
| title_fullStr | Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma |
| title_full_unstemmed | Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma |
| title_short | Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma |
| title_sort | uncommon thigh mass in neurofibromatosis type 1 unveiling aggressive epithelioid sarcoma |
| topic | neurofibromatosis type 1 epithelioid sarcoma soft-tissue tumour |
| url | https://www.ejcrim.com/index.php/EJCRIM/article/view/4432 |
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