Von Hippel-Lindau disease is a rare autosomic dominant hereditary tumoral syndrome characterized by mutation of the VHL gene. Here follows the first reported case of a patient (20 year old male) affected by Von Hippel-Lindau (VHL) disease, was referred to our Department because of the occurrence of a hard lump at the right aspect of the pelvis, who presented a primary mildly differentiated chondrosarcoma of the right iliac wing (confirmed by CT scan). Chondrosarcoma of the iliac wing, treated by surgical resection and reconstruction of the pelvis with appropriately shaped bone allograft fixed with plates and screws. At one year follow-up, the patient shows no signs of recurrence. Conventional treatment for chondrosarcoma of the iliac wing would be either wide or radical resection (hemipelvectomy), or amputation. The described treatment is unusual in that it is dependent on patient's choice to privilege quality of life due to the awareness of being affected by a genetic disease with an inauspicious prognosis.

Chondrosarcoma of the iliac wing in Von Hippel-Lindau disease

Marinozzi A;Papapietro N;Tonini G;Denaro V
2007-01-01

Abstract

Von Hippel-Lindau disease is a rare autosomic dominant hereditary tumoral syndrome characterized by mutation of the VHL gene. Here follows the first reported case of a patient (20 year old male) affected by Von Hippel-Lindau (VHL) disease, was referred to our Department because of the occurrence of a hard lump at the right aspect of the pelvis, who presented a primary mildly differentiated chondrosarcoma of the right iliac wing (confirmed by CT scan). Chondrosarcoma of the iliac wing, treated by surgical resection and reconstruction of the pelvis with appropriately shaped bone allograft fixed with plates and screws. At one year follow-up, the patient shows no signs of recurrence. Conventional treatment for chondrosarcoma of the iliac wing would be either wide or radical resection (hemipelvectomy), or amputation. The described treatment is unusual in that it is dependent on patient's choice to privilege quality of life due to the awareness of being affected by a genetic disease with an inauspicious prognosis.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12610/6322
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