PURPOSE: We discuss the coexistence of Klippel-Trénaunay-Weber syndrome with various malignancies, the possible histogenetic pathways and therapeutic implications. PATIENT: We report on a 46-year-old man presenting with increasing pain and swelling of his right lower leg after fracturing his fibula. Since birth he was known as having the uncommon syndrome of Klippel-Trénaunay-Weber of his right lower leg. METHODS: Our patient underwent an above-knee amputation for biopsy-proven malignant vascular tumour, first thought to be a composite hemangio-endothelioma and/or angiosarcoma with lung metastases. RESULTS: In the amputated extremity, a vascular malformation was found with tumour showing various components with foci of angiosarcoma adjacent to diffuse neurofibroma and areas with high-grade malignant peripheral nerve sheath tumour. Amputation and palliative chemotherapy were indicated, but he died of pulmonary and cerebral metastases 2 months postoperatively. DISCUSSION: This case describes an angiosarcoma with malignant peripheral nerve sheath tumour developing in a patient with Klippel-Trénaunay-Weber syndrome. A case never described before in literature and probably, as in our case, difficult to diagnose at first biopsy.
PURPOSE: We discuss the coexistence of Klippel-Trénaunay-Weber syndrome with various malignancies, the possible histogenetic pathways and therapeutic implications. PATIENT: We report on a 46-year-old man presenting with increasing pain and swelling of his right lower leg after fracturing his fibula. Since birth he was known as having the uncommon syndrome of Klippel-Trénaunay-Weber of his right lower leg. METHODS: Our patient underwent an above-knee amputation for biopsy-proven malignant vascular tumour, first thought to be a composite hemangio-endothelioma and/or angiosarcoma with lung metastases. RESULTS: In the amputated extremity, a vascular malformation was found with tumour showing various components with foci of angiosarcoma adjacent to diffuse neurofibroma and areas with high-grade malignant peripheral nerve sheath tumour. Amputation and palliative chemotherapy were indicated, but he died of pulmonary and cerebral metastases 2 months postoperatively. DISCUSSION: This case describes an angiosarcoma with malignant peripheral nerve sheath tumour developing in a patient with Klippel-Trénaunay-Weber syndrome. A case never described before in literature and probably, as in our case, difficult to diagnose at first biopsy.
Authors: Matthew Breen; Jaime F Modiano; Ingegerd Elvers; Kerstin Lindblad-Toh; Kate Megquier; Jason Turner-Maier; Ross Swofford; Jong-Hyuk Kim; Aaron L Sarver; Chao Wang; Sharadha Sakthikumar; Jeremy Johnson; Michele Koltookian; Mitzi Lewellen; Milcah C Scott; Ashley J Schulte; Luke Borst; Noriko Tonomura; Jessica Alfoldi; Corrie Painter; Rachael Thomas; Elinor K Karlsson Journal: Mol Cancer Res Date: 2019-09-30 Impact factor: 5.852
Authors: Lars E van der Loo; Jan Beckervordersandforth; Albert J Colon; Olaf E M G Schijns Journal: Acta Neurochir (Wien) Date: 2016-11-07 Impact factor: 2.216