Chauffert Bruno, Alsuliman Tamim, Oueslati Hanene, Ouikene Abdenour, Belkhir Farid, Nemmaoui Sana, Cau Alexandre, Galez Agnes, Garnier Thomas, Salle Valéry, Garidi Reda
Department of Oncology-Hematology, Centre Hospitalier de Saint-Quentin, 1 Av. Michel de l'Hospital BP 608, 02321 Saint-Quentin, France.
Department of Radiotherapy, Centre Hospitalier de Saint-Quentin, 02321 Saint-Quentin, France.
J Clin Med. 2025 Aug 12;14(16):5694. doi: 10.3390/jcm14165694.
: Rendu-Osler disease is a rare genetic disease, characterized by widespread telangiectasia that can involve the skin and mucous membranes. The diagnosis is based on spontaneous and recurrent epistaxis; various mucosal and cutaneous telangiectasia at typical sites; visceral manifestations including gastrointestinal telangiectasia or pulmonary, cerebral, or hepatic arteriovenous malformation; and a first-degree relative with hereditary hemorrhagic telangiectasia. Squamous cell carcinoma of the larynx generally develops in patients with a smoking history. It is most often treated by surgery and/or radiotherapy. To our knowledge, these two entities were never reported in the same patient. We herein report a case of a 51-year-old man with Rendu-Osler disease. He was subsequently diagnosed with a locally advanced well-differentiated squamous cell carcinoma of the vocal cord. The patient received a neo-adjuvant chemo-immunotherapy, with nine weekly injections of paclitaxel (60 mg/m/week), cisplatin (30 mg/m/week), and cetuximab (250 mg/m/week), and three injections of pembrolizumab (200 mg every 3 weeks). This controlled tumor bleeding, and then cisplatin-enhanced radiotherapy helped obtain a complete remission. Locally advanced squamous cell carcinoma of the larynx treatment in the context of active Rendu-Osler disease is challenging. If the wide curative surgical approach is deemed too risky, neo-adjuvant chemo-immunotherapy may present a helpful alternative as it may enhance the conditions in order to perform classical radiotherapy with concomitant cisplatin.
遗传性出血性毛细血管扩张症是一种罕见的遗传性疾病,其特征是广泛的毛细血管扩张,可累及皮肤和黏膜。诊断依据为自发性和复发性鼻出血;典型部位出现各种黏膜和皮肤毛细血管扩张;内脏表现包括胃肠道毛细血管扩张或肺、脑或肝动静脉畸形;以及有遗传性出血性毛细血管扩张症的一级亲属。喉鳞状细胞癌通常发生在有吸烟史的患者中。其治疗通常采用手术和/或放疗。据我们所知,这两种疾病从未在同一患者中报道过。我们在此报告一例51岁患有遗传性出血性毛细血管扩张症的男性患者。随后他被诊断为局部晚期高分化声带鳞状细胞癌。该患者接受了新辅助化疗免疫治疗,每周注射9次紫杉醇(60mg/m²/周)、顺铂(30mg/m²/周)和西妥昔单抗(250mg/m²/周),并注射3次帕博利珠单抗(每3周200mg)。这控制了肿瘤出血,随后顺铂增强放疗帮助实现了完全缓解。在活动性遗传性出血性毛细血管扩张症背景下治疗局部晚期喉鳞状细胞癌具有挑战性。如果广泛的根治性手术方法被认为风险太大,新辅助化疗免疫治疗可能是一种有用的替代方法,因为它可能改善条件以便进行联合顺铂的经典放疗。