Suppr超能文献

携带 SDHB 种系突变的患者中连续发生双侧头颈部副神经节瘤。

Contiguous bilateral head and neck paragangliomas in a carrier of the SDHB germline mutation.

机构信息

Section of Vascular and Endovascular Surgery, Danbury Hospital, 41 Germantown Rd, Suite 101, Danbury, CT 06810, USA. [corrected].

出版信息

J Vasc Surg. 2012 Jan;55(1):216-9. doi: 10.1016/j.jvs.2011.06.084. Epub 2011 Aug 6.

Abstract

Paragangliomas are extremely rare neoplasms with multicentric presentation usually linked to familial tumor syndromes. This patient presented with the uncommon combination of concurrent bilateral carotid body tumors and a unilateral glomus jugulare mass that demonstrated vascular continuity. During treatment, the patient was found to be heterozygous for the SDHB germline mutation, an autosomal dominant genotype of the familial paraganglioma syndromes associated with increased malignancy. The unique profile of the SDHB patient as regards primary evaluation, surgical considerations, and extended surveillance was explored and has led to a proposed treatment algorithm for these patients.

摘要

副神经节瘤是一种极为罕见的肿瘤,多灶性表现通常与家族性肿瘤综合征有关。该患者表现为同时发生的双侧颈动脉体肿瘤和单侧颈静脉球瘤的罕见组合,且具有血管连续性。在治疗过程中,该患者被发现携带 SDHB 种系突变的杂合子,这是一种与恶性程度增加相关的家族性副神经节瘤综合征的常染色体显性基因型。探讨了该 SDHB 患者在初次评估、手术考虑和扩展监测方面的独特情况,并提出了针对这些患者的治疗算法。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验