• 作者：F.S. Lozano Sá ; nchez^a ; ^{lozano@usal.es} ; M. Nú ; ñ ; ez Lozano^b ; P. Santos Gorjó ; n^c ; A. Masegosa Medina^d ; Á ; . Muñ ; oz Herrera^c ; R. Gonzá ; lez Sarmiento^b
• 关键词：Paragangliomas carotí ; deos ; Paragangliomas familiares ; Paragangliomas mú ; ltiples ; Paragangliomas malignos ; Mutaciones gené ; ticas ; Complejo succinato deshidrogenasa
• 刊名：Angiolog铆a
• 出版年：2010
• 期刊代码：pca50_00033170
• 类别：med
• 出版时间：November-December 2010
• 卷：62
• 期：6
• 页码：214-218
• 文件大小：162 K

Introduction

Carotid paragangliomas (CPGs) are uncommon tumours which tend to be isolated and benign. However, there are controversies over their biological behaviour and natural history.

Aim

To correlate the presence of mutations of succinate dehydrogenase (SDH) complex genes with the appearance of atypical CPGs (bilateral, multicentral and malignant).

Patients and methods

We carried out mutation analyses in 18 patients with sporadic CPGs and 2 patients with familial CPGs. Two patients had multiple locations and three had a malignant outcome. After obtaining informed consent, peripheral blood was obtained to perform a genomic study according to a standard protocol.

Results

We identified SHD mutations in six patients (30%), 100%in familial CPGs (2/2) and 22.2%in sporadic CPGs (4/18). Both patients with multiple CPGs showed mutations in SDH (SDH subunit B and SDH subunit C). Two of three patients with CPGs and malignant outcome showed mutation in the SDH subunit B gene. In familial CPGs, we studied three children and we found a positive case (SDHB). Finally, we identified three novel SHD mutations (SDHB c.472 del A, SDHC c.A377G; and SDHC c.A21G).

Conclusion

SDH mutations are responsible for the trend to suffer CPGs in both familial and sporadic forms and may play an important role in multiple CPGs and malignant PGs.