Sköldberg F, Grimelius L, Woodward E R, Rorsman F, Van Schothorst E W, Winqvist O, Karlsson F A, Akerström G, Kämpe O, Husebye E S
Department of Internal Medicine, Uppsala University Hospital, Sweden.
Clin Endocrinol (Oxf). 1998 Jan;48(1):11-6. doi: 10.1046/j.1365-2265.1998.00320.x.
To characterize a family with hereditary paraganglioma, and to search for germline mutations in the von Hippel-Lindau disease (VHL) tumour suppressor gene and the ret proto-oncogene.
Patient records and histopathological reports were reviewed. Available tumour samples were reinvestigated using immunohistochemical techniques. The VHL gene was investigated by single strand conformational polymorphism analysis of PCR products amplified from exons 1, 2 and 3 and the 3' untranslated region. The ret gene was analysed by amplifying and sequencing exons 10, 11 and 16.
A family with paragangliomas in three consecutive generations was investigated.
The affected individuals were found to have multiple extra-adrenal paragangliomas. All three affected individuals had retroperitoneal tumours, and two also had paraganglioma in the neck. No mutations of the VHL or ret genes were detected.
The described family may represent a novel dominantly inherited neuroendocrine tumour syndrome.
对一个遗传性副神经节瘤家系进行特征分析，并寻找冯·希佩尔－林道病（VHL）肿瘤抑制基因和原癌基因ret中的种系突变。
回顾患者记录和组织病理学报告。利用免疫组化技术对现有的肿瘤样本进行重新研究。通过对从第1、2和3外显子以及3'非翻译区扩增的PCR产物进行单链构象多态性分析来研究VHL基因。通过扩增和测序第10、11和16外显子来分析ret基因。
对一个连续三代患有副神经节瘤的家系进行了研究。
发现受影响个体患有多个肾上腺外副神经节瘤。所有三名受影响个体均有腹膜后肿瘤，两名还患有颈部副神经节瘤。未检测到VHL或ret基因的突变。
所描述的家系可能代表一种新的显性遗传神经内分泌肿瘤综合征。
