Effects of VHL deficiency on endolymphatic duct and sac
Effects of VHL deficiency on endolymphatic duct and sac
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DOI：
10.1158/0008-5472.can-05-1104
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发表时间：
2005-12-01
期刊：
影响因子：
11.2
通讯作者：
Vortmeyer, AO
中科院分区：
文献类型：
--
作者：
Gläsker, S;Lonser, RR;Vortmeyer, AO
Von Hippel-Lindau(VHL)病是由VHL生殖系突变引起的。VHL基因野生型拷贝的失活导致中枢神经系统(CNS)、肾脏、胰腺、肾上腺、附睾腺、宽韧带和内淋巴囊/岩骨中缺氧反应的上调和肿瘤的形成。内淋巴囊肿瘤(ELST)被认为来源于内淋巴囊上皮，但也涉及到其他可能的起源结构。为了阐明ELSTS的解剖和细胞起源，我们对16例肿瘤进行了形态和分子病理学分析。此外，我们还研究了VHL缺陷对VHL患者“无肿瘤”内淋巴管和内淋巴囊的影响。这项研究中包括的几种肿瘤是
The von Hippel-Lindau (VHL) disease is caused by VHL germ line mutation. Inactivation of the wild-type copy of the VHL gene leads to up-regulation of hypoxic response and tumor formation within central nervous system (CNS), kidneys, pancreas, adrenal glands, epididymis, broad ligament, and the endolymphatic sac/petrous bone. Endolymphatic sac tumors (ELST) have been proposed to be derived from endolymphatic sac epithelium, but other possible structures of origin have been implicated. To clarify the anatomic and cellular origin of ELSTs, we did a morphologic and molecular pathologic analysis of 16 tumors. In addition, we investigated effects of VHL deficiency on "tumor-free" endolymphatic duct and sac of VHL patients. Several tumors included in this study were