Detection of VHL deletion by fluorescence in situ hybridization in extraneuraxial hemangioblastoma of soft tissue
Detection of VHL deletion by fluorescence in situ hybridization in extraneuraxial hemangioblastoma of soft tissue
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DOI：
10.1111/pin.12935
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发表时间：
2020-04
影响因子：
2.2
通讯作者：
K. Segawa;S. Sugita;Tomoyuki Aoyama;S. Minami;K. Nagashima;M. Tsuda;S. Tanaka;T. Hasegawa
中科院分区：
文献类型：
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作者：
K. Segawa;S. Sugita;Tomoyuki Aoyama;S. Minami;K. Nagashima;M. Tsuda;S. Tanaka;T. Hasegawa
编者按：血管母细胞瘤(HB)是一种良性肿瘤，往往发生在中枢神经系统(CNS)。组织学上，它由增殖的间质细胞和网状毛细血管组成。大约75%的HBs是零星发生的，其余的与常染色体显性遗传性von Hippel-Lindau(VHL)病有关。VHL病的多种器官可发生肿瘤，包括中枢和脊髓的HB、视网膜血管瘤、肾细胞癌、肾上腺嗜铬细胞瘤和胰腺神经内分泌肿瘤。这些肿瘤的发生是由于VHL基因的胚系突变，VHL基因是一种肿瘤抑制基因，定位于染色体3p25-26。在中枢神经系统散发性HBs中也发现了VHL胚系突变和体细胞VHL基因改变。众所周知，一些HBs发生在包括内脏器官、软组织和骨骼在内的神经外部位，在VHL病的背景下，神经外HBs零星发展。然而，到目前为止，很少有研究分析神经外HB的VHL基因[1]。在此，我们报告一例发自软组织的散发性神经外型HB，通过荧光原位杂交(FISH)检测到VHL基因缺失。
To the editor: Hemangioblastoma (HB) is a benign tumor that tends to occur in the central nervous system (CNS). Histologically, it is composed of proliferating stromal cells accompanied by mesh-like capillary vessels. Approximately 75% of HBs occur sporadically, with the remainder occurring in association with the autosomal dominantly inherited von Hippel-Lindau (VHL) disease. Multiple neoplasms can arise in various organs in VHL disease and may include HB of the CNS and spinal cord, retinal hemangioma, renal cell carcinoma, adrenal pheochromocytoma, and pancreatic neuroendocrine tumor. These neoplasms develop due to germline mutation of the VHL gene, which is a tumor suppressor gene mapped to chromosome 3p25-26. The VHL germline mutation and somatic VHL gene alterations have also been revealed in sporadic HBs of the CNS. It is known that some HBs occur in extraneuraxial sites including visceral organs, soft tissues, and bones, and extraneuraxial HBs develop sporadically in the setting of VHL disease. To date, however, few studies have analyzed the VHL gene in extraneuraxial HB [1]. Here, we report a case of sporadic extraneuraxial HB that arose from the soft tissue in which VHL gene deletion was detected by fluorescence in situ hybridization (FISH).