We investigated the role of immunohistochemistry in the assessment of CA9, GLUT1, and PAX8 expression in VHL disease-related lesions. Clinicopathologic information and archived pathology material from 5 patients with VHL disease were reviewed and evaluated for expression of CA9, GLUT1, and PAX8.

碳酸酐酶IX (carbonic anhydrase IX, CAIX，CA9)是一个由459个氨基酸组成的跨膜蛋白，由四个结构域组成：N端蛋白多糖样结构域（PG）、CA催化结构域（CA）、单通螺旋跨膜区和短的胞内尾巴。

2019年8月5日 · CA9 immunohistochemistry on paragangliomas will improve the diagnosis of VHL-related disease, which is important for the surveillance and therapeutic management of paraganglioma patients,...

2024年10月15日 · As CA9 is a marker of the hypoxic inducible factor-alpha1 cascade, its overexpression has been well known to present in clear cell renal cell carcinoma that involves the mutation of VHL gene. A few studies demonstrate overexpression of CA9 in hemangioblastomas, but not in other primary brain tumors such as gliomas and meningioma.

CA9 is not expressed in healthy renal tissue but is expressed in most clear cell renal cell carcinomas (CCRCC) through HIF-1α accumulation driven by hypoxia and inactivation of the VHL gene. CA9 expression can be detected in the tumour by immunohistochemistry (IHC), in blood and tissue by ELISA assay and RT-PCR.

CA9 immunohistochemistry on paragangliomas will improve the diagnosis of VHL-related disease, which is important for the surveillance and therapeutic management of paraganglioma patients, and in case of germline mutation, their family members.

2022年5月1日 · A combination of CA9 and GLUT1 immunostains is useful in screening lesions of patients with VHL spectrum manifestations, which may be targeted by the recently Food and Drug Administration–approved HIF-2a inhibitors.

The most significant connection between CA9 and a tumor suppressor has been established for the VHL gene. The loss of VHL function is the underlying genetic cause of RCCC, hemangiomas of the retina, and hemangioblastomas of the retina and central nervous system, and results in constitutive, hypoxia-independent expression of hypoxia-inducible ...

2024年4月22日 · 有研究提出，inhibin-α是SDHx或VHL遗传学改变所致副节瘤中极为敏感的标记；同一研究发现，CA-9是VHL综合征相关副节瘤的最特异性免疫组化标记。 图7.VHL综合征相关的嗜铬细胞瘤，病变细胞免疫组化表达CA-9。

CA9 immunohistochemistry on paragangliomas will improve the diagnosis of VHL-related disease, which is important for the surveillance and therapeutic management of paraganglioma patients,...