Key result
The rare N131K missense mutation in the VHL gene is associated with von Hippel-Lindau disease type 2 and suggests a correlation with susceptibility to carotid body paragangliomas.
Case Report (n=1)
This case report supports the association of the rare 393C>A (N131K) missense mutation in the VHL gene with VHL disease type 2 and suggests a correlation with susceptibility to extrarenal paragangliomas.
Should not change VHL management; hypothesis-generating for paraganglioma risk and requires validation.
The article describes paraganglioma case in woman with von Hippel-Lindau disease. She was found to be a carrier of a rare germline mutation in the VHL gene (393C>A; N131K). The patient developed large, untypical for von Hippel-Lindau disease, carotid body paraganglioma at the common carotid artery bifurcation. The carotid body paraganglioma coexisted with the haemangioblastoma situated intramedullary in region C5/C6. The haemangioblastoma reached the right-sided dorsal part of the spinal cord in section C5/C6. It produced radicular symptoms within C5/C6, followed by the later paresis of the right limbs. The haemangioblastoma was resected completely. Twelve months after the operation, the spinal symptoms receded and the carotid body paraganglioma still was asymptomatic. The current case of carotid body paraganglioma in patient with the 393C>A (N131K) missense mutation in the VHL gene, supports association of this specific mutation and VHL disease type 2, and suggests its correlation with susceptibility to paragangliomas.
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Majchrzak et al. (2011) conducted a case report in von Hippel-Lindau disease (n=1). N131K missense mutation in the VHL gene was evaluated on Clinical presentation and tumor development. The rare N131K missense mutation in the VHL gene is associated with von Hippel-Lindau disease type 2 and suggests a correlation with susceptibility to carotid body paragangliomas.
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