A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma |
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Authors: | Rich Thereasa A Jonasch Eric Matin Surena Waguespack Steven G Gombos Dan S Santarpia Libero Stolle Catherine Jimenez Camilo |
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Affiliation: | Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030-4009, USA. |
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Abstract: | Von Hippel Lindau disease is a common cause of apparently sporadic pheochromocytomas. Herein, we describe a 20-year-old man with an apparently sporadic pheochromocytoma associated with a novel, relatively conservative germline Gly104Val VHL gene mutation, which is localized within exon 1 of the VHL gene corresponding to the beta -domain of the VHL protein (pVHL). The nearly asymptomatic patient's father also carries the same mutation. Similar to other mutations localized in the same codon, the Gly104Val VHL mutation seems to have an attenuated disease phenotype. |
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