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- W2314094800 abstract "As genetic testing has improved and become more readily available, the identification of patients with clinically subtle forms of familial neoplasia syndromes has increased. Given the phenotypic variability of von Hippel-Lindau disease, the age-dependent penetrance, and the possibility of de novo mutations, a surgical pathologist may be the first physician to suspect an underlying syndromic association when faced with a routine specimen in the course of daily practice. Therefore, it is of great importance for surgical pathologists to be aware of specific histological features and clinicopathologic associations that may suggest the possibility of a familial neoplasia syndrome to allow for appropriate genetic investigations. This review highlights the distinct clinical and pathologic features of von Hippel-Lindau disease–associated neoplasia for the practicing surgical pathologist and includes central nervous system, kidney, pancreas, adrenal, inner/middle ear, and epididymal manifestations." @default.
- W2314094800 created "2016-06-24" @default.
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- W2314094800 date "2014-01-01" @default.
- W2314094800 modified "2023-09-27" @default.
- W2314094800 title "The Pathology of von Hippel-Lindau Disease" @default.
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- W2314094800 doi "https://doi.org/10.1097/pcr.0000000000000023" @default.
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