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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Cancer+Biol+Ther
2016 ; 17
(6
): 599-603
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English Wikipedia
Germline mutations in the VHL gene associated with 3 different renal lesions in a
Chinese von Hippel-Lindau disease family
#MMPMID27057652
Yuan P
; Sun Q
; Liang H
; Wang W
; Li L
; Wang Y
; Deng H
; Lai L
; Chen X
; Zhou X
Cancer Biol Ther
2016[Jun]; 17
(6
): 599-603
PMID27057652
show ga
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant inherited cancer
syndrome that is characterized by hemangioblastomas in the central nervous system
and retina, renal cell carcinoma and cysts, pancreatic tumors and cysts, and
pheochromocytoma. The underlying gene in this disease is the VHL tumor suppressor
gene. We characterized a family with 2 affected siblings. The brother and sister
displayed VHL type 2B and type 2A features, respectively. Renal lesions in the
brother exhibited 3 different phenotypes, including simple renal cysts,
multilocular cystic renal cell carcinoma and clear cell renal cell carcinoma. The
phenotypes of the 3 concurrent renal lesions were first reported in this study.
Mutation detection of the VHL gene revealed 2 recurrent mutations, namely
c.256C>T (p.P86S) and c.340 + 5G > C. The former was predicted to be deleterious
and to destabilize the hydrophobic core and lead to VHL dysfunction; however, the
latter was predicted to be a benign variant. Our findings provided new data for
the genotype-phenotype of VHL diseases and elucidated the pathogenic mechanism
with in silico analysis.