Abstract：
:Endolymphatic sac tumor (ELST) is a low-grade adenocarcinoma of the temporal bone that is presumed to originate from the endolymphatic system. Although ELSTs are extremely rare in the general population, a significant number of studies have documented the occurrence of ELST among patients with von Hippel-Lindau (VHL) disease. Because of the rarity of the tumor, however, few cases of ELST have been analyzed for mutations of the VHL tumor suppressor gene. In this study, we reported a Japanese male patient with sporadic ELST, along with a molecular genetic analysis of the VHL gene. The light microscopic and immunohistochemical features and clinical presentations were typical of ELST. Sequencing studies of the tumor DNA disclosed a G to T substitution of nucleotide 564, which resulted in an amino acid substitution (Trp to Cys). This is the first report of the VHL gene mutation in a sporadic Japanese case of ELST.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Hamazaki S,Yoshida M,Yao M,Nagashima Y,Taguchi K,Nakashima H,Okada Sdoi
10.1053/hupa.2001.28961subject
Has Abstractpub_date
2001-11-01 00:00:00pages
1272-6issue
11eissn
0046-8177issn
1532-8392pii
S0046817701066886journal_volume
32pub_type
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