Paraganglioma With a Germline Mutation of the von Hippel Lindau (VHL) Gene: Report of a Case

DOI Web Site 15 References

Bibliographic Information

Other Title
  • von Hippel-Lindau(VHL)遺伝子の生殖細胞変異を伴った傍神経節腫の1例
  • 症例報告 von Hippel-Lindau(VHL)遺伝子の生殖細胞変異を伴った傍神経節腫の1例
  • ショウレイ ホウコク von Hippel Lindau VHL イデンシ ノ セイショク サイボウ ヘンイ オ トモナッタ ボウ シンケイセツ シュ ノ 1レイ

Search this article

Description

A 15-year-old girl was referred to our hospital with suspicion of pheochromocytoma or paraganglioma. Abdominal CT scans showed a retroperitoneal mass and multiple pancreatic cysts, and the mass was visualized on ^<123>I-metaiodobenzylguanidine scintigraphy. Under suspicion of the paraganglioma, we performed an open biopsy of the tumor and diagnosed it as paraganglioma. After the open biopsy of the tumor, we achieved complete tumor resection with left nephrectomy because of the encasement of the left renal vein by the tumor mass. Although she did not fulfill the criteria for von Hippel Lindau (VHL) disease, we considered that she was suffering from VHL disease. We analyzed the VHL gene aberrations and its expression status in the kidney and tumor specimen. A nonsense mutation as a germline mutation of the VHL gene locus was identified in the kidney specimen. Other mutations of the VHL gene locus were identified as somatic mutations in the tumor specimen. Moreover, the tumor specimen showed a loss of VHL gene expression, and the VHL gene was confirmed as a candidate gene in the tumor specimen. Accordingly, she might have developed VHL disease. It is important to analyze the VHL gene and observe carefully for paraganglioma patients who do not fulfill the criteria for VHL disease.

Journal

References(15)*help

See more

Related Projects

See more

Keywords

Details 詳細情報について

Report a problem

Back to top