脊髄血管芽腫の外科治療と遺伝子診断

概要

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The authors examined the clinical features, neuroradiological findings, surgical results, and performed molecular analysis of the von Hippel-Lindau (VHL) tumor suppressor gene in 10 patients with 17 spinal hemangioblastomas. Change from pre-to postoperative functional status was graded according McCormick's classification. Germline or somatic mutations of the VHL gene were examined with single-strand conformation polymorphism (SSCP) analysis, direct sequencing. Assessment with McCormick's classification resulted in improvement in all cases except for no change in one case. Germline mutations of the VHL gene were detected in 3 out of 4 VHL cases, and somatic mutations were detected in 1 out of 4 sporadic hemangioblastomas. In conclusion, surgical treatment of spinal hemangioblastoma can be achieved at low levels of surgical morbidity. DNA analysis of the VHL gene is useful for genetic screening and decision making of treatment of spinal hemangioblastomas.
日本脊髄外科学会の論文
2001-11-30