Molecular Analysis of Astrocytoma Associated With Turcot Syndrome Type 1 : Case Report

概要

論文の詳細を見る
A 49-year-old man presented with a brain tumor and colon carcinoma. The patient had been treated under diagnoses of hereditary non-polyposis colorectal cancer syndrome and Muir-Torre syndrome. Magnetic resonance imaging revealed a mass lesion in the right frontal lobe with diffuse high intensity on T_2-weighted and fluid-attenuated inversion recovery images. A few small lesions were enhanced by gadolinium on the T_1-weighted images. Histological examination revealed the brain neoplasm was astrocytoma grade III according to the World Health Organization classification. Molecular genetic analysis detected microsalellite instability and p53 mutation only in the tumor tissue, indicating a failure of the deoxyribonucleic acid mismatch repair system. These results suggest that inactivation of mismatch repair system and p53 is closely associated with the tumorigenesis of this neoplasm. The final diagnosis was Turcot syndrome type 1.
日本脳神経外科学会の論文
2004-03-15