두개 기저부 척삭종의 세포유전학 및 분자생물학의 최신 지견

• 영문명: Update on the Cytogenetics and Molecular Genetics of Skull Base Chordoma
• 발행기관: 대한두개저학회
• 저자명: 안정용(Jung Yong Ahn) 심유식(Yu Shik Shim) 조준형(Jun Hyung Cho) 장종희(Jong Hee Chang) 이규성(Kyu Sung Lee)
• 간행물 정보: 『대한두개저학회지』제3권 제1호, 5~10쪽, 전체 6쪽
• 주제분류: 의약학 > 일반외과학
• 파일형태: PDF
• 발행일자: 2008.06.30

영문 초록

Chordomas are rare, low-to-intermediate grade malignant tumors arising from notochordal remnants in the midline skeletal axis. They account for <1% of central nervous system tumors and <5% of all primary malignant bone tumors. It is characterized by slow growth, local recurrence, and low metastasis rates. An increasing variety of techniques is now available to detect genetic alterations in chordomas, herein, we review the current knowledge of the genetic alterations in the skull base chordomas. The distribution of copy number changes is composed by two approaches; the low-resolution banding karyotyping and high-resolution whole genome CGH approach. The mapping of candidate genes in chordoma genesis awaits the application of high resolution targeted approaches. Chromosome 1p36.13 and 7q33 represent a candidate region for a chordoma gene. In gene expression study, many genes, such as HER2/neu, epidermal growth factor receptor, c-Met, platelet-derived growth factor receptor A and B, KIT receptors, E-cadherin, neural cell adhesion molecule, progesterone receptor B, estrogen receptor alpha, transforming growth factor alpha and basic fibroblast growth factor, fibronectin, and Cathepsin K, are differentially expressed and act a potential therapeutic target.

목차

Introduction

Histopathology and Immunohistochemistry

Cytogenetics, FISH and CGH

LOH and Microsatellite studies

Gene expression study

Conclusions

키워드

Chordoma Skull base Tumorigenesis Genetics Cytogenetics Loss of Heterozygosity Gene expression