泌尿器科腫瘍学における分子研究の展望 : 遺伝子診断の実際と問題点

Abstract

癌遺伝子診断(A)の現状と問題点を明らかにするため, MEDLINEを用いてキーワードよりAに関する文献の検索を行った.使用したキーワードはploidy, oncogene, tumor suppressor gene, DNA chips, molecular detection等であった.ploidyでは1786件の文献が検索できた.oncogeneでは71964件, tumor suppressor geneでは1970件, DNA chipsでは1235件, molecular detectionでは27105件が検索可能であった.現在行われている主なA研究は大きく分けて, 癌のcharacterization, 癌予知検査, 癌の存在診断に分類できた

Carcinoma is a genetic disease. The malignant phenotype is acquired only after several mutations lead to derangement in a variety of gene products. Traditional methods in molecular biology generally work on a "one gene in one experiment" basis, which means that the throughput is very limited and the "whole picture" of gene function is hard to obtain. In recent years, new technology, called DNA microarray, has attracted interest. This technology promises to monitor the whole genome on a single chip so that researchers can have a better picture of the interactions among thousands of genes simultaneously. In cancers, the detection of minimal residual disease may have prognostic and therapeutic implications. Molecular tools are being used more frequently to enhance the detection of minimal residual disease in many types of cancer. Reverse-transcription polymerase chain reaction (RT-PCR) amplification of genes expressed by the tumor in a tissue-specific manner is the method with the highest diagnostic sensitivity. Quantification of tumor mRNA markers expressed by occult circulating tumor cells may be of prognostic value in a variety of neoplasms and disease stages. Medical professionals need to understand the basic concepts and principles of genetics; the role of genetics in diagnosing and managing different cancers; the ethical, legal and social issues surrounding genetic predisposition testing; and how to manage long-term care of patients at high risk for cancer.