包埋材料からの遺伝子診断 : 主として腫瘍診断への貢献(病理領域における新しい解析方法の導入)

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Recent advances in research on neoplastic diseases particularly as they relate to the pathogenesis of human neoplasm demonstrated that neoplasms are diseases of the genetic alterations. The neoplastic phenotype arises from a single cell of origin as a result of the accumulation of genetic mutations in two classes of cellular genes, proto-oncogenes and tumor suppressor genes, and other genes affecting neoplastic development. The molecular basis of genetic abnormality in neoplasm enables us to apply them in a useful adjunct to the diagnostic pathology by use of genetic markers. This paper describes the outline of the usefulness of genetic analysis in neoplastic diseases for diagnostic pathology from paraffin-embedded specimens as follows. 1. A useful guideline for the detection of genetic alterations from paraffin-embedded pathology specimens. 2. Some technical problems for the detection of genetic alterations by PCR and dye primer sequencing methods from paraffin-embedded pathology specimens. 3. Diagnostic significance of amplification of c-myc and point mutation of c-ras codon 61 genes for differential diagnosis of nevocellular nevus and malignant melanoma. 4. Gene amplification of matrix metalloproteinases in relation to the spreading mode of bronchiolo-alveolar carcinoma and acinar or papillary adenocarcinoma of the lung. 5. The detection of c-Ki-ras codon 12 point mutation in gastric epithelial tumors in Japanese. 6. The detection of c-Ki-ras codon 12 point mutation from pancreatic juce. A useful diagnostic approach for pancreatic carcinoma. 7. The detection of c-Ki-ras codon 12 point mutation from necrotic tissue. A useful adjunct to the diagnosis of pancreatic carcinoma. 8. A useful diagnostic approach for differentiating complete hydatidiform mole from partial hydatidiform mole by the detection of Kogan segment from a human Y-chromosome specific repeat sequence. 9. Diagnostic approach for differentiating metastatic lesion from double cancer using a method based on restriction fragment length polymorphism of the X-chromosome-linked phosphoglycerokinase gene and on random inactivation of the gene by methylation.
東京女子医科大学の論文
1996-05-25

包埋材料からの遺伝子診断 : 主として腫瘍診断への貢献(病理領域における新しい解析方法の導入)

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