腫瘍性遺伝疾患の遺伝子背景についての分子病理学的研究

通过分子病理学分析，研究了基因突变在人类癌症中的作用。以下是这些研究的重要发现。1)RAS基因突变与胃癌的发生无关。2)在尿路上皮癌中，3p、11p、9q和17p上的染色体丢失显著，提示相关抑癌基因失活。3)遗传性视网膜母细胞瘤中，短重复序列参与了缺失的断裂点。另一方面，不同的突变机制可能参与了散发性膀胱癌的发生发展。4)在某些条件下，福尔马林固定对DNA样品的影响也是显著的。

The effects of gene mutations in human cancers were investigated by the molecular pathological analyses. The followings are the important findings from these studies. 1) Ras gene mutation did not correlate with the development of stomach cancer. 2) In urothelial cancers, chromosomal losses on 3p, 11p, 9q and 17p were found to be significant, implicating the evidence of inactivation of related tumor suppressor genes. 3) In hereditary retinoblastoma, short repeat sequences were involved in the break point of deletions. On the other hand, different mutational mechanism could be involved in the development of sporadic bladder cancer. 4) The effects of formalin fixation on DNA samples were also found to be significant under certain conditions.