Genetic and immunohistochemical analysis in a case of pleuropulmonary blastoma with renal tumor and small bowel polyps
ID:
状态:
发布时间April 2, 2010
, 更新时间 May 1, 2014
物种:
Homo sapiens
摘要:
The genetic cause for PPB in association with renal tumor and small bowel polyps remains to be identified. Activation of components of the mTOR signalling pathway in the disease lesions suggests that this signal transduction route may be involved in disease pathogenesis and that rapamycin, an inhibitor of mTOR, might be effective in the treatment of PPB and associated lesions. A combination of molecular cytogenetics and gene-specific mutation screens were performed to search for an underlying genetic cause for PPB in association with small bowel polyps. Immunohistochemical analysis to measure mTOR activation was performed on tissue from renal and lung tumor and small bowel polyps from the index case