Genetic and immunohistochemical analysis in a case of pleuropulmonary blastoma with renal tumor and small bowel polyps

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

伴有肾肿瘤与小肠息肉的PPB的遗传病因仍有待阐明。对病变病灶中mTOR信号通路（mTOR signalling pathway）组分的激活现象的分析提示，该信号转导通路可能参与疾病的发病机制，且mTOR抑制剂雷帕霉素（rapamycin）或可用于PPB及其相关病变的治疗。本研究联合分子细胞遗传学与基因特异性突变筛查手段，对伴发小肠息肉的PPB的潜在遗传病因进行了探索。研究人员对索引病例的肾肿瘤、肺肿瘤及小肠息肉组织开展了免疫组织化学分析，以检测mTOR的激活状态。