Histologic and Molecular Characterization of Solid Pediatric Tumors

以下是我们最近发起或参与的主要翻译研究的例子，这些研究已经完成，并正在准备手稿：-我们研究了神经纤维瘤病患者良性和恶性神经鞘肿瘤中的巢蛋白表达1，发现其与恶性表型相关。我们还发现，在良性肿瘤的组织学非典型区域，巢蛋白的表达增加与PET摄取增加有关，这表明巢蛋白可能是肿瘤进展的标志。-我们评估了神经节苷脂GD2在大量儿童实体肿瘤中的表达，发现骨肉瘤和尤文氏肉瘤中高表达。我们的数据将有助于设计针对GD2在这些肿瘤中的临床试验。我们评估了NY-ESO在该年龄组的儿童滑膜肉瘤和其他实体瘤中的表达，这将导致NCI的一项新的临床试验。-我们发现缺乏SDHB表达的琥珀酸脱氢酶（SDH）B基因突变的c-kit阴性胃肠道间质瘤（GIST） EGFR高表达，但缺乏EGFR基因扩增或突变。这些数据表明，c-kit阴性（儿童）GIST可能是肿瘤缺氧导致EGFR翻译上调的另一个肿瘤例子。-我们合作开展一项研究，通过对一组蛋白质进行免疫组织化学染色和评估，寻求儿科脑桥胶质瘤的分子治疗靶点

The following are examples of recent translational studies which we have either initiated or played a major collaborative role and which have been completed and are at the stage of preparation of a manuscript : - We studied nestin expression in benign and malignant nerve sheath tumors from patients with neurofibromatosis 1 and found its correlation with a malignant phenotype. We also found increased expression of nestin in histologically atypical areas of otherwise benign tumors that correlate with increased PET uptake, suggesting that it may serve as a marker of tumor progression. - We evaluated expression of the ganglioside GD2 in large number of solid pediatric tumors and found high expression in osteosarcoma and Ewing sarcoma. Our data will help design a clinical trial targeting GD2 in these tumors. - We evaluated NY-ESO expression pediatric synovial sarcomas and other solid tumors in this age group, which will lead to a new clinical trial at the NCI. - We found that c-kit negative gastrointestinal stromal tumors (GIST) with mutation in the succinate dehydrogenase (SDH)B gene, which lack expression of SDHB, show high expression of EGFR, but lack EGFR gene amplification or mutation. These data suggest that c-kit negative (pediatric) GIST may be yet another tumor example of translational upregulation of EGFR by tumor hypoxia.- We collaborate on a study that seeks to identify molecular therapeutic targets in pediatric pontine gliomas, by performing immunohistochemical staining and evaluation of a panel of proteins