Histologic and Molecular Characterization of Solid Pedia

固体 Pedia 的组织学和分子表征

• 批准号: 6756956
• 负责人: MARIA TSOKOS
• 金额: --
• 依托单位: DIVISION OF CLINICAL SCIENCES - NCI
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6756956
• 关键词: clinical trials; cytogenetics; fluorescent in situ hybridization; fusion gene; genetic markers; human genetic material tag; human tissue; molecular oncology; neoplasm /cancer diagnosis; neoplasm /cancer genetics; patient oriented research; pediatric neoplasm /cancer; polymerase chain reaction; sarcoma

Accurate diagnosis of solid pediatric tumors requires a combination of diagnostic techniques including reverse transcription polymerase chain reaction (RT-PCR). Many pediatric solid tumors exhibit fundamental cytogenetic abnormalities that have implications in their pathogenesis. The Ewing's sarcoma family of tumors (ESFT) and alveolar rhabdomyosarcoma (RMS) are characterized by consistent chromosomal translocations which result in the fusion of genes and subsequent formation of novel chimeric genes. These molecular markers can be detected by RT-PCR or fluorescence in situ hybridization (FISH) and can be used not only to establish the diagnosis in difficult cases, but also to understand the pathogenesis of these tumors. Recently, the products of these fusion genes have become the target of vaccine therapies in newly established protocols in the Pediatric Oncology Branch (POB) at the NCI. The objective of this project is: (1) to provide state of the art diagnosis on tissue specimens from pediatric tumor patients participating in POB clinical trials (2) to evaluate the molecular pathology of protocol-related pediatric tumors (presence or absence of specific fusion transcripts) (3) to evaluate the significance of molecular markers in the diagnosis, classification and pathogenesis of pediatric sarcomas. The following accomplishments have been made in the last year: (1) A total of 120 pediatric tumor pathology reports were issued. (2) A total of 35 pediatric tumor molecular pathology reports were issued. (3) Six pediatric tumor pathology studies were published.

精确诊断固体小儿肿瘤需要诊断技术的组合，包括逆转录聚合酶链反应（RT-PCR）。许多儿科实体瘤表现出基本的细胞遗传学异常，对其发病机理具有影响。尤因的肉瘤家族（ESFT）和肺泡横纹肌肉瘤（RMS）的特征是一致的染色体易位，这些染色体易位导致基因融合并随后形成新型嵌合基因。可以通过RT-PCR或原位杂交（FISH）检测这些分子标记物，不仅可以用来在困难情况下建立诊断，还可以理解这些肿瘤的发病机理。最近，这些融合基因的产物已成为NCI小儿肿瘤学分支（POB）新建立方案中疫苗疗法的靶标。该项目的目的是：（1）在参加POB临床试验的小儿肿瘤患者的组织样本上提供最先进的诊断（2），以评估协议相关的儿科肿瘤的分子病理学（存在或不存在特定的融合转录物）（特定的特定融合物）（3）（3）以评估诊断和诊断的分类症的重要性。去年已经取得了以下成就：（1）总共发出了120个小儿肿瘤病理学报告。 （2）总共发出了35个小儿肿瘤分子病理学报告。 （3）六项小儿肿瘤病理学研究。