Histologic and Molecular Characterization of Solid Tumor

实体瘤的组织学和分子表征

• 批准号: 6558564
• 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/6558564
• 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 110 pediatric tumor pathology reports were issued. (2) A total of 70 pediatric tumor molecular pathology reports were issued. (3) Seven pediatric tumor pathology studies were published.

儿科实体肿瘤的准确诊断需要多种诊断技术的结合，包括逆转录聚合酶链反应（RT-PCR）。许多儿童实体瘤表现出基本的细胞遗传学异常，这与其发病机制有关。尤文氏肉瘤家族肿瘤（ESFT）和腺泡状横纹肌肉瘤（RMS）的特征在于一致的染色体易位，其导致基因融合和随后形成新的嵌合基因。这些分子标志物可以通过RT-PCR或荧光原位杂交（FISH）检测，不仅可以用于建立疑难病例的诊断，而且可以了解这些肿瘤的发病机制。最近，这些融合基因的产物已经成为NCI儿科肿瘤学分支（POB）新建立的方案中的疫苗疗法的靶标。本项目的目的是：（1）提供参与POB临床试验的儿科肿瘤患者组织标本的最新诊断技术水平（2）评价方案相关儿科肿瘤的分子病理学（是否存在特异性融合转录本）（3）评价分子标志物在儿科肉瘤诊断、分类和发病机制中的意义。一年来取得了以下成绩：（1）共出具小儿肿瘤病理报告110份。(2)共发布70份儿科肿瘤分子病理学报告。(3)发表了7项儿科肿瘤病理学研究。