Histologic and Molecular Characterization of Solid Tumor

儿童实体肿瘤的准确诊断需要包括逆转录聚合酶链反应（RT-PCR）在内的多种诊断技术的结合。许多儿童实体瘤表现出基本的细胞遗传学异常，这对其发病机制有影响。尤文氏肉瘤家族肿瘤（ESFT）和肺泡横纹肌肉瘤（RMS）的特征是一致的染色体易位，导致基因融合和随后形成新的嵌合基因。这些分子标记可以通过RT-PCR或荧光原位杂交（FISH）检测到，不仅可以用于疑难病例的诊断，还可以用于了解这些肿瘤的发病机制。最近，这些融合基因的产物已成为NCI儿科肿瘤科（POB）新建立的方案中疫苗治疗的目标。本项目的目的是：(1)为参与POB临床试验的儿童肿瘤患者组织标本提供最先进的诊断；(2)评估与协议相关的儿童肿瘤的分子病理学（是否存在特异性融合转录本）；(3)评估分子标志物在儿童肉瘤的诊断、分类和发病机制中的意义。一年来取得以下成绩：(1)共发表小儿肿瘤病理报告110篇。(2)共发表小儿肿瘤分子病理报告70篇。(3)发表7篇小儿肿瘤病理研究。

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.