IDENTIFICATION OF RECURRING CHROMOSOMAL ABERRATIONS IN HUMAN CANCERS AND DEVELOPM

人类癌症中反复出现的染色体畸变的识别和发展

• 批准号: 6290866
• 负责人: Thomas E. Ried
• 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/6290866
• 关键词: chromosome aberrations; comparative genomic hybridization; cytogenetics; histology; karyotype; method development; neoplasm /cancer diagnosis; neoplasm /cancer genetics

My laboratory has developed and applied molecular cytogenetic techniques, namely comparative genomic hybridization (CGH) and spectral karyotyping (SKY) to identify recurring chromosomal aberrations in solid tumors and hematological malignancies. CGH is a screening test for chromosomal imbalances in tumor genomes (Kallioniemi et al., 1992), and was used to analyze sequential changes in solid tumor progression after tissue microdissection of histologically defined lesions during the genesis of solid tumors. SKY allows color karyotyping of human chromosomes, therefore greatly facilitating the analysis of complex chromosomal aberrations in cancer cells (Schrock et al., 1996). SKY was applied to delineate the structural organization of chromosomal aberrations and to identify novel recurring translocations in carcinomas, sarcomas, and hematological malignancies. We were particularly interested whether:* we can identify a recurring and tumor specific pattern of chromosomal gains and losses* SKY analysis of hematological malignancies can contribute to a genetic classification of leukemias* balanced, reciprocal chromosomal translocations are significant for the genesis of solid tumors of epithelial origin * we can correlate patterns of chromosomal aberrations with tumor stage, tumor phenotype, additional pertinent genetic parameters, and the clinical course* this pattern of recurring and stage specific chromosomal aberrations bears significance in terms of diagnosis, differential diagnosis and prognostication of solid tumors when translated to cytological specimens using interphase cytogenetics - cancer, chromosome, - Neither Human Subjects nor Human Tissues

我的实验室开发并应用了分子细胞遗传学技术，即比较基因组杂交（CGH）和光谱核型分析（SKY）来识别实体瘤和血液恶性肿瘤中反复出现的染色体畸变。 CGH 是一种针对肿瘤基因组中染色体失衡的筛查试验（Kallioniemi 等人，1992），用于分析实体瘤发生过程中对组织学上定义的病变进行组织显微切割后实体瘤进展的连续变化。 SKY 允许对人类染色体进行彩色核型分析，因此极大地促进了癌细胞中复杂染色体畸变的分析（Schrock 等，1996）。 SKY 用于描绘染色体畸变的结构组织，并识别癌、肉瘤和血液恶性肿瘤中新出现的易位。我们特别感兴趣的是：*我们可以识别染色体获得和丢失的反复出现和肿瘤特异性模式*血液恶性肿瘤的SKY分析有助于白血病的遗传分类*平衡、相互的染色体易位对于上皮起源实体瘤的发生具有重要意义*我们可以将染色体畸变模式与肿瘤分期、肿瘤表型、其他 相关的遗传参数和临床病程* 当使用间期细胞遗传学转化为细胞学标本时，这种反复出现和阶段特异性染色体畸变的模式在实体瘤的诊断、鉴别诊断和预后方面具有重要意义 - 癌症、染色体 - 既不是人类受试者也不是人类组织