Kaneko Y
Department of Laboratory Medicine, Saitama Cancer Center.
Rinsho Byori. 1990 Sep;38(9):1047-52.
Chromosome abnormalities found in pediatric solid tumors include deletions, translocations, homogeneously staining regions (hsr)/double minutes (dms), and ploidy abnormalities. The discovery of a 13q14 deletion found in lymphocytes of patients with retinoblastoma and developmental delay has led to the cloning of the retinoblastoma gene. Likewise the discovery of an 11p13 deletion in lymphocytes of patients with Wilms' tumor and aniridia has led to the cloning of the Wilms' tumor gene. Chromosome deletions found in tumor cells are considered to play a role on the homologous deletion of cancer suppressor genes. Recently, various translocations have been found mostly in soft tissue sarcomas; i.e. t(11;22) in Ewing's sarcoma, t(2;13) in alveolar rhabdomyosarcoma, t(3;8) in pleomorphic adenoma, t(3;12) in lipoma, t(12;16) in liposarcoma, t(12;14) in leiomyosarcoma, and t(X;18) in synovial sarcoma. These translocations provide important information on the difficult diagnosis of soft tissue sarcomas, and on the selection of chemotherapy protocol. Tumor cells in advanced stage neuroblastomas often show hsr/dms, in which N-myc amplification occurs. While near triploidy was regularly found in early-stage neuroblastomas, near-diploidy or near-tetraploidy was usually found in advanced stage tumors. Among various prognostic factors, N-myc copy numbers and tumor cell ploidies had the largest influence on the prognosis of neuroblastoma patients. Cytogenetic and molecular genetic analyses on tumor cells are becoming increasingly important for the diagnosis of pediatric solid tumors, and the prediction of the patients' prognosis.
小儿实体瘤中发现的染色体异常包括缺失、易位、均匀染色区(hsr)/双微体(dms)以及倍性异常。在视网膜母细胞瘤和发育迟缓患者的淋巴细胞中发现13q14缺失,从而导致了视网膜母细胞瘤基因的克隆。同样,在肾母细胞瘤和无虹膜患者的淋巴细胞中发现11p13缺失,进而导致了肾母细胞瘤基因的克隆。肿瘤细胞中发现的染色体缺失被认为在抑癌基因的同源缺失中起作用。最近,各种易位大多在软组织肉瘤中被发现;例如,尤因肉瘤中的t(11;22)、肺泡横纹肌肉瘤中的t(2;13)、多形性腺瘤中的t(3;8)、脂肪瘤中的t(3;12)、脂肪肉瘤中的t(12;16)、平滑肌肉瘤中的t(12;14)以及滑膜肉瘤中的t(X;18)。这些易位为软组织肉瘤的疑难诊断以及化疗方案的选择提供了重要信息。晚期神经母细胞瘤的肿瘤细胞常显示hsr/dms,其中发生N - myc扩增。早期神经母细胞瘤常发现近三倍体,而晚期肿瘤通常发现近二倍体或近四倍体。在各种预后因素中,N - myc拷贝数和肿瘤细胞倍性对神经母细胞瘤患者的预后影响最大。对肿瘤细胞进行细胞遗传学和分子遗传学分析对于小儿实体瘤的诊断以及患者预后的预测变得越来越重要。