Qualman Stephen J, Morotti Raffaella A
Division of Anatomic Pathology, Department of Laboratory Medicine, Children"s Hospital, 700 Children"s Drive, Columbus, OH 43205, USA.
Curr Oncol Rep. 2002 Mar;4(2):123-30. doi: 10.1007/s11912-002-0073-4.
Pediatric soft-tissue sarcomas are increasingly being defined by both histologic appearance and underlying chromosomal abnormalities to determine their biologic behavior. Most sarcomas of this type have specific chromosomal translocations that create unique fusion genes. Expression of such fusion genes may have diagnostic, prognostic, and surveillance implications for the patient. This review analyzes the fusion gene expressions seen with seven of the major types of pediatric soft-tissue tumors and their impact on biologic behavior. In nearly 50% of the malignancies discussed, the diagnostic, prognostic, and surveillance implications of their specific fusion gene expressions are already defined or becoming established (alveolar rhabdomyosarcoma, Ewing sarcoma/primitive neuroectodermal tumor, and synovial sarcoma). In the remainder of the tumors, these questions are rapidly being addressed. To facilitate future fusion gene studies, pediatric surgeons, pathologists, and oncologists need to work as a coordinated team to ensure proper tumor procurement. Large clinical cooperative trials involving biologic studies of pediatric soft-tissue sarcomas could facilitate advancement of knowledge in this area of pediatric oncology.
小儿软组织肉瘤越来越多地通过组织学表现和潜在的染色体异常来定义，以确定其生物学行为。大多数这类肉瘤具有特定的染色体易位，从而产生独特的融合基因。此类融合基因的表达可能对患者具有诊断、预后和监测意义。本综述分析了七种主要类型小儿软组织肿瘤中所见的融合基因表达及其对生物学行为的影响。在近50%所讨论的恶性肿瘤中，其特定融合基因表达的诊断、预后和监测意义已经明确或正在确立（肺泡横纹肌肉瘤、尤因肉瘤/原始神经外胚层肿瘤和滑膜肉瘤）。在其余肿瘤中，这些问题正在迅速得到解决。为促进未来的融合基因研究，小儿外科医生、病理学家和肿瘤学家需要作为一个协调团队开展工作，以确保肿瘤的妥善获取。涉及小儿软组织肉瘤生物学研究的大型临床合作试验有助于推动小儿肿瘤学这一领域知识的进步。
