Objective: To investigate the p21WAF1 /CIP1gene DNA sequence change and their relationship with the phenotype of human osteosarcoma. Methods: p21WAF1 /CIP1gene DNA of 36 osteosarcoma spec- imens was examined by using polymerase chain reaction-single strand conformation polymorphism (PCR- SSCP) method. The PCR products were sequenced directly. Results: In p21WAF1 /CIP1 gene exon3 of 36 cases of human osteosarcoma, the change of C→T in the p21WAF1 /CIP1gene CDNA sequence of position 609th occurred in 17 cases with the incidence being 44.4%. In 10 normal blood samples, DNA sequence analysis showed the change of C→T in the p21WAF1 /CIP1gene CDNA sequence of position 609th occurred in 8 cases with the incidence being 80%. Conclusion: The novel location of p21WAF1 /CIP1gene polymorphism of osteosarcoma, but not mutation was de?ned, and this location might provide the meaningful reference for the further research of p21WAF1/CIP1 gene.p2lWAF1/CIP1基因DNA序列分析及其与骨肉瘤表型的关系
目的:探讨转移性骨肿瘤引起病理性骨折的诊断、治疗与预防。方法:收集34例因各类转移性骨肿瘤引起病理性骨折患者的资料。其中,6例患者因肺癌、肝癌或乳腺癌引起全身多处骨转移和多器官转移,分别行胫骨结节骨牵引和肩关节贴胸位治疗;另28例患者行手术治疗,其中肺癌转移9例、乳腺癌转移6例、肾癌转移5例、甲状腺癌转移4例、肝癌转移2例、胰腺癌和前列腺癌转移各1例,分别行人工股骨头置换术、闭合复位、动力髋螺钉(dynamic hip screw,DHS)及股骨和肱骨髓内钉内固定和钢板内固定术。34例患者均获得随访。结果:6例未行手术治疗患者,因多器官转移等其他并发症于2个月至1年内死亡,但骨折部位表现出临床愈合、无疼痛,肢体关节活动良好。28例手术患者中,8例患者在随访期间死于多器官转移等其他并发症,其余患者经化疗、放疗及中西医结合治疗后至今存活,骨折处平均于术后3个月出现临床愈合,肢体功能恢复良好。结论:在诊断转移性肿瘤引起的病理性骨折时,应首先防止漏诊,明确转移肿瘤的来源;同时根据患者的年龄、受伤机制、影像学表现及病理检查结果进行综合判断。在处理转移性骨肿瘤的病理性骨折时,应以减轻患者痛苦、提高生活质量为主要目的。