Ladanyi M, Park C K, Lewis R, Jhanwar S C, Healey J H, Huvos A G
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York 10021.
Diagn Mol Pathol. 1993 Sep;2(3):163-7.
The MYC proto-oncogene has been shown to be overexpressed in several types of sarcomas, including some osteosarcomas. In most cases, the overexpression is due to gene amplification. The total number of osteosarcoma patients studied, however, remains too small to derive any conclusions regarding the true prevalence and the possible clinical significance of MYC gene amplification. To address the issue more thoroughly, we studied 27 specimens from 25 patients with high-grade osteosarcoma (16 primary, 11 metastatic; 11 adult, 14 pediatric) for MYC gene alterations by Southern blot analysis. Two of 27 specimens (7%) showed MYC gene amplification: a primary fibrohistiocytic osteosarcoma of the femur in a 37-year-old man showed threefold amplification, and a primary Paget's osteosarcoma of the tibia in a 60-year-old man showed fourfold amplification. None of the specimens tested showed MYC gene rearrangement (zero of 27) or activating point mutations at the PvuII site in MYC exon-1 (zero of 26). Hence, the MYC gene is amplified in a subset of osteosarcomas. The possible clinical or biological significance of MYC gene amplification in osteosarcoma may warrant further investigation.
MYC原癌基因已被证实在几种类型的肉瘤中过表达，包括一些骨肉瘤。在大多数情况下，这种过表达是由于基因扩增。然而，所研究的骨肉瘤患者总数仍然太少，无法就MYC基因扩增的真实患病率和可能的临床意义得出任何结论。为了更全面地解决这个问题，我们通过Southern印迹分析研究了25例高级别骨肉瘤患者（16例原发性，11例转移性；11例成人，14例儿童）的27个标本中的MYC基因改变。27个标本中有2个（7%）显示出MYC基因扩增：一名37岁男性的股骨原发性纤维组织细胞性骨肉瘤显示出三倍扩增，一名60岁男性的胫骨原发性佩吉特骨肉瘤显示出四倍扩增。所检测的标本中均未显示出MYC基因重排（27个标本中为0）或MYC外显子1中PvuII位点的激活点突变（26个标本中为0）。因此，MYC基因在一部分骨肉瘤中发生扩增。MYC基因扩增在骨肉瘤中可能的临床或生物学意义值得进一步研究。
