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去分化软骨肉瘤中H-ras癌基因突变:聚合酶链反应-限制性片段长度多态性分析

H-ras oncogene mutation in dedifferentiated chondrosarcoma: polymerase chain reaction-restriction fragment length polymorphism analysis.

作者信息

Sakamoto A, Oda Y, Adachi T, Oshiro Y, Tamiya S, Tanaka K, Matsuda S, Iwamoto Y, Tsuneyoshi M

机构信息

Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

出版信息

Mod Pathol. 2001 Apr;14(4):343-9. doi: 10.1038/modpathol.3880313.

Abstract

Dedifferentiated chondrosarcomas, which are known for their poor prognosis, are characterized by conventional chondrosarcoma with high-grade anaplastic components. Activating mutations in ras genes are a common genetic abnormality in human malignancies. The presence of point mutations at codons 12 and 13 of the H-ras gene was studied in 20 formalin-fixed paraffin-embedded chondrosarcomas, comprising 11 cases of conventional chondrosarcoma (six Grade 1 cases and five Grade 2 cases) and nine cases of dedifferentiated chondrosarcoma, using polymerase chain reaction-restriction fragment length polymorphism and direct sequencing analysis. H-ras mutations were only seen in two out of the nine cases of dedifferentiated chondrosarcoma (2/9, 22%) and they were not seen in any of the cases of conventional chondrosarcoma (0/11, 0%). Dedifferentiated chondrosarcomas had a worse prognosis than conventional chondrosarcomas (P < .01); among the patients with dedifferentiated chondrosarcomas, those with H-ras mutation (n = 2) tended to have a worse prognosis than those without (n = 7), although the difference was not statistically significant (P = 0.068). Our results would seem to suggest that H-ras mutation may occur during the course of dedifferentiation and may also have some effect on malignant potential.

摘要

去分化软骨肉瘤预后较差,其特征为具有高级别间变成分的传统软骨肉瘤。Ras基因的激活突变是人类恶性肿瘤中常见的基因异常。采用聚合酶链反应-限制性片段长度多态性及直接测序分析,对20例福尔马林固定石蜡包埋的软骨肉瘤进行研究,其中包括11例传统软骨肉瘤(6例1级病例和5例2级病例)和9例去分化软骨肉瘤,检测H-ras基因第12和13密码子的点突变情况。H-ras突变仅在9例去分化软骨肉瘤中的2例中出现(2/9,22%),而在任何传统软骨肉瘤病例中均未发现(0/11,0%)。去分化软骨肉瘤的预后比传统软骨肉瘤差(P <.01);在去分化软骨肉瘤患者中,有H-ras突变的患者(n = 2)预后似乎比无突变的患者(n = 7)差,尽管差异无统计学意义(P = 0.068)。我们的结果似乎表明,H-ras突变可能在去分化过程中发生,并且可能对恶性潜能也有一定影响。

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