Low frequency mutation of the Ephrin receptor A3 gene in hepatocellular carcinoma

被引：19

作者：

Bae, H. J. ^{[1
]}

Song, J. H. ^{[1
]}

Noh, J. H. ^{[1
]}

Kim, J. K. ^{[1
]}

Jung, K. H. ^{[1
]}

Eun, J. W. ^{[1
]}

Xie, H. J. ^{[1
]}

Ryu, J. C. ^{[2
]}

Ahn, Y. M. ^{[3
]}

Kim, S. Y. ^{[1
]}

Lee, S. H. ^{[1
]}

Yoo, N. J. ^{[1
]}

Lee, J. Y. ^{[1
]}

Park, W. S. ^{[1
]}

Nam, S. W. ^{[1
]}

机构：

[1] Catholic Univ Korea, Coll Med, Dept Pathol, Microdissect Genom Res Ctr, Seoul 137701, South Korea

[2] Korea Inst Sci & Technol, Cellular & Mol Toxicol Lab, Seoul 130650, South Korea

[3] Kyung Hee Univ, Dept Kidney Syst, Coll Oriental Med, Seoul, South Korea

来源：

NEOPLASMA | 2009年 / 56卷 / 04期

关键词：

Eph receptor; EphA3; hepatocellular carcinoma; mutation; SOMATIC MUTATIONS; CANCER; CELLS; EXPRESSION; GENOMICS; MELANOMA; SCREEN; FAMILY;

D O I：

10.4149/neo_2009_04_331

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

EphA3 is a component of the Eph/ephrin tyrosine kinase system, which participates in vasculature development. This receptor/ligand system is associated with various signaling pathways related to cell growth and viability, cytoskeletal organization, cell migration, and anti-apoptosis. Accumulated evidence suggests that aberrant regulation of EphA3 and its genetic alterations are implicated in the development and progression of various cancers. However, despite a high incidence of EphA3 over-expression, no such investigation has been performed in hepatocellular carcinoma. Thus, we investigated genetic alterations of the EphA3 gene in 73 cases of hepatocellular carcinoma by single-strand conformational polymorphism and sequencing. One novel D219V missense mutation was found in the extracellular domain of EphA3, and two genetic alterations in the intracellular sterile-a-motif (SAM) domain of EphA3 appeared to be polymorphisms. Although the functional assessments of this mutant are incomplete, it is believed that this novel EphA3 mutation may contribute to the development of hepatocellular carcinoma.

引用

页码：331 / 334

页数：4

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