Prevalence and Prognostic Influence of Genomic Changes of EGFR Pathway Markers in Synovial Sarcoma
Prevalence and Prognostic Influence of Genomic Changes of EGFR Pathway Markers in Synovial Sarcoma
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DOI：
10.1002/jso.21852
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发表时间：
2011-06-01
影响因子：
2.5
通讯作者：
Yen, Chueh-Chuan
中科院分区：
文献类型：
--
作者：
Teng, Hao-Wei;Wang, Hsei-Wei;Yen, Chueh-Chuan
背景资料：本研究旨在探讨表皮生长因子受体（EGFR）及其下游效应因子在滑膜肉瘤（SS）中的表达及其对预后的影响。免疫组化检测EGFR和磷酸酶及张力蛋白同源物（PTEN）的表达，直接测序分析v-Ki-ras 2 Kirsten大鼠肉瘤病毒癌基因同源物（KRAS）外显子2、V-raf小鼠肉瘤病毒癌基因同源物B1（BRAF）外显子15、磷酸肌醇-3-激酶催化α多肽（PI 3 KCA）外显子9、20和PTEN外显子5-9的突变状态。EGFR过表达率为63.3%，PTEN缺失率为46.7%。序列分析未能证实KRAS和BRAF突变。其中2例（6.7%）在PI 3 KCA第9外显子中发现E545 A点突变，2例（6.7%）在PTEN第5外显子（E99 K、D106 N）、第7外显子第6内含子（AATA（G））和第9外显子（A359 T）中发现4个点突变。在躯干肿瘤的病例中，PTEN缺失明显更常见，EGFR过表达在35岁或35岁以上的患者中明显更普遍。《肿瘤外科杂志》2011; 103：773-781。(C)2011 Wiley-Liss，Inc.
Background: We aimed to study the prevalence and prognostic influence of epidermal growth factor receptor (EGFR) and its downstream effectors in synovial sarcoma (SS).Objectives and Methods: The tissue blocks from 30 patients were obtained. Expression of EGFR and phosphatase and tensin homolog (PTEN) were examined by immunohistochemistry, and mutation status of v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) exon 2, V-raf murine sarcoma viral oncogene homolog B1 (BRAF) exon 15, phosphoinositide-3-kinase, catalytic, alpha polypeptide (PI3KCA) exons 9, 20, and PTEN exons 5-9 were analyzed by direct sequencing.Results: EGFR overexpression and PTEN deletion were found in 63.3% and 46.7% of patients. Sequence analysis failed to demonstrate mutations of KRAS and BRAF. However, an E545A point mutation in exon 9 of PI3KCA was found in 2 of the 30 (6.7%) cases and 4 point mutations in exon 5 (E99K, D106N), intro 6 to exon 7 (AATA(G)), and exon 9 (A359T) of PTEN were found in 2 of the 30 (6.7%) cases. PTEN loss was significantly more frequent in cases of trunk tumors, and the overexpression of EGFR was significantly more prevalent in patients who were 35 or older.Conclusions: PTEN deletion was associated with poor survival. J. Surg. Oncol. 2011; 103:773-781. (C) 2011 Wiley-Liss, Inc.