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EGFR alterations and EML4-ALK rearrangement in primary adenocarcinoma of the urinary bladder.

膀胱原发性腺癌中的EGFR基因改变及EML4-ALK基因重排

Alexander RE,Montironi R,Lopez-Beltran A,Williamson SR,Wang M,Post KM,Sen JD,Arnold AK,Zhang S,Wang X,Koch MO,Hahn NM,Masterson TA,Maclennan GT,Davidson DD,Compérat E,Cheng L

Abstract

The identification of mutations in epidermal growth factor receptor (EGFR) and translocations involving anaplastic lymphoma kinase (ALK) in lung adenocarcinoma has drastically changed understanding of the disease and led to the development of targeted therapies. Adenocarcinoma of the urinary bladder is rare and poorly understood at the molecular level. We undertook this study to determine whether EGFR mutations, increases in EGFR copy number, or ALK translocations are present in these tumors. Twenty-eight cases of primary bladder adenocarcinoma were analyzed. For EGFR mutational analysis, PCR-amplified products were analyzed on the Q24 Pyrosequencer with Qiagen EGFR Pyro Kits. All cases were analyzed via fluorescence in situ hybridization (FISH) using Vysis ALK Break Apart FISH Probes for detection of ALK chromosomal translocation and Vysis Dual Color Probes to assess for increased gene copy number of EGFR. None of the 28 cases examined showed mutational events in EGFR or ALK rearrangements. EGFR polysomy was seen in 10 out of 28 (36%) cases. No correlation with EGFR polysomy was seen in the tumors with respect to age, histologic subtypes, pathologic stage, or lymph node metastasis. In summary, EGFR mutations and ALK rearrangements do not appear to be involved in the development of primary adenocarcinoma of the urinary bladder. A subgroup of cases (36%), however, demonstrated increased gene copy number of EGFR by FISH.

摘要

肺腺癌中表皮生长因子受体(EGFR)基因突变和间变性淋巴瘤激酶(ALK)基因相关易位的发现大大改变了对于该肿瘤的认识,并引起了靶向治疗的发展。膀胱腺癌罕见,且在分子水平上知之甚少。我们进行此项研究,确定这类肿瘤中是否有EGFR基因的突变、EGFR基因拷贝数的增多、及ALK的易位。28例原发性膀胱腺癌被纳入此项研究。在EGFR基因突变的研究中,使用Qiagen公司EGFR Pyro试剂盒Q24焦磷酸测序和分析PCR扩张产物。所有病例均用FISH的方法检测ALK易位及EGFR拷贝数的改变,对ALK易位使用的是Vysis ALK分离探针,对EGFR基因拷贝数的研究使用的是Vysis双标探针。28例病例中没有一例检测出EGFR的突变和ALK基因的易位。28例中10例(36%)检测出EGFR基因的多倍体,但是其与患者的年龄、组织学类型、病理分期、及淋巴结转移等均没有相关性。总之,在膀胱原发性腺癌中没有表现出EGFR基因的突变和ALK基因的重排,但使用FISH的方法,部分病例(36%)有EGFR基因拷贝数的增加。

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