Genetic profile of second primary tumors and recurrences in head and neck squamous cell carcinomas

Genetic profile of second primary tumors and recurrences in head and neck squamous cell carcinomas
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DOI:
10.1002/hed.21824
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发表时间:
2012-06-01
影响因子:
2.9
通讯作者:
Hermsen, Mario
Hermsen, Mario
中科院分区:
医学2区
文献类型:
--
作者:
Franco Gutierrez, Virginia;Alvarez Marcos, Cesar;Hermsen, Mario

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背景 第二原发肿瘤和复发是头颈鳞状细胞癌患者的一个重要问题。本研究的目的是确定肿瘤样本中的遗传变化,以提高对肿瘤进展的了解。方法通过多重连接依赖性探针扩增(MLPA)分析36个原发肿瘤及其相应的21个第二原发肿瘤和15个复发肿瘤中37个基因的拷贝数变化。结果 CCND1 和 EMS1 扩增以及 BCL2L1 增益是原发肿瘤、第二原发肿瘤和复发样本中最常见的基因改变。 ERBB2 和 PTPN1 的增加与复发相关。结论 已发现每个群体的特定遗传谱。原发性肿瘤和第二原发性肿瘤之间的相似性以及原发性肿瘤和复发性肿瘤之间的不同性表明临床病理学标准并不总是准确地区分这些实体。基因分析可能有助于这些疑难病例的诊断和预后。 (c) 2011 Wiley periodicals, Inc. Head Neck,2011
Background Second primary tumors and recurrences are an important problem in patients with head and neck squamous cell carcinoma. The purpose of this study was to determine the genetic changes in tumor samples to improve knowledge of tumor progression. Methods Copy number changes of 37 genes were analyzed by multiplex ligation-dependent probe amplification (MLPA) in 36 primary tumors and their corresponding 21 second primary tumors and 15 recurrences. Results CCND1 and EMS1 amplifications and gain of BCL2L1 were the most common genetic alterations in the primary tumor, second primary tumor, and recurrence samples. Gains of ERBB2 and PTPN1 were associated with recurrences. Conclusion Specific genetic profiles for each group have been found. Similarities between primary tumor and second primary tumor and dissimilarity between primary tumor and recurrence suggest that clinicopathological criteria do not always accurately differentiate these entities. Genetic profiling may aid in the diagnosis and prognosis of these difficult cases. (c) 2011 Wiley Periodicals, Inc. Head Neck, 2011