Bell Diana, Luna Mario A, Weber Randal S, Kaye Frederic J, El-Naggar Adel K
Department of Pathology, The University of Texas M. D. Anderson Cancer Center, Houston, TX, USA.
Genes Chromosomes Cancer. 2008 Apr;47(4):309-14. doi: 10.1002/gcc.20534.
Translocations and gene fusions have an important early role in tumorigenesis. The t(11;19) translocation and its CRTC1/MAML2 fusion transcript have been identified in several examples of both Warthin's tumor and mucoepidermoid carcinoma and are believed to be associated with the development of a subset of these tumors. To determine whether Warthin's tumor and mucoepidermoid carcinoma are genetically related, we used reverse transcriptase-polymerase chain reaction and DNA sequencing to analyze microdissected components of three tumors consisting of Warthin's tumor and mucoepidermoid carcinoma. We also investigated a metastatic melanoma to Warthin's tumor and a Warthin's carcinoma of the parotid gland for comparison. The fusion transcript was identified in both Warthin's tumor and matching mucoepidermoid carcinoma components of all three tumors, in the Warthin's carcinoma, and in the Warthin's tumor component but not in the metastatic melanoma. The results provide evidence for a link between the t(11;19) fusion gene and the development of a subset of Warthin's tumors with concurrent mucoepidermoid carcinoma and possible malignant transformation to Warthin's carcinoma. This article contains Supplementary Material available at http://www.interscience.wiley.com/jpages/1045-2257/suppmat.
染色体易位和基因融合在肿瘤发生的早期阶段起着重要作用。在多例沃辛瘤和黏液表皮样癌中均已发现t(11;19)染色体易位及其CRTC1/MAML2融合转录本,并且认为其与这些肿瘤的一部分亚群的发生有关。为了确定沃辛瘤和黏液表皮样癌是否存在遗传学关联,我们使用逆转录聚合酶链反应和DNA测序技术,对由沃辛瘤和黏液表皮样癌组成的3个肿瘤的显微切割成分进行分析。我们还研究了1例转移至沃辛瘤的黑色素瘤以及1例腮腺沃辛癌,以作比较。在所有3个肿瘤的沃辛瘤及其对应的黏液表皮样癌成分、沃辛癌以及沃辛瘤成分中均鉴定出融合转录本,但在转移的黑色素瘤中未发现。这些结果为t(11;19)融合基因与一部分伴有黏液表皮样癌的沃辛瘤的发生以及可能向沃辛癌的恶性转化之间存在关联提供了证据。本文包含可在http://www.interscience.wiley.com/jpages/1045-2257/suppmat获取的补充材料。