Fehr André, Röser Kerstin, Belge Gazanfer, Löning Thomas, Bullerdiek Jörn
Center for Human Genetics, University of Bremen, Leobener Str. ZHG, D-28359 Bremen, Germany.
Cancer Genet Cytogenet. 2008 Jan 15;180(2):135-9. doi: 10.1016/j.cancergencyto.2007.10.007.
The translocation t(11;19)(q21;p13) has been described in mucoepidermoid carcinoma (MEC) and rarely in Warthin tumors (WT), both tumors of the salivary gland. The translocation creates a fusion gene in which exon 1 of CRTC1 is linked to exons 2-5 of MAML2. To verify the translocation in WT, we performed nested reverse transcriptase-polymerase chain reaction using RNA from 48 WTs. This revealed the t(11;19)(q21;p13) translocation and expression of the chimeric gene in two metaplastic WT samples, but in none of the remaining ordinary 46 WTs. On review, the two positive cases were classified as tumors highly suspect for MEC. Indeed, our experience and published observations of the t(11;19)(q21;p13) translocation in WT reveal that only a small subset of WTs are positive, and that these tumors are often classified as infarcted or metaplastic WT, known to overlap considerably with MEC on purely morphological grounds. We therefore conclude that the presence of the t(11;19)(q21;p13) rearrangement favors a diagnosis of MEC.
11号染色体与19号染色体易位(t(11;19)(q21;p13))已在黏液表皮样癌(MEC)中被描述,在沃辛瘤(WT)中则很少见,这两种都是涎腺肿瘤。这种易位产生了一个融合基因,其中CRTC1的第1外显子与MAML2的第2 - 5外显子相连。为了验证WT中的这种易位,我们使用来自48例WT的RNA进行了巢式逆转录 - 聚合酶链反应。结果显示,在两个化生型WT样本中发现了t(11;19)(q21;p13)易位及嵌合基因的表达,但在其余46例普通WT中均未发现。经复查,这两例阳性病例被归类为高度怀疑为MEC的肿瘤。事实上,我们对WT中t(11;19)(q21;p13)易位的经验及已发表的观察结果表明,只有一小部分WT呈阳性,并且这些肿瘤通常被归类为梗死性或化生型WT,已知在纯粹形态学基础上与MEC有相当大的重叠。因此,我们得出结论,t(11;19)(q21;p13)重排的存在支持MEC的诊断。