Pathology and Laboratory Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Am J Surg Pathol. 2010 Aug;34(8):1106-21. doi: 10.1097/PAS.0b013e3181de3021.
The MECT1/MAML2 translocation is identified in a large proportion of mucoepidermoid carcinomas (MEC) of the salivary gland and is an emerging favorable prognosticator. However, there are conflicting data on this translocation's specificity, restriction to low/intermediate MEC, and strength as a prognosticator. We present our experience with the MECT1/MAML2 translocation in a large cohort of MECs to address these issues. We analyzed 55 salivary MEC and 36 potential MEC mimics (24 Warthin tumors, 5 oncocytomas, 3 squamous cell carcinomas, 2 squamoid salivary duct carcinomas, 1 lymphoepithelial cyst, 1 Schneiderian carcinoma ex papilloma) for presence of the MECT1/MAML2 translocation by fluorescent in-situ hybridization (FISH) and real-time RT-PCR. Overall, MECT1/MAML2 translocation was present in 36/55 (66%) of MEC whereas all 36 non-MEC were negative for translocation. Low or intermediate-grade MEC had a higher frequency of translocation (75%) than high-grade MEC (46%) (P=0.039). Translocation positive cases had a better disease-specific survival (log rank P=0.026) although 2 patients still died of disease. Within high-grade MEC, MECT1/MAML2 positive tumors had lower rates of anaplasia (P=0.001), and mitotic counts (P=0.012). Thus, MECT1/MAML2 translocation is highly specific for MEC and imparts a better prognosis. However, it is frequent even within high-grade MEC and can be seen in lethal cases suggesting that translocation status should not supersede conventional parameters. There are 2 distinct subgroups within high-grade MEC, and the translocation negative tumors may actually be more appropriately categorized as another tumor type (such as adenosquamous carcinoma).
MECT1/MAML2 易位在很大比例的涎腺黏液表皮样癌(MEC)中被识别,并且是一种新兴的有利预后标志物。然而,关于这种易位的特异性、限制在低/中等级 MEC 以及作为预后标志物的强度,存在相互矛盾的数据。我们通过荧光原位杂交(FISH)和实时 RT-PCR 分析了 55 例涎腺 MEC 和 36 例潜在的 MEC 模拟物(24 例 Warthin 肿瘤、5 例嗜酸细胞瘤、3 例鳞状细胞癌、2 例鳞状涎管癌、1 例淋巴上皮囊肿、1 例 Schneiderian 癌),以确定 MECT1/MAML2 易位的存在。总的来说,MECT1/MAML2 易位存在于 36/55(66%)例 MEC 中,而所有 36 例非 MEC 均为易位阴性。低或中等级 MEC 的易位频率高于高等级 MEC(75%比 46%)(P=0.039)。易位阳性病例的疾病特异性生存率更好(对数秩 P=0.026),尽管有 2 例患者仍死于疾病。在高等级 MEC 中,MECT1/MAML2 阳性肿瘤的间变率较低(P=0.001),有丝分裂计数较低(P=0.012)。因此,MECT1/MAML2 易位对 MEC 高度特异,并带来更好的预后。然而,即使在高等级 MEC 中,易位也很常见,并且可以在致命病例中看到,这表明易位状态不应取代常规参数。在高等级 MEC 中有 2 个不同的亚组,易位阴性的肿瘤实际上可能更适合归类为另一种肿瘤类型(如腺鳞癌)。