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黏液表皮样癌中的分子异质性:概念及实际意义

Molecular heterogeneity in mucoepidermoid carcinoma: conceptual and practical implications.

作者信息

Bell Diana, El-Naggar Adel K

机构信息

Department of Pathology, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA.

出版信息

Head Neck Pathol. 2013 Mar;7(1):23-7. doi: 10.1007/s12105-013-0432-5. Epub 2013 Mar 5.

Abstract

Mucoepidermoid carcinoma (MEC), the most common salivary gland malignancy of the upper aerodigestive tract and tracheobronchial tree, is also known for its considerable cellular heterogeneity including epidermoid, intermediate and mucin producing cells. Despite this structural and cellular heterogeneity, MEC is uniquely characterized by a specific translocation t(11; 19) (q12; p13), resulting in a fusion between the MECT1 and the MAML2 genes. Although the incidence of this fusion in MEC varies, it is generally accepted that more than 50 % of this entity manifest the MECT1-MAML2. Fusion-positive cases showed significantly better survival than fusion-negative cases, suggesting that MECT1-MAML2 represents a specific prognostic molecular marker in MEC. We contend that fusion in MEC represents a distinct mechanism in the development of this entity. In that context, fusion positive MEC, regardless of grade, manifest a more stable genome and better clinical behaviour, while fusion negative MEC represent a distinctly different pathway characterized by marked genomic instability and relatively aggressive tumors.

摘要

黏液表皮样癌(MEC)是上呼吸道消化道和气管支气管树最常见的涎腺恶性肿瘤,其以包括表皮样细胞、中间细胞和黏液产生细胞在内的显著细胞异质性而闻名。尽管存在这种结构和细胞异质性,但MEC的独特特征是特定的易位t(11; 19) (q12; p13),导致MECT1和MAML2基因融合。虽然这种融合在MEC中的发生率各不相同,但一般认为超过50%的该实体表现出MECT1-MAML2融合。融合阳性病例的生存率明显高于融合阴性病例,这表明MECT1-MAML2是MEC中一种特定的预后分子标志物。我们认为MEC中的融合代表了该实体发生发展的一种独特机制。在这种情况下,无论分级如何,融合阳性的MEC表现出更稳定的基因组和更好的临床行为,而融合阴性的MEC代表一种明显不同的途径,其特征是显著的基因组不稳定和相对侵袭性的肿瘤。

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