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下颌中央型黏液表皮样癌中存在 CRTC1/MAML2 融合转录本——诊断和组织发生学意义。

CRTC1/MAML2 fusion transcript in central mucoepidermoid carcinoma of mandible--diagnostic and histogenetic implications.

机构信息

Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

出版信息

Ann Diagn Pathol. 2010 Dec;14(6):396-401. doi: 10.1016/j.anndiagpath.2010.05.009.

Abstract

Intraosseous salivary gland carcinomas are extremely rare, comprising only 2% to 3% of all mucoepidermoid carcinomas (MECs) reported. The t(11;19) translocation and its CRTC1/MAML1 fusion transcript have been identified in MEC at different sites and are believed to be associated with the development of a subset of these tumors. However, the status of the fusion transcript has not been reported in intraosseous MEC. Here, we report 3 examples of central MEC of the mandible, including a case with a history of primary retromolar MEC. Reverse transcriptase-polymerase chain reaction and DNA sequencing analyses of the microdissected components of these tumors were used for the detection and verification of the fusion transcript. We identified, for the first time, the t(11;19) fusion gene transcript in central MEC, including in the previous primary retromolar MEC. No fusion transcript was detected in the second primary noncentral MEC or in another central MEC. The results indicate that central MEC can manifest the fusion transcript. This finding may have diagnostic and histogenetic roles in the future analysis of this entity.

摘要

骨内涎腺癌极为罕见,仅占所有黏液表皮样癌(MEC)的 2%至 3%。在不同部位的 MEC 中已发现 t(11;19)易位及其 CRTC1/MAML1 融合转录本,据信与这些肿瘤的一部分的发生有关。然而,尚未报道骨内 MEC 中的融合转录本的状态。在这里,我们报告了 3 例下颌中央 MEC,包括一例有原发性磨牙后 MEC 病史的病例。使用这些肿瘤的微切割成分的逆转录-聚合酶链反应和 DNA 测序分析来检测和验证融合转录本。我们首次在中央 MEC 中发现了 t(11;19)融合基因转录本,包括以前的原发性磨牙后 MEC。在第二个原发性非中央 MEC 或另一个中央 MEC 中未检测到融合转录本。结果表明,中央 MEC 可以表现出融合转录本。这一发现可能在未来对该实体的分析中具有诊断和组织发生学作用。

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