Heterogeneous genetic profiles in soft tissue myoepitheliomas
العنوان: | Heterogeneous genetic profiles in soft tissue myoepitheliomas |
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المؤلفون: | Hansén Nord, Karolin, Teixeira, Manuel R., Fletcher, Christopher D. M., Bizarro, Susana, Staaf, Johan, Domanski, Henryk, Vult von Steyern, Fredrik, Panagopoulos, Ioannis, Mandahl, Nils, Mertens, Fredrik |
المصدر: | Modern Pathology. 21(11):1311-1319 |
مصطلحات موضوعية: | parachordoma, myoepithelioma, mixed tumor, EWSR1, HMGA2, PLAG1, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology |
الوصف: | Myoepithelioma, mixed tumor and parachordoma are uncommon soft tissue tumors thought to represent morphological variants of a single tumor type. The genetic basis of these neoplasms is poorly understood. However, they morphologically resemble mixed tumor of the salivary glands (also known as pleomorphic adenoma), a tumor characterized by deregulated expression of PLAG1 or HMGA2. To evaluate a possible genetic relationship between these soft tissue and salivary gland tumors, PLAG1 expression levels and the genomic status of PLAG1 and HMGA2 were investigated in five soft tissue myoepitheliomas and one pleomorphic adenoma. In addition, all tumors were cytogenetically investigated and whole genome DNA copy number imbalances were studied in five of them. The genetic profiles were heterogeneous and the only aberration common to all soft tissue myoepitheliomas was a minimally deleted region of 3.55 Mb in chromosome band 19p13. Recurrent deletion of CDKN2A suggests that inactivation of this tumor suppressor gene is pathogenetically important in a subset. Furthermore, PLAG1 rearrangement was found in a soft tissue tumor from a patient previously treated for a salivary pleomorphic adenoma, indicating either metastasis of the salivary gland lesion or that some soft tissue tumors develop through the same mechanisms as their salivary gland counterparts. |
URL الوصول: | https://lup.lub.lu.se/record/1283884 http://www.ncbi.nlm.nih.gov/pubmed/18604193?dopt=Abstract http://dx.doi.org/10.1038/modpathol.2008.124 |
قاعدة البيانات: | SwePub |
تدمد: | 15300285 |
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DOI: | 10.1038/modpathol.2008.124 |