Salivary gland carcinomas Book Section
| Author: | Dogan, S. |
| Editors: | Tafe, L. J.; Arcila, M. E. |
| Article/Chapter Title: | Salivary gland carcinomas |
| Abstract: | The majority of low-and intermediate-grade salivary gland carcinomas (SGC) are driven by recurrent genetic alterations, most commonly gene fusions. Among those that are present in the majority of cases and are the hallmark of disease are MECT1-MAML2 and CRTC3-MAML2 fusions in mucoepidermoid carcinoma and MYB and MYBL1 rearrangements in adenoid cystic carcinoma. Similarly, TGFBR3-PLAG1 rearrangement is specific for myoepithelial carcinoma but is present only in the minority of cases. Molecular markers that are of diagnostic value and present in the vast majority of cases include PRKD1 E710D mutation and PRKD1/3 rearragements in polymorphous adenocarcinoma/cribriform adenocarcinoma of salivary gland, EWSR1-ATF1 in clear cell carcinoma, and ETV6-NTRK3 in secretory carcinoma, which also provides a molecular target for Trk-inhibitors. In contrast, salivary duct carcinoma, a prototype of a high-grade salivary gland cancer, is characterized by a heterogeneous molecular background but a relatively high proportion of potentially targetable mutations. These include frequent ERBB2, PIK3CA, and HRAS alterations and less commonly gene fusions such as EML4-ALK, NCOA4-RET, and ETV6-NTRK3. © Springer Nature Switzerland AG 2020. |
| Keywords: | molecular marker; diagnostic value; gene fusion; salivary glands; clear cell carcinoma; genetic alterations; molecular targets; secretory carcinoma; high grades; adenoid cystic carcinomata |
| Book Title: | Genomic Medicine: A Practical Guide |
| ISBN: | 978-3-030-22921-4 |
| Publisher: | Springer |
| Publication Place: | Cham, Switzerland |
| Date Published: | 2020-01-01 |
| Start Page: | 183 |
| End Page: | 195 |
| Language: | English |
| DOI: | 10.1007/978-3-030-22922-1_12 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Book chapter: 12 -- Source: Scopus |
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