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Molecular Pathology of Salivary Gland Neoplasms: Diagnostic, Prognostic, and Predictive Perspective
M Hasan Toper1, Sulen Sarioglu
1Department of Molecular Pathology, Graduate School of Health Sciences, Dokuz Eylul University, Izmir, Turkey.
Abstract:
Salivary gland neoplasms are an uncommon and widely heterogeneous group of tumors. In recent years, there has been considerable progress in efforts to reveal the molecular landscape of these tumors, although it is still limited and appears to be only the tip of the iceberg. Genomic aberrations, especially specific chromosomal rearrangements including CRTC1-MAML2 and CRTC3-MAML2 in mucoepidermoid carcinoma, MYB-NFIB and MYBL1-NFIB fusions in adenoid cystic carcinoma, PLAG1 and HMGA2 alterations in pleomorphic adenoma and carcinoma ex pleomorphic adenoma, ETV6-NTRK3 and ETV6-RET in secretory carcinoma, EWSR1-ATF1 and EWSR1-CREM in clear cell carcinoma, provide new insights into the molecular pathogenesis of various salivary gland neoplasms and help to better classify them. These genetic aberrations primarily serve as diagnostic tools in salivary gland tumor diagnosis; however, some also have promise as prognostic or predictive biomarkers. This review summarizes the latest developments in molecular pathology of salivary gland tumors with a focus on distinctive molecular characteristics.
Insights
Recent advancements reveal key genomic alterations in salivary gland neoplasms, aiding in diagnosis and classification. These genetic changes offer insights into tumor development and potential biomarkers.
Area of Science:
- Oncology
- Molecular Pathology
- Genetics
Background:
- Salivary gland neoplasms are rare and diverse tumors.
- Understanding their molecular basis is crucial for accurate diagnosis and treatment.
- Current knowledge of the molecular landscape is expanding but remains incomplete.
Purpose of the Study:
- To review recent progress in the molecular pathology of salivary gland tumors.
- To highlight distinctive molecular characteristics and their diagnostic significance.
- To discuss the potential of genetic aberrations as biomarkers.
Main Methods:
- Literature review of recent studies on salivary gland tumor genetics.
- Focus on specific chromosomal rearrangements and gene fusions.
- Analysis of molecular alterations in various salivary gland neoplasm subtypes.
Main Results:
- Identified key genomic aberrations in common salivary gland tumors, including CRTC1-MAML2, MYB-NFIB, PLAG1, HMGA2, ETV6 fusions, and EWSR1 fusions.
- These genetic alterations provide insights into the molecular pathogenesis.
- Specific genetic aberrations are valuable diagnostic tools and potential prognostic/predictive biomarkers.
Conclusions:
- Genomic aberrations are pivotal in understanding salivary gland neoplasms.
- Molecular profiling enhances tumor classification and diagnosis.
- Further research into these genetic alterations may lead to improved therapeutic strategies.
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