Implementation of molecular diagnostics in salivary gland carcinomas. Is the application of a head-and-neck-tumor-panel useful?

Introduction Malignant salivary gland tumors represent a group of histopathological heterogeneous tumor entities. Little is known about the molecular pathogenesis or therapeutically relevant genetic alterations. In advance, molecular and genetic diagnostics are becoming increasingly important in order to determine targeted therapies for metastatic or recurrent situations. Due to the abundance of potentially detectable mutations, especially in the case of salivary gland tumors, the selection of a suitable sequencing panel seems difficult.

Methods The tumor tissue of 5 patients with salivary gland carcinomas in palliative situation was analyzed for their genetic profile. For this purpose, next-generation gene sequencing was performed by applying a panel covering 50 genetic mutations specially adapted for tumors of the head and neck region. Furthermore, currently published data was systematically reviewed.

Results In 2 of the 5 patients a genetic alteration could be identified. One case was an epithelial-myoepithelial carcinoma of the parotid gland. Here, an activating mutation of the HRAS gene was detected, which could be specifically targeted.

Discussion Precision oncology enables new therapeutic approaches in salivary gland tumors. Knowledge of the molecular landscape of tumor types is growing rapidly, but the question of their therapeutic relevance remains. Based on current data in the literature, the panel used at our department, which is designed for head and neck tumors in general, covers the most common mutations. However, especially in the case of salivary gland tumors, subtype-specific molecular profiles should be taken into consideration.

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Artikel online veröffentlicht:
10. Juni 2020