Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18F‐FDOPA PET/CT study

Abstract

Background

¹⁸F‐FDOPA PET/CT was proved to be a highly sensitive imaging method for detecting head and neck paraganglioma (HNPGL). The primary aim of the study was to evaluate the relationship between tumor characteristics and the SDHx‐mutational status in a large series of patients with HNPGL evaluated by ¹⁸F‐FDOPA PET/CT.

Methods

A total of 104 patients with HNPGL (65 sporadic/39 SDHx‐mutated) were included.

Results

In comparison to SDHB/SDC/SDHx‐negative cases, patients with SDHD were younger at diagnosis and had a higher rate of multifocal, vagal, and carotid paraganglioma. In patients with SDHD, vagal paraganglia represented the primary site of tumor origin. Multicentric involvement of the vagus nerve alone or in association with other locations was found to be a typical feature of SDHD cases compared to other cases (odds ratio = 59.4).

Conclusion

The present study shows that tumor multifocality within the vagus nerve is a phenotypic marker of SDHD mutation. This information is essential in the choice of the therapeutic strategy.

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