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.

Succinate dehydrogenase mutations in head and neck paragangliomas: A systematic review and meta‐analysis of individual patients' data

“…Among 9585 searched articles, 42 articles met our inclusion criteria 24–65 . The mean sample size was 93.42 (range 10–598).…”

Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

“…19 However, more extensive imaging data for patients with SDHD pathogenic variants are still needed. 6-[¹⁸F] fluoro-3,4-dihy droxyphenylalanine ([¹⁸F]-FDOPA)-PET-CT has also shown high sensitivity in the detection of SDHD HNPGLs (sensitivity approaching 100%) 20,21 and is a good alternative to SSTR PET-CT with ⁶⁸Garadiolabelled somato statin analogues if unavailable. 22 However, [¹⁸F]-FDOPA-PET-CT overlooks some sympathetic PPGLs (ie, outside the head and neck area).…”

“…Biochemically positive PPGLs can be present in the context of pathogenic variants and are mostly related to retroperitoneal PPGLs. These tumours should be resected before other surgical interventions due to the risk of a perioperative hypertensive crisis (see recommendation 21).…”