ESA-SRB-AOTA 2019
An unusual diagnosis to swallow (#576)
Background
Paragangliomas (PGLs) are uncommon neuroendocrine tumours arising from extra-adrenal autonomic ganglia1. Head and neck PGLs comprise the majority (up to 69%)2 and are typically parasympathetic. Fewer than 5% are secretory2.
Approximately 30% of PGLs are caused by hereditary mutations, with up to 56% of parasympathetic PGLs harbouring SDHD germline mutations3. Male to female ratio is equal among hereditary PGLs whereas sporadic tumours predominate in women (71%)4.
The carotid body, jugulotympanic paraganglia and ganglion nodosum are the most common parasympathetic sites of origin5. Occurrence in oral structures is extremely rare.
Case
A 46-year-old woman presented with a rapidly progressive left lateral tongue mass. Contrast CT revealed a 3.2x4.2cm lesion with patchy uptake and significant mass effect. MRI showed a well-defined solidly enhancing lesion in the genioglossus which encroached upon, but did not cross the midline.
She proceeded to core needle biopsy and histology confirmed PGL with classic zellballen arrangement and positive staining for chromogranin, synaptophysin and S100 on immunohistochemistry.
There were no convincing clinical symptoms or signs of catecholamine excess and biochemical assessment is outlined below (Fig. 1). There was no family history of pheochromocytoma, PGL or hereditary syndromes.
DOTATATE-PET revealed intense avidity at the site of the tongue lesion without synchronous disease. Genetic panel was negative. Given the PGL location and absence of secretory features, alpha blockade was not recommended. She underwent surgical resection of the lesion without complication (histology pending).
Discussion
Our case highlights an unusually located sporadic paraganglioma of the tongue, which was successfully surgically resected without perioperative blockade. Only five cases have previously been described. Whilst sporadic PGLs are more common, especially in females, it is of paramount importance to screen for hereditary syndromes. This is especially true in head and neck PGLs where more than half arise in the setting of a known genetic syndrome.
- Welander J, Söderkvist P, Gimm O. Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer. 2011 Dec 1;18(6):R253-76
- Erickson D, et al. Benign Paragangliomas: Clinical Presentation and Treatment Outcomes in 236 Patients. J Clin Endocrinol Metab. 2001 Nov;86(11):5210-6
- Dannenberg H, et al. Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. Clin Cancer Res. 2002 Jul;8(7):2061-6
- Boedeker CC, et al. Malignant head and neck paragangliomas in SDHB mutation carriers. Otolaryngol Head Neck Surg. 2007;137(1):126
- Duran Alvarez MA, Tavarez Rodriguez JJ, Robledo M. Paraganglioma of the tongue with SDHB gene mutation in a patient with Graves' disease. Clin Case Rep. 2019;7(4):726–730