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Recurrent familial malignant carotid body tumour presenting with lymph node metastasis: case report, and review of diagnosis and management of familial carotid body tumours.

OBJECTIVE: We report the case of a recurrent familial malignant carotid body tumour presenting with metastasis to local ipsilateral lymph nodes; the rarity of both recurrence combined with nodal spread is emphasised in this article.

METHOD: We present a case report, and a review of the world literature concerning the diagnosis and management of carotid body tumours in the familial setting.

CASE REPORT: A woman with a family history of succinate dehydrogenase complex subunit B gene mutation presented with right vocal fold palsy. A causative carotid body tumour was excised. Fifteen years later, the patient developed a right-sided swelling in the jugulo-digastric region, together with shooting pains towards her right ear. Imaging revealed right posterior triangle lymphadenopathy. Fine needle aspiration cytology of the node was equivocal. Computed tomography of her neck revealed, in addition, a mass within the right side of the larynx. Excision biopsy of the lymph node demonstrated metastatic paraganglioma. A carotid angiogram revealed a right-sided carotid body tumour. This was embolised prior to neck exploration and excision of the carotid body tumour with en bloc resection of adjacent nodes. Histological analysis confirmed the presence of lymph nodes containing metastatic paraganglioma.

CONCLUSION: This case report demonstrates the need for extra vigilance to enable early disease detection in the familial setting of carotid body tumour, in order to reduce the surgical morbidity associated with disease progression. In addition, our report highlights the atypical aspects of presentation in the familial setting, together with the difficulty and lack of standardisation regarding monitoring of the disease.

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