FRI366 “Carotid Body Tumor” Is A Misnomer For Head And Neck Paraganglioma

Abstract

Abstract Disclosure: S. Rabiei: None. V. Kantorovich: None. Introduction: Glomus tumors are often treated as benign, hormonally inactive tumors through simple surgical resection. In many cases, full endocrine work-up and post-resection surveillance are overlooked. Endocrine consultation is currently underutilized in patients with glomus tumors because features of paragangliomas (PGs) such as multiple tumors are not always clinically evident at the time of initial presentation. It is important to be aware that carotid body and glomus tumors should be considered a variant of head and neck paraganglioms (HNPGs) and endocrinology consultation should be requested early on to optimize patients’ outcome. Case Presentation: Patient is a 52-year-old female who presented with back pain and difficulty walking. Imaging obtained for back pain work-up revealed a 6.2 x 4.4 x 4.2 cm right paraspinal soft tissue mass at T9 level on MRI with local invasion and cortical destruction of the T9 vertebra and involvement of the spinal canal. She was also found to have a 0.2 cm solid pulmonary nodule within the right lower lobe on chest CT. The history was also significant for resection of a jugular glomus tumor 12 years prior at the age of 40. Pathology findings at the time were consistent with glomus tumor. She also reported history of glomus tumor in her sister. However, the patient did not undergo genetic study at the time of diagnosis of her primary tumor.The patient subsequently underwent T9 corpectomy. Pathology report revealed a 5-cm tumor with characteristic histologic appearance of PG with epithelioid foci growing in distinctive small nests (Zellballen pattern), separated by prominent fibrovascular stroma with moderate cellularity and with slightly elevated (approximately 5%) Ki-67. Genetic study revealed a carrier state for a pathogenic variant of SDHD (c.112C>T; p.Arg38*). Gallium-68 DOTATATE PET/CT demonstrated intense focal DOTATATE uptake at the site of previous left-sided jugular glomus tumor resection as well as small foci of uptake bilaterally in upper and mid neck. Intense DOTATATE avidity was also identified at T8, T9, and T10 levels. Serum metanephrine, catecholamine, and PTH levels were within normal range. Chromogranin A is pending at this time. Discussion: We presented a case of glomus tumor in a young patient with a positive family history for glomus tumor who did not receive genetic study upon initial diagnosis of her primary tumor. The patient presented 12 years later with metastatic thoracic PG. Considering high mortality and morbidity of PGs, it is recommended to request endocrinology consultation at the time of diagnosis of carotid body or glomus tumors to prevent negative effects of disease recurrence. Presentation: Friday, June 16, 2023