Head and Neck Paragangliomas in Von Hippel-Lindau Disease and ...

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hemangioblastomas in the aunt and a pheochromocytoma in a cousin whereas the mother had no abnormalities at all. Case 2 An asymptomatic 29-year old man was offered VHL-specific clinical surveillance due to a family history of known VHL and genetic testing which revealed carriership for the family-specific VHL mutation. MRI of the brain showed surprisingly a pituitary tumor. Further work up showed hyperprolactinemia and thus biochemical evidence for a prolactinoma. He was treated with bromocriptine for five years. At age 34, he reported a painful swelling on his left neck where a mass was palpable. CT disclosed a left carotid body tumor which was resected. At age 41, multiple pancreatic cysts and a left kidney cancer were detected which was resected and showed histologically a clear cell carcinoma. The father and two brothers have been treated for multiple retinal, cerebellar and spinal cord hemangioblastomas. Molecular genetic testing of the patient detected the family- specific VHL mutation p.Leu135X. Case 3 A 23-year old female was initially diagnosed with hypertension and elevated platelets. Because of the young age and hypertension, 24-hour urine catecholamines were measured and found to be elevated. Abdominal CT scan disclosed bilateral adrenal pheochromocytomas, confirmed by 123-iodine-MIBG scintigraphy. The MIBG scan, however, did not only show uptake in the adrenal glands, but also in the right neck area. Subsequently, an MRI of the neck disclosed a 2.5 cm carotid body tumor. The tumor was resected and histologically confirmed. The family history was negative for tumors of the VHL spectrum. Genetic testing revealed a germline mutation of the VHL gene p.Phe119Leu. Case 4 A 23-year old asymptomatic female presented with a palpable mass on the left side of the neck during a routine check-up for her VHL p.Arg64Pro family-specific mutation, already previously identified in this patient’s family. No other clinical manifestations had been detected until then. Somatostatin 10
eceptor scintigraphy revealed a hotspot near the left carotid artery, indicating a paraganglioma. No hypertension or increase in catecholamines was observed. The removed 2.5 cm tumor was histopathologically a paraganglioma. At age 33, there was no recurrence, nor did the patient have other tumors. Interestingly, the VHL disease had a heterogeneous presentation in the family, with bilateral pheochromocytomas and clear cell renal carcinoma as the initial presentation in the father. In addition, the patient´s son underwent a unilateral adrenalectomy for pheochromocytoma at age of 7. Case 5 A 37-year old female noticed a mass at the left side of her neck. MRI disclosed a 3 cm carotid body tumor. The mass was removed, and histopathology revealed a paraganglioma. At age 50, the patient was operated for a left adrenal pheochromocytoma. Clinical screening for VHL showed asymptomatic retinal and spinal hemangioblastomas. Her mother suffered from blindness of one eye potentially due to retinal angiomatosis and was operated for a left adrenal pheochromocytoma. Her uncle died due to renal cell carcinoma and had spinal hemangioblastomas. Molecular genetic analysis revealed the mutation VHL p.Arg107His. All her three sons are also carriers, one of whom was operated for a right adrenal pheochromocytoma at age 24 and a left adrenal pheochromocytoma at age 32. Screening of the 27-year old son revealed asymptomatic retinal and spinal hemangioblastomas. Case 6 A 42-year old male with a history of thyroidectomy for medullary thyroid carcinoma and removal of an adrenal cortical adenoma (not pheochromocytoma) presented with chronic headaches, tinnitus and progressive hearing loss. Diagnostic whole-body work-up revealed a 4 cm jugular paraganglioma with partial destruction of the labyrinth and without further tumor manifestations. The jugular tumor was treated with selective arterial embolization and stereotactic external-beam radiation. During follow-up, new metastases from the medullary thyroid carcinoma were diagnosed and the patient was transferred for systemic radio-peptide treatment with DOTATOC. Both malignancies showed distinct radiotracer uptake and the treatment resulted in partial response. Molecular genetic analysis revealed a p.Cys620Arg RET mutation. 11
Page 1 and 2: Head and Neck Paragangliomas in Von
Page 3 and 4: disclaims any responsibility or lia
Page 5 and 6: ABSTRACT Background Head and neck p
Page 7 and 8: MATERIAL AND METHODS Subjects The i
Page 9: Regarding VHL, the prevalence of HN
Page 13 and 14: In 1994, a 34-year old woman withou
Page 15 and 16: involved in a pheochromocytoma pres
Page 17 and 18: ACKNOWLEDGMENTS We thank the member
Page 19 and 20: 8. Neumann HP, Bausch B, McWhinney
Page 21 and 22: 19. Pawlowsky T BP 2000 Aktueller S
Page 23: Abbreviations: HNP, head and neck p

Head and Neck Paragangliomas in Von Hippel-Lindau Disease and ...

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