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

Regarding VHL, the prevalence of HNP in the national registries was 2/844 or 2/1,000 in Germany,
2/296 or 7/1,000 in Spain, and 6/886 or 7/1,000 in France, respectively. In the Netherlands, the VHL
registry comprises 58 cases, but none of the registrants had HNP (18). In total, prevalence of HNP
amongst VHL cases was 10/2085 or 5/1,000.
Regarding HNP, the European Australian American Head and Neck Paraganglioma Registry counts
513 registrants, the Rotterdam HNP registry 147 registrants and the French HNP registry 149
registrants in whom SDHx mutations have been excluded.
Regarding HNP prevalence in the European Australian American HNP Registry, which includes
Germany, Spain and Switzerland among other countries but not the Netherlands and France, was
5/513 or 10/1,000 registrants in whom SDHx mutations have been excluded. In the Netherlands and
France, the prevalence of hereditary non-SDHx HNP was 1/147 or 7/1,000 and 1/149 or 7/1,000,
respectively. In total, among all 809 registrants, prevalence was 9/1,000.
Case reports:
Case 1
In 1997, a 7-year old boy was diagnosed with a malignant extraadrenal pheochromocytoma of the left
retroperitoneum with regional lymph node metastases. These were treated with resection of the
primary tumor, lymphadenectomy and chemotherapy according to the protocol GPOH-MET 97 (19).
At age 9, there was a local recurrence, which was treated with resection and external radiotherapy of
20 Gy. At age 13, a right adrenal pheochromocytoma was resected. At age 15, a left carotid body
tumor was clinically detected and removed, but this recurred at age 16 and again resected. At age 17, a
pheochromocytoma at the renal pelvis was diagnosed on a routine MRI and resected. At age 18, he is
disease-free except for a lesion in the L1 vertebral body suggestive of hemangioma or
pheochromocytoma, a lesion first diagnosed in 2004 but unchanged over the last 5 years. The family
history was initially negative for VHL. Molecular genetic testing revealed the mutation VHL
p.Tyr98His. Predictive testing was offered to the patient’s family and revealed that the mother and
other relatives were positive. Clinical investigations of these relatives showed retinal
9