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

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one case with HNP and adrenal pheochromocytoma, lung metastases were found by biopsy (20). Most patients were diagnosed with HNP in their 3 rd to 5 th decades of life. Of note, 3 of the 16 VHL cases, 1 from France, 1 from Germany and 1 from America (23) share the identical mutation VHL p.Tyr98His which has been shown as a founder effect in the Blackforest with emigrants to Pennsylvania and Ohio (28). In summary, VHL is the dominant syndrome in Non-SDHx mutation-associated inherited HNP. Since the majority of our and the reported patients with HNP have clinical features suggesting VHL, MEN 2 or NF 1, our data provide evidence that genetic testing for VHL, RET and NF1 mutations are not necessary unless other syndromic component tumors occur in the patient or there is at least one family member with known VHL, MEN 2 or NF 1. If the data continue to hold, then NF 1 needs not to be considered in HNP presentations. In pursuing this exercise, it also became obvious that there exists an additional set of individuals who have at least one “red flag” likewise multiple HNPs, additional pheochromocytoma and/or a family history for paraganglial tumors denoting genetic contribution but are without any mutation in the known PGL/pheochromocytoma-predisposing genes. These will serve to guide the search for novel predisposition genes. 16
ACKNOWLEDGMENTS We thank the members of the French VHL Study Group and specially Prof. Françoise Archambeault- Mouveroux, Prof. Bernard Baranger, Prof. Jean-Paul Becquemin, Prof. Gérard Benoît, Prof. Xavier Bertagna, Prof. Jean-Luc Poncet, and Prof. Jacques Young. We acknowledge the exellent assistance of Aurelia Winter for the European Australian American HNP Registry. 17
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 and 10: Regarding VHL, the prevalence of HN
Page 11 and 12: eceptor scintigraphy revealed a hot
Page 13 and 14: In 1994, a 34-year old woman withou
Page 15: involved in a pheochromocytoma pres
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

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