Von Hippel-Lindau Disease and Pheochromocytoma-Reply

In Reply. —The findings of Drs Walther and Linehan are consistent with the findings in our article. These authors also call attention to another entity, namely, pheochromocytoma-only families. These families are different from the two reported in our article since both of our families have well-documented C-cell tumors, the hallmark of MEN-II. We suspect that the majority of pheochromocytoma-only families will turn out to have VHL mutations¹ and those without might be due to the as yet unidentified PGL locus on the long arm of chromosome 11.²

Prior to the observations made by Walther and Linehan and those in the cited French study,³ we reported a high incidence of VHL in patients with symptomatic pheochromocytoma and documented that 38% of VHL patients identified in our series had only pheochromocytoma even after intensive investigation.⁴