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Von Hippel-Lindau Disease and Pheochromocytoma-Reply

Hartmut P.H. Neumann, MD; Charis Eng, MD, PhD; Lois M. Mulligan, PhD
JAMA. 1996;275(11):840. doi:10.1001/jama.1996.03530350021026.
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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 11.2Prior 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


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