Pheochromocytoma in a 2.75‐year‐old‐girl with a germline von Hippel–Lindau mutation Q164R

• Published in: American journal of medical genetics. Part A 2010-07, Vol.152A (7), p.1752-1755
• Main Authors: Sovinz, Petra, Urban, Christian, Uhrig, Sabine, Stepan, Vinzenz, Lackner, Herwig, Schwinger, Wolfgang, Benesch, Martin, Moser, Andrea, Spuller, Ekkehard, Speicher, Michael R.
• Format: Article
• Language: English
• Subjects: Adrenal Gland Neoplasms - genetics; Adrenal Gland Neoplasms - pathology; Base Sequence; Child, Preschool; DNA Mutational Analysis; Female; genetic counseling; Germ-Line Mutation - genetics; Humans; Molecular Sequence Data; pheochromocytoma; Pheochromocytoma - genetics; Pheochromocytoma - pathology; VHL; Von Hippel-Lindau Tumor Suppressor Protein - genetics; von Hippel–Lindau disease
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.33407

Pheochromocytomas are rare tumors of the adrenal gland occurring sporadically or as part of familial cancer syndromes. Here we report on the case of a pheochromocytoma due to the germline missense mutation c.491A>G (Q164R) in exon 3 of the von Hippel–Lindau gene in a girl as young as 2.75 years. Extended analyses of her relatives showed that the mutation occurred de novo in the patient's father who was subsequently diagnosed with bilateral pheochromocytomas and a retinal angioma. To the best of our knowledge, this is the youngest patient presenting with pheochromocytoma so far described in the literature. The same VHL mutation has been reported in a patient who developed a pheochromocytoma at the age of 10 years; therefore, for known VHL Q164R mutation carriers, we suggest screening for pheochromocytoma beginning at 2 years of age. © 2010 Wiley‐Liss, Inc.