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

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....

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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
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Summary: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.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.33407