Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Sovinz, P; Urban, C; Uhrig, S; Stepan, V; Lackner, H; Schwinger, W; Benesch, M; Moser, A; Spuller, E; Speicher, MR.
Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.
Am J Med Genet A. 2010; 152A(7): 1752-1755.
Doi: 10.1002/ajmg.a.33407
(- Case Report)
Web of Science
PubMed
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- Führende Autor*innen der Med Uni Graz
- Ritter-Sovinz Petra
- Speicher Michael
- Co-Autor*innen der Med Uni Graz
- Benesch Martin
- Lackner Herwig
- Nebl Andrea Maria
- Schwinger Wolfgang
- Spuller Ekkehard
- Stepan Vinzenz
- Uhrig Sabine
- Urban Ernst-Christian
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- Abstract:
- 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.
(c) 2010 Wiley-Liss, Inc. - Find related publications in this database (using NLM MeSH Indexing)
- Adrenal Gland Neoplasms - genetics Adrenal Gland Neoplasms - pathology
- Base Sequence -
- Child, Preschool -
- DNA Mutational Analysis -
- Female -
- Germ-Line Mutation - genetics
- Humans -
- Molecular Sequence Data -
- Pheochromocytoma - genetics Pheochromocytoma - pathology
- Von Hippel-Lindau Tumor Suppressor Protein - genetics
- Find related publications in this database (Keywords)
- von Hippel-Lindau disease
- VHL
- pheochromocytoma
- genetic counseling