Article
H-RAS mutations are restricted to sporadic pheochromocytomas lacking specific clinical or pathological features: data from a multi-institutional series.
The Journal of clinical endocrinology and metabolism - 1 Jul 2014
Oudijk Lindsey, de Krijger Ronald R, Rapa Ida, Beuschlein Felix, de Cubas Aguirre A, Dei Tos Angelo P, Dinjens Winand N M, Korpershoek Esther, Mancikova Veronika, Mannelli Massimo, Papotti Mauro, Vatrano Simona, Robledo Mercedes, Volante Marco
Abstract excerpt
CONTEXT: Somatic or germline mutations in up to 15 disease-causative genes are detectable in up to 50% of patients with pheochromocytoma (PCC) and paraganglioma (PGL). Very recently, somatic H-RAS mutations were identified by exome sequencing in approximately 7% in sporadic PCCs and PGLs, in association with male sex and benign behavior. OBJECTIVE: To explore the prevalence of RAS mutations in a cohort of 271 PCC...
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