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H-RAS Mutations Are Restricted to Sporadic Pheochromocytomas Lacking Specific Clinical or Pathological Features: Data From a Multi-Institutional Series

Lindsey Oudijk, Ronald R. de Krijger, Ida Rapa, Felix Beuschlein, Aguirre A. de Cubas, Angelo P. Dei Tos, Winand N. M. Dinjens, Esther Korpershoek, Veronika Mancikova, Massimo Mannelli, Mauro Papotti, Simona Vatrano (+2 others)
2014 Journal of Clinical Endocrinology and Metabolism  

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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 and PGL from a European registry and to compare the genotype with clinical and
more » ... ological characteristics of potential clinical interest. Setting and Design: Genetic screening for hotspot mutations in H-, N-, and K-RAS genes was performed by means of Sanger sequencing or pyrosequencing methods on tumor DNA in a series of patients with (n ϭ 107) or without (n ϭ 164) germline or somatic PCC/PGL-related gene mutations. Results: Overall, H-RAS mutations were detected in 5.2% of cases (14/271), which were confined to sporadic PCCs resulting in a prevalence of 10% (14/140) in this cohort. In contrast, no mutations were found in PCC with PCC/PGL-related gene mutations (0/76) or in PGL (0/55) harboring or not mutations in PCC/PGL susceptibility genes. In this large series, H-RAS mutations in PCCs lacked any significant correlation with pathological or basic clinical endpoints. Conclusions: Somatic H-RAS mutations are restricted to a relevant proportion of sporadic PCC. These findings provide the basis to study potential H-RAS-dependent correlations with long-term outcome data. (J Clin Endocrinol Metab 99: E1376 -E1380, 2014)
doi:10.1210/jc.2013-3879 pmid:24684458 fatcat:2nind6caknb2bdgq5ofupz6goy
Citation

Lindsey Oudijk, Ronald R. de Krijger, Ida Rapa, Felix Beuschlein, Aguirre A. de Cubas, Angelo P. Dei Tos, Winand N. M. Dinjens, Esther Korpershoek, Veronika Mancikova, Massimo Mannelli, Mauro Papotti, Simona Vatrano, Mercedes Robledo, Marco Volante. "H-RAS Mutations Are Restricted to Sporadic Pheochromocytomas Lacking Specific Clinical or Pathological Features: Data From a Multi-Institutional Series." Journal of Clinical Endocrinology and Metabolism 99.7 (2014) E1376-E1380