Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients

Conclusions
We recommend prioritising testing for germline mutations in patients with HN-PGLs and T-PGLs, and for somatic mutations in those with PCC. Biochemical secretion and SDHB-immunohistochemistry should guide genetic screening in abdominal-PGLs. Paediatric and metastatic cases should not be excluded from somatic screening.

Source: Journal of Medical Genetics - September 22, 2015 Category: Genetics & Stem Cells Authors: Curras-Freixes, M., Inglada-Perez, L., Mancikova, V., Montero-Conde, C., Leton, R., Comino-Mendez, I., Apellaniz-Ruiz, M., Sanchez-Barroso, L., Aguirre Sanchez-Covisa, M., Alcazar, V., Aller, J., Alvarez-Escola, C., Andia-Melero, V. M., Azriel-Mira, S., C Tags: Editor's choice, Genetic screening / counselling, Epidemiology Cancer genetics Source Type: research