When should genetic testing be obtained in a patient with phaeochromocytoma or paraganglioma?
About 30% of phaeochromocytoma and paraganglioma patients harbour a germline mutation in one of the known susceptibility genes and in more than one-third of these patients there is no family history for these tumours. The genetic classification, risk assessment and specific management of the patients and at risk family members play an important role in preventive medicine. Distinct diagnostic or therapeutic approaches related to the genetic testing results are and will be even more relevant in the future for the detection of mutation carriers. In addition to a positive family history, other clinical features such as young age at time of manifestation, multifocal tumours and specific tumour location are highly associated with the presence of a germline mutation - genetic testing in these cases should be mandatory. Since several genes are involved in the genetics of phaeochromocytoma and paraganglioma, prioritizing which gene(s) to be tested first by using simple clinical information can reduce the efforts and costs of this analysis. The clinicians offering and performing the genetic testing should provide or make available adequate counselling as well as access to preventive and surveillance options to patients. Collaboration with referral centres and research groups in this field can help to coordinate the management of these patients.
Erlic
Zoran
Z
Department of Nephrology, Section for Preventive Medicine, University Medical Hospital, Freiburg, Germany.
Neumann
Hartmut P H
HP
D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics*; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D012307:Risk Factors; D013385:Succinate Dehydrogenase / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics
C491545:SDHD protein, human; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; C497446:VHL protein, human