Et si c'était un phéochromocytome familial ? De la clinique à la génétique
(2013) Louvain médical — Vol. 132, n° 3, p. 121-125 (2013)
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- Abstract
- During the last decade, several new genes have been found to be involved in the pathogenesis of pheochromocytoma and paraganglioma, particularly genes encoding the subunits of succinate dehydrogenase (SDHx genes). Currently, 10 predisposing genes have been identified and the proportion of patients with pheochromocytoma or paraganglioma harbouring a mutation in one of these genes is about 20 to 30%. The identification of mutations in these predisposing genes is of interest, as well for the family (genetic counselling) as for the patient him/herself (for instance, SDHB mutations are associated with an increased risk of recurrence and malignity). Genetic screening is clearly indicated in case of early diagnosis (before 45 years old), positive family history, suspicion of a syndromic form, or extra-adrenal, multifocal or malignant presentation. Due to the loose genotype-phenotype correlation and, on the other hand, the prognostic implication of the identification of a mutation in one of the known predisposing genes, many experts recommend performing genetic screening in every patient diagnosed with pheochromocytoma. In the near future, immunohistochemistry of SDHx genes, search for somatic mutations within the tumour and identification of specific gene expression profiles (microarrays) are likely to play an increasing role in the diagnosis, management and follow-up of pheochromocytoma.
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Aydin, S., Evenepoel, L., Severino, F., Mendola, A., Vikkula, M., & Persu, A. (2013). Et si c’était un phéochromocytome familial ? De la clinique à la génétique. Louvain médical, 132(3), 121-125. https://hdl.handle.net/2078.5/191610 (Original work published 2013)