ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2008) 16 S9.4

Genetics of chromaffin tumours

Anne-Paule Gimenez-Roqueplo1,2,3,4


1INSERM, Unit 772, Paris, France; 2Collège de France, Paris, France; 3Université Paris Descartes, Paris, France; 4APHP, Hôpital Européen G Pompidou, Département de Génétique, Paris, France.


Recently, clinical and fundamental research studies have dramatically changed the knowledge on the genetics of pheochromocytoma (PH). Previously, it was widely accepted that only 10% of the patients affected by a PH had a familial disease and that the malignant phenotype of a PH could not be diagnosed before the occurrence of the first metastasis. After the identification of the genes involved in the hereditary paraganglioma/pheochromocytoma syndrome (SDHD, SDHB, SDHC)1–3, it has been demonstrated that 25% to 30% of the patients have a hereditary PH due to a germline mutation on SDHB, SDHD, VHL, RET or NF1 genes3–4 and that the identification of a SDHB mutation is a high risk factor for malignancy and poor prognosis4–6. Those data have supported new recommendations for genetic counselling and genetic testing as well as for the management of the affected patients7–9. Moreover, fundamental research studies have contributed to the understanding of new molecular mechanisms involved in the PH tumorigenesis. In particular, it has been shown that SDHs genes are new mitochondrial tumour suppressive genes and that the succinate dehydrogenase inactivation induces an abnormal stimulation of the hypoxia-angiogenesis pathway10–11.

1. Baysal BE. J Med Genet 2002 39 617–622.

2. Favier J et al. Horm Res 2005 63 171–9.

3. Neumann HP et al. N Engl J Med 2002 346 1459–66.

4. Amar L et al. J Clin Oncol 2005 23 8812–8.

5. Gimenez-Roqueplo AP et al. Cancer Res 2003 63 5615–21.

6. Amar L et al. J Clin Endocrinol Metab 2007 92 (10) 3822–8.

7. Plouin PF & Gimenez-Roqueplo AP. Nat Clin Pract Endocrinol Metab 2006 2 60–61.

8. Gimenez-Roqueplo AP et al. Clin Endocrinol 2006 65 699–705.

9. Pacak et al. Nat Clin Pract Endocrinol Metab 2007 3 92–102.

10. Gimenez-Roqueplo AP et al. Am J Hum Genet 2001 69 1186–1197.

11. Gimenez-Roqueplo AP. Ann N Y Acad Sci 2006 1073 112–21.

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