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Updated: Jan 29, 2026

The Drosophila Imaginal Disc Tumor Model: Visualization and Quantification of Gene Expression and Tumor Invasiveness Using Genetic Mosaics
Published on: October 6, 2016
Genetics of chromaffin tumors
1a Université Paris Descartes, Paris, F-75006, France and INSERM, U 970, Paris, F-75015, France and Collège de France, Paris, F-75005, France and Assistance Publique-Hôpitaux de Paris, Département de Génétique, Hôpital Européen Georges Pompidou, 20-40 Rue Leblanc, 75015 Paris, France. anne-paule.gimenez-roqueplo@egp.aphp.fr.
Abstract:
The old term of 'chromaffin tumors' encompasses both pheochromocytomas (PHs) and paragangliomas (PGLs). The identification of SDHx genes - new mitochondrial tumor-suppressor genes involved in hypoxia/angiogenesis pathways causing hereditary PGL/PH syndromes - has dramatically changed the genetics of chromaffin tumors. Between 25 and 30% of PGLs/PHs are inherited and are caused by a germline mutation in one of the six susceptibility genes (NF1, RET, VHL, SDHD, SDHB and SDHC). All patients with PGLs/PHs should, therefore, attend genetic counsultations. Genetic testing can be targeted according to family and clinical history. The identification of an inherited disease modifies the management and follow-up of index case and provides an opportunity for predictive genetic testing for other family members.
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