Introduction to Paraganglioma Syndrome

These features are consistent with a bladder paraganglioma metastatic to the lung, in a background of a hereditary paraganglioma syndrome.

Background Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome.

Objective Familial paraganglioma syndrome type 4 is associated with mutations in the succinate dehydrogenase complex subunit B (SDHB) gene.

We describe the case of a man with Familial Paraganglioma Syndrome type 1 (FPGL) related to a novel mutation in SDHD gene treated with sunitinib.

Summary Familial paraganglioma syndrome type 1 (PGL-1) is maternally imprinted, caused by SDHD mutations on the paternally inherited allele, and presents with paragangliomas and pheochromocytomas that are usually benign.

Several autosomal dominant heritable syndromes, including Neurofibromatosis type 1 (NF-1), von Hippel-Lindau (VHL), Multiple Endocrine Neoplasia Type 2 (MEN 2), and Paraganglioma Syndromes Types 1–5, have an increased incidence of PCC, most of which modulate hypoxia pathways.

Pheochromocytoma and paraganglioma syndromes: genetics and management update.

Approximately 20% of endocrine neoplasms are due to inherited syndromes, which include multiple endocrine neoplasia syndromes, von Hippel-Lindau disease, the familial paraganglioma syndromes, neurofibromatosis type 1, tuberous sclerosis complex, and novel genetic disorders emerging along with recently described phenotypes.

With inherited cancer predisposition syndromes that can affect young children such as Li‐Fraumeni syndrome (LFS) and hereditary pheochromocytoma and paraganglioma syndrome (HPPS), genetic testing and subsequent surveillance in at‐risk children is the optimal intervention.