There is no cure for metastatic pheochromocytoma or metastatic paraganglioma (PPGL). The first step in the management of metastatic PPGL is to assess the rate of tumor progression and, once…
Multiple endocrine neoplasia type 2B (MEN2B) is an autosomal dominant disorder with age-related penetrance, and it represents approximately 5% of all MEN2 cases. MEN2B is characterized by medullary thyroid carcinoma…
Catecholamine-secreting tumors (pheochromocytoma and paraganglioma [PPGL]) can be found in the midline from the inner ear to the scrotum. However, most (≈85%) are located in the adrenal glands and 95%…
Paragangliomas (PGLs) arise from paraganglia in the parasympathetic and sympathetic chains, which track along large blood vessels. PGLs can be found from the skull base and inner ear to the…
As pheochromocytomas enlarge, they develop areas of hemorrhagic necrosis. Most pheochromocytomas >4 cm in diameter have some cystic component that is evident on computed cross-sectional imaging. Some pheochromocytomas become progressively…
Pheochromocytoma and paraganglioma (PPGL) are associated with a genetic predisposition in at least 40% of patients and likely 100% when presenting with bilateral or multifocal PPGL. Most patients with bilateral…
Pheochromocytoma and paraganglioma (PPGL) are associated with a genetic predisposition in at least 40% of patients. Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome that manifests by the retinal,…
Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant disorder caused by the mutations in the rearranged during transfection (RET) protein. Patients with MEN2A present with medullary thyroid carcinoma,…
The treatment of choice for pheochromocytoma is complete surgical resection. The success of surgery depends on the experience and expertise of a multidisciplinary team that includes an endocrinologist, endocrine surgeon,…
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by mutations in the NF1 gene located on chromosome 17q11.2. Approximately 50% of patients with NF1 present with de novo…
