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…
The average size of a symptomatic catecholamine-secreting tumor is 4.5 cm. Some of the very large pheochromocytomas or paragangliomas (PPGLs) (e.g., >10 cm in diameter) are biochemically nonfunctioning. However, there…
All pheochromocytomas are biochemically undetectable when small—they require a sizable “factory” to become biochemically detectable. Thus publications that report that a laboratory test is 98% or 100% sensitive in detecting…
The prognosis of adrenocortical carcinoma (ACC) depends on several factors, including the European Network for the Study of Adrenal Tumours (ENSAT) stage, R0 (complete) surgical resection by an expert surgeon,…
The clinical presentation of pheochromocytoma has changed dramatically since Dr. Charlie Mayo successfully resected the first pheochromocytoma in North America in 1926. In the early days nearly all patients presented…
The prognosis of patients with adrenocortical carcinoma (ACC) depends on several factors, including the European Network for the Study of Adrenal Tumours (ENSAT) stage, R0 (complete) surgical resection by an…
