Update of Pheochromocytoma Syndromes: Genetics, Biochemical Evaluation, and Imaging

Pheochromocytoma: an update on genetics and management.

Pheochromocytomas (PHEOs) are rare neoplasms that produce catecholamines and usually arise from the adrenal medulla and are considered to be an adrenal paraganglioma (PGL). Closely related tumors of extraadrenal sympathetic and parasympathetic paraganglia are classified as extraadrenal PGLs. Most PHEOs are sporadic, but a significant percentage (approximately 25%) may be found in patients with ...

Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.

Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerab...

Pheochromocytoma and Paraganglioma syndromes: going on 2010

An imaging evaluation of angiodysplasia syndromes.

Current imaging techniques such as magnetic resonance, magnetic resonance angiography, computer tomography, ultrasound, plain x-rays, and lymphangioscintigraphy have enhanced the ability to define blood and lymph vascular malformations in more precise pathophysiologic terms. Not only can these imaging modalities distinguish arterial anomalies from lymphatic and venous angiodysplasia, but they a...

15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma-paraganglioma syndromes characterized by germline SDHB and SDHD mutations.

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine neoplasms that derive from small paraganglionic tissues which are located from skull base to the pelvic floor. Genetic predisposition plays an important role in development of PPGLs. Since the discovery of first mutations in the succinate dehydrogenase D (SDHD) gene, which encodes the smallest subunit of mitochondrial complex I...