Phaeochromocytoma: State-of-the-art

Abstract

Phaeochromocytomas are catecholamine-secreting tumours that arise from chromaffin cells of the adrenal medulla and extra-adrenal sites. Extra-adrenal phaeochromocytomas are called paragangliomas. A diagnosis of phaeochromocytoma is suspected by typical paroxysmal symptoms, unusual or refractory hypertension, discovery of an adrenal incidentaloma or a family history of phaeochromocytoma or paraganglioma, possibly associated with other genetic syndromes (multiple endocrine neoplasia type 2 A or B, neurofibromatosis type 1 and von Hippel-Lindau disease). It can be confirmed by measurements of urinary or plasma fractionated catecholamines and metanephrines. The best diagnostic performances are achieved by metanephrines. Twenty-four hour urine fractionated metanephrines are still recommended as a screening test but some experts prefer plasma measurements in high-risk patients. Increased serum chromogranin-A levels, combined with high catecholamine or metanephrine in a patient with normal renal function is also a tool, virtually diagnostic of phaeochromocytoma. Recent studies have suggested that 25% of patients with phaeochromocytoma have germline mutations of several genes (NF1, VHL, SDHD, SDHB and RET). Thus, genetic testing should be carried out according to an algorithm of risk factors and specific characteristics. Once a biochemical diagnosis of phaeochromocytoma is made, a CT scan or MRI of the abdomen and pelvis should be performed first. If these investigations remain negative, the chest and neck should be explored. After anatomical imaging, functional imaging by 123I-MIBG should be considered. If the MIBG scan is negative, other imaging modalities have recently proven to be useful (PET, Octreoscan). After localization, the treatment of phaeochromocytoma is a surgical resection, which may be laparoscopic. Preoperative preparation with alpha- and beta-adrenergic blockade and/or calcium channel blockers associated with volume expansion is essential. Malignant phaeochromocytoma is rare and its treatment still unsatisfying. Phaeochromocytoma during pregnancy is also rare and its diagnosis easily missed because of its clinical resemblance to pre-eclampsia.

“Unclassical” Combination of Smell Dysfunction, Altered Abdominal Nociception and Human Hypertension Associated “Classical” Adrenal-Augmentation

“…Pain surfacing as acute pancreatitis-like syndrome in the presence of chaotic clinical findings similar to those found in our case may be the first manifestation of a pheochromocytoma (PCC) [10, 11], a catecholamine-secreting tumor, originating within the adrenal medullary chromaffin system [12]. However, the levels of catecholamines in 24-h urine collection, specifically metanephrines [13], were normal in our case.…”

Malignant pheochromocytomas and paragangliomas: a diagnostic challenge

“…In particular, extra-adrenal and small adrenal PCCs are more likely to result in false negatives on MIBG. Furthermore, adrenal PCCs containing minimal solid tissue due to extensive necrosis may predict a negative MIBG result [92][93][94][95].…”

Feocromocitoma: presentación como síndrome coronario agudo. Reporte de un caso

“…La mayoría son esporádicos, sin embargo, cada vez más frecuentemente se detectan en síndromes heredofamiliares como: neoplasia endocrina múltiple tipo II (MEN II), enfermedad de von Hippel-Lindau, neurofibromatosis tipo I y paragangliomas familiares asociados a mutaciones de la succinato deshidrogenasa mitocondrial (SDHB y SDHD). La evidencia ha demostrado que la regla tradicional de los 10 (10% bilaterales, 10% extra-adrenales, 10% familiares, 10% malignos) es inexacta, ya que los extra-adrenales pueden alcanzar a 20% y la enfermedad maligna es mucho más frecuente en feocromocitomas extra-adrenales y hasta 25% son heredofamiliares [3][4][5] .…”