Biochemical Diagnosis of Chromaffin Cell Tumors in Patients at High and Low Risk of Disease: Plasma versus Urinary Free or Deconjugated O-Methylated Catecholamine Metabolites

Abstract

Diagnosis of PPGLs using plasma or urinary free metabolites provides advantages of fewer false-positive results compared with commonly measured deconjugated metabolites. The plasma panel offers better diagnostic performance than either urinary panel for patients at high risk of disease and, with appropriate preanalytics, provides the test of choice. Measurements of methoxytyramine in urine show limited diagnostic utility compared with plasma.

Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging

“…‘Ethikkommission an der Technischen Universität Dresden’, ‘Ethikkommission bei der Medizinischen Fakultät der LMU München’, ‘Ethikkommission bei der Medizinischen Fakultät der Universität Würzburg’, ‘Ethikkommission der Universität zu Lübeck’) and all subjects provided written informed consent prior study inclusion. Enrolled subjects underwent biochemical and imaging testing as defined in the study protocol ( 21 ) and in accordance to more recently published international guidelines ( 2 ).…”

“…While biochemical testing was done in a centralized lab in Dresden, Germany ( 21 ), imaging was performed at the discretion of the individual centers, which was reported to involve CTs ( n = 75), MRI ( n = 27) and functional imaging ( n = 65) based on the indication and availability of the technique.…”

Pheochromocytoma and paraganglioma: clinical feature-based disease probability in relation to catecholamine biochemistry and reason for disease suspicion

“…A total of 2,291 patients were prospectively recruited into this observational cohort study under a multicenter clinical protocol (Prospective Monoamine-producing Tumor study -PMT) and according to standard-operating procedures (SOPs) available online (https://pmt-study.pressor.org) with further details outlined elsewhere (15) and in the supplemental methods. All patients enrolled into the study were recruited according to four study entry criteria: 1. signs and symptoms of presumed catecholamine excess; 2. incidental finding of an abdominal mass requiring further investigation for a PPGL; 3. screening due to previous history of PPGL; and 4. hereditary risk of PPGL associated with a mutation of a tumor susceptibility gene.…”

“…The objective of the present study was to identify clinical features of patients tested for PPGLs that might be used to better distinguish those with and without disease and whether such features might also relate to differences in tumoral catecholamine production. This objective was met through a prospective screening study of over 2,000 patients tested for PPGLs including 245 patients in whom disease was subsequently confirmed (15). Cardiovascular parameters and other clinical features of tumors were compared to determine those most useful according to whether suspicion of disease was based on periodic surveillance associated with hereditary risk or past history of disease, findings of an incidentaloma or clinical features of catecholamine excess.…”

Management of hypertension in pregnancy — prevention, diagnosis, treatment and long-term prognosis. A position statement of the Polish Society of Hypertension, Polish Cardiac Society and Polish Society of Gynaecologists and Obstetricians

“…Plasma or urinary fractionated metanephrines (normetanephrine and metanephrine measured separately) are the most useful and the most sensitive biochemical assays for PPGL, also in pregnant women. The determination of free metanephrines levels in plasma offers the highest diagnostic sensitivity (sensitivity 97-99%, specificity 82%) [157]. The urinary adrenaline and noradrenaline excretion have a lower sensitivity and specificity, whereas vanillylmandelic acid (VMA) and dopamine levels in urine, as well as blood catecholamine levels, are considered the least useful [151,152].…”