Legg-E'Silva D, Cave E M, Snyman T, Currin S, Kone N, Prigge K L
Department of Chemical Pathology, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South Africa.
Pract Lab Med. 2025 Jan 28;44:e00457. doi: 10.1016/j.plabm.2025.e00457. eCollection 2025 Apr.
Phaeochromocytoma, paraganglioma and neuroblastoma are catecholamine secreting neuroendocrine tumours. Biochemical screening for suspected cases of these tumours involves the measurement of catecholamines and their metabolites in either urine or plasma. The South African National Health Laboratory service (NHLS) measures urine fractionated metanephrines (UMF) and normetanephrines (UNF), urine vanillylmandelic acid (UVMA) and urine homovanillic acid (UHVA).
To analyse the demographic, biochemical and testing patterns of patients' UMF, UNF, UVMA and UHVA in the NHLS.
Data from January 2015 to December 2016 for all patients undergoing UMF, UNF, UVMA and UHVA testing was extracted from the NHLS central data warehouse. Neuroendocrine tumours were biochemically diagnosed when results were >2x multiples of the upper reference limits. Multiple testing was defined as ≥2 tests within a 14-day period. Ethnicity was determined through hot-deck imputation.
Biochemically abnormal test results were identified by UMF/UNF measurements in 98.2 % of cases. In 1.8 % of cases, the addition of UVMA resulted in a previously unidentified biochemical positive. Adult white and coloured populations have significantly less biochemically positive UMF results compared to the African population. Multiple testing resulted in discordant results for 12.8 % of UMF and 13.1 % of UNF testing.
UVMA testing for phaeochromocytoma and paraganglioma offers little benefit over testing with UMF alone. Requesting consecutive multiple samples is preferred, however, a single 24-h fractionated UMF/UNF is efficient and cost-effective for phaeochromocytoma and paraganglioma screening, with further testing recommended when clinically indicated. African individuals are more likely to have raised catecholamines and requires further investigation.
嗜铬细胞瘤、副神经节瘤和神经母细胞瘤是分泌儿茶酚胺的神经内分泌肿瘤。对这些肿瘤疑似病例的生化筛查包括测量尿液或血浆中的儿茶酚胺及其代谢产物。南非国家卫生实验室服务(NHLS)测量尿液中分离的甲氧基肾上腺素(UMF)和去甲氧基肾上腺素(UNF)、尿香草扁桃酸(UVMA)和尿高香草酸(UHVA)。
分析NHLS中患者UMF、UNF、UVMA和UHVA的人口统计学、生化和检测模式。
从NHLS中央数据仓库中提取2015年1月至2016年12月期间所有接受UMF、UNF、UVMA和UHVA检测患者的数据。当结果高于参考上限的2倍时,对神经内分泌肿瘤进行生化诊断。多次检测定义为在14天内进行≥2次检测。种族通过热插补法确定。
通过UMF/UNF测量在98.2%的病例中发现生化异常检测结果。在1.8%的病例中,添加UVMA导致了先前未发现的生化阳性结果。与非洲人群相比,成年白人和有色人种人群中生化阳性的UMF结果明显较少。多次检测导致12.8%的UMF检测和13.1%的UNF检测结果不一致。
对嗜铬细胞瘤和副神经节瘤进行UVMA检测与单独使用UMF检测相比益处不大。连续采集多个样本是首选方法,然而,单次24小时分离的UMF/UNF对于嗜铬细胞瘤和副神经节瘤筛查是有效且具有成本效益的,临床有指征时建议进一步检测。非洲个体更有可能儿茶酚胺升高,需要进一步调查。