Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are neural crest-derived tumours that are most commonly found in the adrenal glands. PHEOs/PGLs represent diagnostically challenging and complex neuroendocrine tumours (NETs) which have limited or technically complex biomarker tests for diagnosis.

Pacak et al. tested the diagnostic utility of a NET-specific 51-marker blood assay (NETest) in a prospective, age-/gender-matched case–control study which included 81 patients with PHEOs/PGLs and age-/gender-matched controls (n=142). Target transcripts (mRNA) were isolated from whole blood, and gene expression was evaluated using multi-algorithmic artificial intelligence-based analysis.

In this prospective study, a blood-based (liquid biopsy) multigenomic assay was effective (accuracy >99%) as an in vitro diagnostic measure for PHEOs/PGLs. NETest is therefore likely to have clinical utility in the diagnosis and management of PHEO/PGL patients.

Read the full article in Endocrine-Related Cancer 28 731–734