The Clinical Utility of Blood Neuroendocrine Gene Transcript Analysis, the NETest, in Paragangliomas and Pheochromocytomas

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Introduction: Diagnosis of disease and identification of progression are critical issues in paraganglioma (PGL) and pheochromocytoma (PCC) management. An accurate blood biomarker that defines tumor biology irrespective of biochemical activity is lacking.

Aim(s): Evaluate a 51-gene blood analytic (NETest) to diagnose and assess PCC/PGL.

Materials and methods: PCC/PGLs comprising HNP (n=15), adrenal (n=7), extra-adrenal (n=11), and metastatic (n=7). Median age 33 yrs. PCC/PGL were well-differentiated, had SDH mutations (76%) and were biochemically inactive (67%). Transcripts assessed by qPCR and multianalyte algorithmic analysis compared to age/sex matched GEP-NETs and controls (n=24). NETest measures disease activity risk 0-100% with low (<40%) and high activity risk cutoffs (>80%). CgA was by ELISA (normal <109ng/ml). Mann-Whitney and X2 tests used.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author: Pęczkowska M

Authors: Cwikła J, Pęczkowska M, Kolasińska-Ćwikła A, Chiarelli J, Modlin I,

Keywords: NETest, PCR,