Journal article

Pheo-type: A diagnostic gene-expression assay for the classification of pheochromocytoma and paraganglioma

A Flynn, T Dwight, J Harris, D Benn, L Zhou, A Hogg, D Catchpoole, P James, EL Duncan, A Trainer, AJ Gill, R Clifton-Bligh, RJ Hicks, RW Tothill

Journal of Clinical Endocrinology and Metabolism | Published : 2016

Abstract

Context: Pheochromocytomas and paragangliomas (PPGLs) are heritable neoplasms that can be classified into gene-expression subtypes corresponding to their underlying specific genetic drivers. Objective: This study aimed to develop a diagnostic and research tool (Pheo-type) capable of classifying PPGL tumors into gene-expression subtypes that could be used to guide and interpret genetic testing, determine surveillance programs, and aid in elucidation of PPGL biology. Design: A compendium of published microarray data representing 205 PPGL tumors was used for the selection of subtype-specific genes that were then translated to the Nanostring gene-expression platform. A support vector machine was..

View full abstract