Special Considerations in the Molecular Diagnostics of Pediatric Neoplasms

Key points

Introduction

Pediatric neoplasms are fundamentally different from adult neoplasms, with different diagnoses, tumor biology, tumor genomes, and treatment algorithms. Pediatric solid and brain tumors and hematologic malignancies are relatively rare compared to their adult counterparts. Although the volume of cases may be low, the clinical impact of a correct diagnosis on the life of a child deserves special consideration, even within our cost-constrained health care systems.

An informed and inclusive molecular diagnostic program will include workflows, assays, and interpretation processes which accommodate young patients with cancer. Considerations for pediatric tumors begin with preanalytical factors, including tissue acquisition and handling, continue through analytical testing and interpretation of a given assay, and persist to include downstream implications for the patient, including clinical interpretation of genetic alterations, adjuvant and neoadjuvant treatment selection, and consideration of germline cancer predisposition. In this review, we focus on the unique elements of performing molecular diagnostics tailored to a predominantly pediatric patient population with benign and malignant neoplasms.

Discussion