Custom Pediatric Oncology NGS Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care

Disorders in the PIK3CA-related overgrowth spectrum (PROS) due to somatic mosaicism are associated with segmental overgrowth of the body in conjunction with vascular, skeletal, and brain malformations such as hemimegalencephaly. A pathogenic variant may only be detectable in affected tissue and not in peripheral blood or saliva samples; therefore, archival tissue may be the only relevant available specimen for testing. While this is a common approach for cancer testing, it is not typically used for constitutional genetic disorders.

Source: Pediatric Neurology - September 30, 2020 Category: Neurology Authors: Catherine Quindipan, Jennifer A. Cotter, Jianling Ji, Wendy G. Mitchell, Diana J. Moke, Fariba Navid, Stefanie M. Thomas, Michele VanHirtum-Das, Larry Wang, Sulagna C. Saitta, Jaclyn A. Biegel, Matthew C. Hiemenz Tags: Short Communication Source Type: research