AUTHOR=Kebede Ann M. , Garfinkle Elizabeth A. R. , Mathew Mariam T. , Varga Elizabeth , Colace Susan I. , Wheeler Gregory , Kelly Benjamin J. , Schieffer Kathleen M. , Miller Katherine E. , Mardis Elaine R. , Cottrell Catherine E. , Potter Samara L. 

TITLE=Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center

JOURNAL=Frontiers in Oncology

VOLUME=Volume 14 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2024.1498409

DOI=10.3389/fonc.2024.1498409

ISSN=2234-943X

ABSTRACT=Despite the increasing availability of comprehensive next generation sequencing (NGS), its role in characterizing pediatric hematologic malignancies remains undefined. We describe findings from comprehensive genomic profiling of hematologic malignancies at a pediatric tertiary care center. Patients enrolled on a translational research protocol to aid in cancer diagnosis, prognostication, treatment, and detection of cancer predisposition. Disease-involved samples underwent exome and RNA sequencing and analysis for single nucleotide variation, insertion/deletions, copy number alteration, structural variation, fusions, and gene expression. Twenty-eight patients with hematologic malignancies were nominated between 2018-2021. Eighteen individuals received both germline and somatic sequencing; two received germline sequencing only. Germline testing identified patients with cancer predisposition syndromes and non-cancer carrier states. Fifteen patients (15/18, 83%) had cancer-relevant somatic findings. Potential therapeutic targets were identified in seven patients (7/18, 38.9%); three (3/7, 42.9%) received targeted therapies and remain in remission an average of 47 months later.