Introduction
Treatment outcomes for children and adolescent young adult (AYA) with
cancer have improved with the development of therapeutic methods,
including surgery, chemotherapy, and radiation therapy. However, the
treatment outcomes of pediatric and AYA patients
with relapsed or refractory cancer
remain poor (1).
Recently, technological innovations in clinical-grade next-generation
sequencing (NGS) have contributed to the advancement of precision cancer
medicine in clinical oncology. Personalized medicine for adult patients
with advanced cancer is drawing attention worldwide (2). For example,
the development of molecular targeting drugs such as EGFR and ALK
inhibitors for lung cancer is remarkable
(3-5). A previous study showed
that NGS assays have also been utilized to detect variants associated
with a worse outcome in pediatric solid tumors, including TP53mutations and STAG2 loss in Ewing sarcoma, MYCNamplification in neuroblastoma, 1q gain in Wilms’ tumor, and PAX3gene rearrangements in alveolar rhabdomyosarcoma (6).
Tissue biopsy is often required for definitive diagnoses and risk
classification of pediatric solid tumors. However, the clinical utility
of comprehensive genomic profiling (CGP) for pediatric and AYA patients
with relapsed or refractory solid tumors is still not established.
In this pilot study, we investigated the clinical utility of CGP for
pediatric and AYA patients with solid tumors.