A summary of the inaugural WHO classification of pediatric tumors: transitioning from the optical into the molecular era

SM Pfister, M Reyes-Múgica, JKC Chan, H Hasle… - Cancer discovery, 2022 - AACR
Pediatric tumors are uncommon, yet are the leading cause of cancer-related death in
childhood. Tumor types, molecular characteristics, and pathogenesis are unique, often …

Implementation of precision medicine in healthcare—A European perspective

A Stenzinger, EK Moltzen, E Winkler… - Journal of Internal …, 2023 - Wiley Online Library
The technical development of high‐throughput sequencing technologies and the parallel
development of targeted therapies in the last decade have enabled a transition from …

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American …

K Manickam, MR McClain, LA Demmer, S Biswas… - Genetics in …, 2021 - nature.com
Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme

A Sosinsky, J Ambrose, W Cross, C Turnbull… - Nature Medicine, 2024 - nature.com
Abstract The Cancer Programme of the 100,000 Genomes Project was an initiative to
provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities …

Genomes for kids: the scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing

S Newman, J Nakitandwe, CA Kesserwan, EM Azzato… - Cancer discovery, 2021 - AACR
Genomic studies of pediatric cancer have primarily focused on specific tumor types or high-
risk disease. Here, we used a three-platform sequencing approach, including whole …

The European MAPPYACTS trial: precision medicine program in pediatric and adolescent patients with recurrent malignancies

P Berlanga, G Pierron, L Lacroix, M Chicard… - Cancer discovery, 2022 - AACR
MAPPYACTS (NCT02613962) is an international prospective precision medicine trial
aiming to define tumor molecular profiles in pediatric patients with recurrent/refractory …

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

A Villani, S Davidson, N Kanwar, WW Lo, Y Li… - Nature Cancer, 2023 - nature.com
We conducted integrative somatic–germline analyses by deeply sequencing 864 cancer-
associated genes, complete genomes and transcriptomes for 300 mostly previously treated …

Benefits for children with suspected cancer from routine whole-genome sequencing

A Hodder, SM Leiter, J Kennedy, D Addy, M Ahmed… - Nature Medicine, 2024 - nature.com
Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to
children with cancer and to alter treatment in high-risk patient groups. It remains unknown …

Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors

EM Fiala, G Jayakumaran, A Mauguen, JA Kennedy… - Nature cancer, 2021 - nature.com
The spectrum of germline predisposition in pediatric cancer continues to be realized. Here
we report 751 patients with solid tumors who underwent prospective matched tumor–normal …

Actionable tumor alterations and treatment protocol enrollment of pediatric and young adult patients with refractory cancers in the National Cancer Institute–Children's …

DW Parsons, KA Janeway, DR Patton… - Journal of Clinical …, 2022 - ascopubs.org
PURPOSE The National Cancer Institute–Children's Oncology Group Pediatric MATCH trial
aimed to facilitate evaluation of molecular-targeted therapies in biomarker-selected cohorts …