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 …

Molecular characteristics and therapeutic vulnerabilities across paediatric solid tumours

DTW Jones, A Banito, TGP Grünewald, M Haber… - Nature Reviews …, 2019 - nature.com
The spectrum of tumours arising in childhood is fundamentally different from that seen in
adults, and they are known to be divergent from adult malignancies in terms of cellular …

Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

D Sturm, D Capper, F Andreiuolo, M Gessi… - Nature medicine, 2023 - nature.com
The large diversity of central nervous system (CNS) tumor types in children and adolescents
results in disparate patient outcomes and renders accurate diagnosis challenging. In this …

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 …

Frequency of pathogenic germline variants in cancer-susceptibility genes in patients with osteosarcoma

L Mirabello, B Zhu, R Koster, E Karlins, M Dean… - JAMA …, 2020 - jamanetwork.com
Importance Osteosarcoma, the most common malignant bone tumor in children and
adolescents, occurs in a high number of cancer predisposition syndromes that are defined …

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

A Byrjalsen, TVO Hansen, UK Stoltze… - PLoS …, 2020 - journals.plos.org
PURPOSE: Historically, cancer predisposition syndromes (CPSs) were rarely established for
children with cancer. This nationwide, population-based study investigated how frequently …

Predisposition to cancer in children and adolescents

CP Kratz, MC Jongmans, H Cavé… - The lancet child & …, 2021 - thelancet.com
Childhood malignancies are rarely related to known environmental exposures, and it has
become increasingly evident that inherited genetic factors play a substantial causal role …

Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer

CP Kratz, D Smirnov, R Autry, N Jäger… - JNCI: Journal of the …, 2022 - academic.oup.com
Background Genetic predisposition is has been identified as a cause of cancer, yet little is
known about the role of adult cancer predisposition syndromes in childhood cancer. We …

Genetic counselor recommendations for cancer predisposition evaluation and surveillance in the pediatric oncology patient

H Druker, K Zelley, RB McGee, SR Scollon… - Clinical Cancer …, 2017 - AACR
As the understanding of the genetic etiology of childhood cancers increases, the need for
the involvement of experts familiar with the provision of genetic counseling for this …

Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations

C Koelsche, M Mynarek, D Schrimpf, L Bertero… - Acta …, 2018 - Springer
Patients with DICER1 predisposition syndrome have an increased risk to develop
pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several …