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 …

Medulloblastoma

PA Northcott, GW Robinson, CP Kratz… - Nature reviews Disease …, 2019 - nature.com
Medulloblastoma (MB) comprises a biologically heterogeneous group of embryonal tumours
of the cerebellum. Four subgroups of MB have been described (WNT, sonic hedgehog …

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 …

Resolving medulloblastoma cellular architecture by single-cell genomics

V Hovestadt, KS Smith, L Bihannic, MG Filbin… - Nature, 2019 - nature.com
Medulloblastoma is a malignant childhood cerebellar tumour type that comprises distinct
molecular subgroups. Whereas genomic characteristics of these subgroups are well …

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

T Frebourg, S Bajalica Lagercrantz, C Oliveira… - European Journal of …, 2020 - nature.com
Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of
cancers related to germline alterations of TP53 has drastically changed:(i) germline TP53 …

Medulloblastoma in the age of molecular subgroups: a review: JNSPG 75th Anniversary Invited Review Article

K Juraschka, MD Taylor - Journal of Neurosurgery: Pediatrics, 2019 - thejns.org
Medulloblastoma is the most common pediatric malignant brain tumor. Advances in
molecular profiling have uncovered significant heterogeneity among medulloblastomas and …

Medulloblastomics revisited: biological and clinical insights from thousands of patients

V Hovestadt, O Ayrault, FJ Swartling… - Nature Reviews …, 2020 - nature.com
Medulloblastoma, a malignant brain tumour primarily diagnosed during childhood, has
recently been the focus of intensive molecular profiling efforts, profoundly advancing our …

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 …

Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma

OS Chapman, J Luebeck, S Sridhar, ITL Wong, D Dixit… - Nature …, 2023 - nature.com
Circular extrachromosomal DNA (ecDNA) in patient tumors is an important driver of
oncogenic gene expression, evolution of drug resistance and poor patient outcomes …

Analysis of the Li-Fraumeni spectrum based on an international germline TP53 variant data set: an international agency for research on cancer TP53 database …

CP Kratz, C Freycon, KN Maxwell, KE Nichols… - JAMA …, 2021 - jamanetwork.com
Importance Li-Fraumeni syndrome is a cancer predisposition syndrome that is associated
with a high, lifelong risk of a broad spectrum of cancers that is caused by …