DNA methylation profiling: an emerging paradigm for cancer diagnosis

A Papanicolau-Sengos, K Aldape - Annual Review of Pathology …, 2022 - annualreviews.org
Histomorphology has been a mainstay of cancer diagnosis in anatomic pathology for many
years. DNA methylation profiling is an additional emerging tool that will serve as an adjunct …

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 …

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 …

Second-generation molecular subgrouping of medulloblastoma: an international meta-analysis of Group 3 and Group 4 subtypes

T Sharma, EC Schwalbe, D Williamson, M Sill… - Acta …, 2019 - Springer
In 2012, an international consensus paper reported that medulloblastoma comprises four
molecular subgroups (WNT, SHH, Group 3, and Group 4), each associated with distinct …

MRI radiogenomics of pediatric medulloblastoma: a multicenter study

M Zhang, SW Wong, JN Wright, MW Wagner, S Toescu… - Radiology, 2022 - pubs.rsna.org
Background Radiogenomics of pediatric medulloblastoma (MB) offers an opportunity for MB
risk stratification, which may aid therapeutic decision making, family counseling, and …

Time, pattern, and outcome of medulloblastoma relapse and their association with tumour biology at diagnosis and therapy: a multicentre cohort study

RM Hill, S Richardson, EC Schwalbe… - The Lancet Child & …, 2020 - thelancet.com
Background Disease relapse occurs in around 30% of children with medulloblastoma, and
is almost universally fatal. We aimed to establish whether the clinical and molecular …

Prognostic effect of whole chromosomal aberration signatures in standard-risk, non-WNT/non-SHH medulloblastoma: a retrospective, molecular analysis of the HIT …

T Goschzik, EC Schwalbe, D Hicks, A Smith… - The lancet …, 2018 - thelancet.com
Background Most children with medulloblastoma fall within the standard-risk clinical disease
group defined by absence of high-risk features (metastatic disease, large-cell/anaplastic …

Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification

J Goddard, J Castle, E Southworth, A Fletcher… - Acta …, 2023 - Springer
Abstract Group 4 tumours (MBGrp4) represent the majority of non-WNT/non-SHH
medulloblastomas. Their clinical course is poorly predicted by current risk-factors. MBGrp4 …

PCR amplicons identify widespread copy number variation in human centromeric arrays and instability in cancer

LG de Lima, E Howe, VP Singh, T Potapova, H Li, B Xu… - Cell genomics, 2021 - cell.com
Centromeric α-satellite repeats represent∼ 6% of the human genome, but their length and
repetitive nature make sequencing and analysis of those regions challenging. However …

How can genomic innovations in pediatric brain tumors transform outcomes in low-and middle-income countries?

S Bailey, A Davidson, J Parkes, U Tabori… - JCO Global …, 2022 - ascopubs.org
Advances in molecular diagnostics have led to improved stratification and targeted
interventions in the treatment of children with brain tumors. This has necessitated complex …