Toward explainable artificial intelligence for precision pathology

F Klauschen, J Dippel, P Keyl… - Annual Review of …, 2024 - annualreviews.org
The rapid development of precision medicine in recent years has started to challenge
diagnostic pathology with respect to its ability to analyze histological images and …

Cancer epigenetics in clinical practice

V Davalos, M Esteller - CA: a cancer journal for clinicians, 2023 - Wiley Online Library
Cancer development is driven by the accumulation of alterations affecting the structure and
function of the genome. Whereas genetic changes disrupt the DNA sequence, epigenetic …

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 …

[PDF][PDF] 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 …, 2022 - aacrjournals.org
Pediatric tumors are uncommon, yet are the leading cause of cancer-related death in
childhood. Tumor types, molecular characteristics, and pathogenesis are unique, often …

Prediction of DNA methylation-based tumor types from histopathology in central nervous system tumors with deep learning

DT Hoang, ED Shulman, R Turakulov, Z Abdullaev… - Nature Medicine, 2024 - nature.com
Precision in the diagnosis of diverse central nervous system (CNS) tumor types is crucial for
optimal treatment. DNA methylation profiles, which capture the methylation status of …

Molecular diagnostic tools for the World Health Organization (WHO) 2021 classification of gliomas, glioneuronal and neuronal tumors; an EANO guideline

F Sahm, S Brandner, L Bertero, D Capper… - Neuro …, 2023 - academic.oup.com
In the 5th edition of the WHO CNS tumor classification (CNS5, 2021), multiple molecular
characteristics became essential diagnostic criteria for many additional CNS tumor types …

DNA methylation-based classification of sinonasal tumors

P Jurmeister, S Glöß, R Roller, M Leitheiser… - Nature …, 2022 - nature.com
The diagnosis of sinonasal tumors is challenging due to a heterogeneous spectrum of
various differential diagnoses as well as poorly defined, disputed entities such as sinonasal …

The pediatric precision oncology INFORM registry: clinical outcome and benefit for patients with very high-evidence targets

CM Van Tilburg, E Pfaff, KW Pajtler… - Cancer …, 2021 - aacrjournals.org
INFORM is a prospective, multinational registry gathering clinical and molecular data of
relapsed, progressive, or high-risk pediatric patients with cancer. This report describes long …

The proteomic landscape of soft tissue sarcomas

J Burns, CP Wilding, L Krasny, X Zhu… - Nature …, 2023 - nature.com
Soft tissue sarcomas (STS) are rare and diverse mesenchymal cancers with limited
treatment options. Here we undertake comprehensive proteomic profiling of tumour …

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers

N Shukla, MF Levine, G Gundem, D Domenico… - Nature …, 2022 - nature.com
The utility of cancer whole genome and transcriptome sequencing (cWGTS) in oncology is
increasingly recognized. However, implementation of cWGTS is challenged by the need to …