[HTML][HTML] DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma

IA González, DR Stewart, KAP Schultz, AP Field… - Modern Pathology, 2022 - Elsevier
Abstract DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial
tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most …

[HTML][HTML] Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities

AS Venkataramany, KM Schieffer, K Lee, CE Cottrell… - Annals of …, 2022 - Elsevier
Background Compared with adult cancers, pediatric cancers are uniquely characterized by
a genomically stable landscape and lower tumor mutational burden. Alternative splicing …

Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival

J Kim, Z Vaksman, LE Egolf, R Kaufman… - JNCI: Journal of the …, 2024 - academic.oup.com
Background Neuroblastoma is an embryonal cancer of the developing sympathetic nervous
system. The genetic contribution of rare pathogenic or likely pathogenic germline variants in …

Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma

F Bonfiglio, VA Lasorsa, S Cantalupo, G D'Alterio… - …, 2023 - thelancet.com
Background Neuroblastoma (NB) is the most common solid extracranial paediatric tumour.
Genome-wide association studies have driven the discovery of common risk variants, but no …

Whole-exome sequencing study of familial nasopharyngeal carcinoma and its implication for identifying high-risk individuals

TM Wang, YQ He, WQ Xue, JB Zhang… - JNCI: Journal of the …, 2022 - academic.oup.com
Background Nasopharyngeal carcinoma (NPC) is closely associated with genetic factors
and Epstein-Barr virus infection, showing strong familial aggregation. Individuals with a …

Multidisciplinary treatment strategies for Wilms tumor: recent advances, technical innovations and future directions

TM Theilen, Y Braun, K Bochennek, U Rolle… - Frontiers in …, 2022 - frontiersin.org
Significant progress has been made in the management of Wilms tumor (WT) in recent
years, mostly as a result of collaborative efforts and the implementation of protocol-driven …

Pediatric solid tumors and associated cancer predisposition syndromes: Workup, management, and surveillance. A summary from the APSA Cancer Committee

CN Grant, D Rhee, ET Tracy, JH Aldrink… - Journal of pediatric …, 2022 - Elsevier
Abstract Background/Purpose Cancer predisposition syndromes (CPS) are a
heterogeneous group of inherited disorders that greatly increase the risk of developing …

Recent advances in pediatric cancer research

TA McEachron, LJ Helman - Cancer research, 2021 - AACR
Over the past few years, the field of pediatric cancer has experienced a shift in momentum,
and this has led to new and exciting findings that have relevance beyond pediatric …

FGFR1 is a potential therapeutic target in neuroblastoma

F Cimmino, A Montella, M Tirelli, M Avitabile… - Cancer Cell …, 2022 - Springer
Background FGFR1 regulates cell–cell adhesion and extracellular matrix architecture and
acts as oncogene in several cancers. Potential cancer driver mutations of FGFR1 occur in …

Advances in sarcoma molecular diagnostics

XQ Wang, A Goytain, BC Dickson… - Genes, Chromosomes …, 2022 - Wiley Online Library
Sarcomas are cancers of mesenchymal origin with the potential to arise in diverse anatomic
locations. With over 80 subtypes, which often demonstrate overlapping morphologies …