In recent years, numerous overgrowth syndromes have been found to be caused by
pathogenic DNA sequence variants in “epigenes,” genes that encode proteins that function …

More attention has been paid to the inherited nature of malignant tumors in children and
adolescents, lately. Children with rare tumors may be at an increased risk of cancer because …

Abstract Background Still 30–40% of pediatric acute myeloid leukemia (pedAML) patients
relapse. Delineation of the transcriptomic profile of leukemic subpopulations could aid in a …

Pediatric low-grade gliomas (pLGG) are frequently driven by genetic alterations in the RAS-
mitogen-activated protein kinase (RAS/MAPK) pathway yet show unexplained variability in …

Gross cytogenetic anomalies are traditionally being used as diagnostic, prognostic and
therapeutic markers in the clinical management of cancer, including childhood acute …

This introduction to the special issue of AJMG Part C: Overgrowth Syndromes updates the
current understanding of overgrowth syndromes. We clarify the terminology associated with …

Cancer is a leading cause of death in both adults and children, but in terms of absolute
numbers, pediatric cancer is a relatively rare disease. The rarity of pediatric cancer is …

Pediatric high-grade gliomas (pHGG), including diffuse intrinsic pontine gliomas (DIPG), are
the most lethal types of cancer in children. In recent years, it has become evident that these …

Significant advances have been made over the past 25 years in our understanding of the
most common adult solid tumors such as breast, colon, lung and prostate cancer. Much less …

In the last two decades, thanks to the data that have been obtained from the Human
Genome Project and the development of next-generation sequencing (NGS) technologies …