Philip J. Lupo

DNA methylation profiling reveals novel rhabdomyosarcoma subsets with distinct histologic, genetic and clinical properties

Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma, and is commonly divided into fusion-positive (FP) (predominantly PAX3::FOXO1 or PAX7::FOXO1) and fusion-negative (FN) subtypes. Based on our earlier finding of different DNA methylation patterns in the FP and FN subtypes, we hypothesized that ther...

Abstract C018: DNA methylation profiling reveals novel rhabdomyosarcoma subsets with distinct histologic, genetic and clinical properties

DNA methylation profiling provides a robust approach for subcategorizing the RMS family of soft tissue tumors into more homogeneous subsets, and confirms the presence of two major subsets (FN1 and FN2) in FN RMS as well as PAX3::FOXO1- and PAX7::FOXO1-enriched subsets in FP RMS.

Abstract C010: Updates from the Childhood Cancer Predisposition Study: A report from the Consortium for Childhood Cancer Predisposition

Genetic predisposition contributes to a much higher proportion of cancer in children than previously appreciated. This creates a unique opportunity to develop improved methods to identify children at increased risk for cancer, enable early detection or prevention of tumors, and improve cure rates with decreased m...

Pharmacogenetic variants in the molecular characterization initiative: a report from the children's oncology group.

Childhood cancer predisposition study: a prospective registry and biorepository protocol

Introduction Cancer is the most common cause of disease-related mortality in children, highlighting the urgent need for improved care in this population. It is estimated that >15% of children diagnosed with cancer harbour a germline pathogenic variant in a cancer predisposition gene which confers an increased risk to d...

The Childhood Cancer and Leukemia International Consortium (CLIC): Expanding Global Collaboration in Pediatric Cancer Etiology Research

The integration of genetic ancestry and germline susceptibility data is clarifying ancestry-related differences in leukemia biology and outcomes, while confirming risk loci with population-specific effects.