Pediatric Malignancy in the Setting of Lynch Syndrome: A Case Series and Review of the Literature

Pediatric Blood & Cancer 2026

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Authors: Jordan Heiman, Julia C. Meade, Kristin Zelley, Marilyn M. Li, Victoria E. Goodman, G. M. Brodeur, Bryson W. Katona, Suzanne P. MacFarland
DOI: 10.1002/1545-5017.70028
Cited by: 0
References: 24

Abstract

Lynch Syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline pathogenic/likely pathogenic variants in mismatch repair (MMR) genes. While LS is not traditionally thought to increase childhood cancer risk, some studies have shown an increased prevalence of germline MMR variants in the pediatric oncology population. Herein, we discuss 55 individuals with pediatric cancer and LS. Of these, MSH2 was the most common germline change (36%). Of those tested for loss of heterozygosity (LOH) or microsatellite instability (MSI), the majority had LOH present (78%) and were MSI high (71%), suggesting the contribution of LS to oncogenesis in these individuals.

Fields of Study & Subjects

Genetic factors in colorectal cancer BRCA gene mutations in cancer Genomics and Rare Diseases

Publication details

Journal / source
Pediatric Blood & Cancer
Volume
73
Issue
3
Pages
e70028–e70028
Publication date
16 January 2026
Language
EN