What question did this study set out to answer?

The study aims to explore the impact of Lynch Syndrome on pediatric cancer cases and its genetic implications.

January 20, 2026

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

JHJordan HeimanChildren's Hospital of Philadelphia JMJulia MeadeUniversity of Pittsburgh KZKristin Zelley

Key Points

The study aims to explore the impact of Lynch Syndrome on pediatric cancer cases and its genetic implications.
Analyzed cases of 55 individuals diagnosed with pediatric cancer and identified as having Lynch Syndrome.
Conducted genetic testing to identify germline variants in mismatch repair genes.
Evaluated loss of heterozygosity and microsatellite instability in patients.
MSH2 variant found in 36% of individuals tested.
78% of patients exhibited loss of heterozygosity.
71% of cases were classified as microsatellite instability high, implicating Lynch Syndrome in their oncogenesis.

Abstract

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.

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