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Updated: Sep 13, 2025
Live-3D-Cell Immunocytochemistry Assays of Pediatric Diffuse Midline Glioma
Published on: November 11, 2021
Mismatch Repair Cancer Syndrome presenting as synchronous high-grade glioma and diffuse large B cell lymphoma in a
Margaret Massett1, Nicole Kendel2, Abdulrazak Alali3
1Akron Children's Hospital, USA.
Background:
Development of multiple distinct, synchronous cancer types in a pediatric patient is very rare and should raise suspicion for an underlying genetic predisposition to cancer.
Case Presentation:
We present a previously healthy seven-year-old male who was diagnosed with diffuse large B cell lymphoma after a ruptured appendicitis. During the same hospitalization, he was diagnosed with a high-grade glioma. He underwent subsequent genetic testing, which showed compound heterozygosity for PMS2. He was ultimately diagnosed with Mismatch Repair Cancer Syndrome-4, a subtype of Constitutional Mismatch Repair Deficiency syndrome. His newly discovered cancer predisposition syndrome led to multiple additional family members receiving the same diagnosis, which was especially important in a sibling with leukemia who received hematopoietic stem cell transplantation from an unaffected sibling donor.
Conclusion:
While rare, cancer predisposition syndromes should be suspected in pediatric patients presenting with two or more synchronous, distinct cancer types.
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