Article

The spectrum of Malignant and Non-malignant phenotype with Homozygous Mutation of PMS2 consistent with Constitutional Mismatch Repair Deficiency in an adolescent who underwent Bone Marrow Transplantation.

2022-03-30

Abstract excerpt

Constitutional Mismatch Repair Deficiency (CMMRD) is caused by a biallelic mutation on one of the four major mismatch repair (MMR) genes. It is a rare autosomal recessive syndrome that predisposes to childhood cancer. We present a 21-year-old African American with metachronous non-Hodgkin lymphoma during childhood, bone marrow transplant due to relapse, and stage IV duodenal adenocarcinoma as a young adult. His or...

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Literature Corpus work: 72a74789-c854-5f18-816e-e634cef580d9
DOI: 10.22541/au.164864117.79588353/v1

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