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Article

Constitutional Mismatch Repair Deficiency Syndrome as a Cause of Numerous Malignancies in a Teenage Patient-A Case Report.

Journal of pediatric hematology/oncology - 1 Oct 2023

Samborska Magdalena, Galli Dominika, Achkar Robert, Thambyrajah Sheanda, Derwich Katarzyna

Abstract excerpt

Constitutional mismatch repair deficiency syndrome is a genetic disorder resulting from a biallelic mutation in one of the following genes: MLH1, MSH2, MSH6, or PMS2. Individuals with constitutional mismatch repair deficiency are highly predisposed to develop both hematological and solid cancers in childhood, particularly lymphoma, brain tumors, and gastrointestinal neoplasms. We report a case of a boy diagnosed...

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Identifiers

PMID: 37526375
DOI: 10.1097/MPH.0000000000002727

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