Constitutional Mismatch Repair Deficiency (CMMRD) is a cancer predisposition syndrome that presents with brain, gastrointestinal and haematological malignancies. We conducted a retrospective analysis of 9 pediatric patients (<18-years at diagnosis) who were diagnosed with biopsy-proven colorectal carcinoma (CRC) from June 2006 until February 2019?at our center. We reviewed these records for evidence of CMMRD association, and identified 3 patients with CMMRD and one patient with Lynch syndrome by immunohistochemistry (IHC). Five patients died after a median follow up of 15.5 months (range 5–35 months) and 3 moved out of the country and thus lost to follow up.
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