| Literature DB >> 33489510 |
Zunaira Shaukat1, Rabia Wali1.
Abstract
Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessive disorder caused by biallelic mutations in DNA mismatch repair genes 1. These patients have clinical stigmata of neurofibromatosis 1 (NF-1) with childhood onset of hematological malignancies, high grade gliomas, and colorectal-cancers 2. We present a case of non-Hodgkin's lymphoma (NHL) who later on developed adenocarcinoma colon at an age of 11 years with significant family history of glioblastoma in elder brother and colonic cancer in mother. This is the first case of CMMRD in Pakistan who developed colonic neoplasm at the age of 11 years. Nearly 150 patients of CMMRD have been reported worldwide.Entities:
Keywords: colorectal neoplasms; constitutional mismatch repair deficiency; dna mismatch repair; lymphoma; lynch syndrome; non-hodgkin's
Year: 2020 PMID: 33489510 PMCID: PMC7805505 DOI: 10.7759/cureus.12092
Source DB: PubMed Journal: Cureus ISSN: 2168-8184