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Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome

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 colorecta...

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Detalles Bibliográficos
Autores principales: Shaukat, Zunaira, Wali, Rabia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7805505/
https://www.ncbi.nlm.nih.gov/pubmed/33489510
http://dx.doi.org/10.7759/cureus.12092
Descripción
Sumario: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.