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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Cureus
2020
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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 |
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author | Shaukat, Zunaira Wali, Rabia |
author_facet | Shaukat, Zunaira Wali, Rabia |
author_sort | Shaukat, Zunaira |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7805505 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-78055052021-01-21 Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome Shaukat, Zunaira Wali, Rabia Cureus Genetics 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. Cureus 2020-12-15 /pmc/articles/PMC7805505/ /pubmed/33489510 http://dx.doi.org/10.7759/cureus.12092 Text en Copyright © 2020, Shaukat et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Shaukat, Zunaira Wali, Rabia Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome |
title | Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome |
title_full | Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome |
title_fullStr | Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome |
title_full_unstemmed | Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome |
title_short | Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome |
title_sort | non-hodgkin’s lymphoma and colorectal carcinoma: metachronous occurrence in a patient with underlying dna mismatch repair syndrome |
topic | Genetics |
url | 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 |
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