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Constitutional mismatch repair deficiency syndrome: Do we know it?
Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228574/ https://www.ncbi.nlm.nih.gov/pubmed/25400351 http://dx.doi.org/10.4103/0971-6866.142902 |
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author | Ramachandra, C. Challa, Vasu Reddy Shetty, Rachan |
author_facet | Ramachandra, C. Challa, Vasu Reddy Shetty, Rachan |
author_sort | Ramachandra, C. |
collection | PubMed |
description | Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature. |
format | Online Article Text |
id | pubmed-4228574 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-42285742014-11-14 Constitutional mismatch repair deficiency syndrome: Do we know it? Ramachandra, C. Challa, Vasu Reddy Shetty, Rachan Indian J Hum Genet Case Report Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4228574/ /pubmed/25400351 http://dx.doi.org/10.4103/0971-6866.142902 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Ramachandra, C. Challa, Vasu Reddy Shetty, Rachan Constitutional mismatch repair deficiency syndrome: Do we know it? |
title | Constitutional mismatch repair deficiency syndrome: Do we know it? |
title_full | Constitutional mismatch repair deficiency syndrome: Do we know it? |
title_fullStr | Constitutional mismatch repair deficiency syndrome: Do we know it? |
title_full_unstemmed | Constitutional mismatch repair deficiency syndrome: Do we know it? |
title_short | Constitutional mismatch repair deficiency syndrome: Do we know it? |
title_sort | constitutional mismatch repair deficiency syndrome: do we know it? |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228574/ https://www.ncbi.nlm.nih.gov/pubmed/25400351 http://dx.doi.org/10.4103/0971-6866.142902 |
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