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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...

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Detalles Bibliográficos
Autores principales: Ramachandra, C., Challa, Vasu Reddy, Shetty, Rachan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
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.
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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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