Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature

An increased incidence of neoplasia was recently reported in patients with familial dysautonomia. This suggests that, in addition to its role in neuronal development, the IKBKAP gene may also influence DNA repair. Here we report the case of a 28-year-old male with familial dysautonomia who was found...

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Autores principales: Shvartsbeyn, Marianna, Rapkiewicz, Amy, Axelrod, Felicia, Kaufmann, Horacio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649887/
https://www.ncbi.nlm.nih.gov/pubmed/29147224
http://dx.doi.org/10.4021/wjon278w
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author Shvartsbeyn, Marianna
Rapkiewicz, Amy
Axelrod, Felicia
Kaufmann, Horacio
author_facet Shvartsbeyn, Marianna
Rapkiewicz, Amy
Axelrod, Felicia
Kaufmann, Horacio
author_sort Shvartsbeyn, Marianna
collection PubMed
description An increased incidence of neoplasia was recently reported in patients with familial dysautonomia. This suggests that, in addition to its role in neuronal development, the IKBKAP gene may also influence DNA repair. Here we report the case of a 28-year-old male with familial dysautonomia who was found to have neoplastic lesions detected post mortem as incidental findings. This case indicates that the prevalence of tumorgenesis within this population may be underestimated.
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spelling pubmed-56498872017-11-16 Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature Shvartsbeyn, Marianna Rapkiewicz, Amy Axelrod, Felicia Kaufmann, Horacio World J Oncol Case Report An increased incidence of neoplasia was recently reported in patients with familial dysautonomia. This suggests that, in addition to its role in neuronal development, the IKBKAP gene may also influence DNA repair. Here we report the case of a 28-year-old male with familial dysautonomia who was found to have neoplastic lesions detected post mortem as incidental findings. This case indicates that the prevalence of tumorgenesis within this population may be underestimated. Elmer Press 2011-02 2011-02-26 /pmc/articles/PMC5649887/ /pubmed/29147224 http://dx.doi.org/10.4021/wjon278w Text en Copyright 2011, Shvartsbeyn et al. http://creativecommons.org/licenses/by/2.0/ 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 work is properly cited.
spellingShingle Case Report
Shvartsbeyn, Marianna
Rapkiewicz, Amy
Axelrod, Felicia
Kaufmann, Horacio
Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature
title Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature
title_full Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature
title_fullStr Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature
title_full_unstemmed Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature
title_short Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature
title_sort increased incidence of tumors with the ikbkap gene mutation? a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649887/
https://www.ncbi.nlm.nih.gov/pubmed/29147224
http://dx.doi.org/10.4021/wjon278w
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