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Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?

A possible association between Friedreich's ataxia (FA) and neoplastic development has been recognized. FA patients have low frataxin levels and insufficient response to oxidative stress. In these patients fibroblasts are characterized by a high rate of mutations. Herein, a case of a 39-year-ol...

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Autores principales: Misiakos, Evangelos P., Siama, Elli, Schizas, Dimitrios, Petropoulos, Constantinos, Zavras, Nikos, Economopoulos, Nikos, Charalabopoulos, Alexandros, Macheras, Anastasios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159311/
https://www.ncbi.nlm.nih.gov/pubmed/21869894
http://dx.doi.org/10.1155/2011/648217
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author Misiakos, Evangelos P.
Siama, Elli
Schizas, Dimitrios
Petropoulos, Constantinos
Zavras, Nikos
Economopoulos, Nikos
Charalabopoulos, Alexandros
Macheras, Anastasios
author_facet Misiakos, Evangelos P.
Siama, Elli
Schizas, Dimitrios
Petropoulos, Constantinos
Zavras, Nikos
Economopoulos, Nikos
Charalabopoulos, Alexandros
Macheras, Anastasios
author_sort Misiakos, Evangelos P.
collection PubMed
description A possible association between Friedreich's ataxia (FA) and neoplastic development has been recognized. FA patients have low frataxin levels and insufficient response to oxidative stress. In these patients fibroblasts are characterized by a high rate of mutations. Herein, a case of a 39-year-old woman with FA tetraplegia, who was admitted in our department with intestinal obstruction due to a huge uterine tumor, is described. An abdominal CT revealed a huge intra-abdominal mass originating from the right cornu of the uterus. Tumor excision and adhesionlysis were performed. The histological examination of the tumor revealed a leiomyoma. FA patients seem to present with a variety of neoplasms uncommon for their young age. This is the first report of a leiomyoma originating from the genital system in a female patient with FA tetraplegia. Therefore it is important to identify neoplasms at an early stage in patients with FA and start immediate therapy.
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spelling pubmed-31593112011-08-25 Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association? Misiakos, Evangelos P. Siama, Elli Schizas, Dimitrios Petropoulos, Constantinos Zavras, Nikos Economopoulos, Nikos Charalabopoulos, Alexandros Macheras, Anastasios Case Rep Med Case Report A possible association between Friedreich's ataxia (FA) and neoplastic development has been recognized. FA patients have low frataxin levels and insufficient response to oxidative stress. In these patients fibroblasts are characterized by a high rate of mutations. Herein, a case of a 39-year-old woman with FA tetraplegia, who was admitted in our department with intestinal obstruction due to a huge uterine tumor, is described. An abdominal CT revealed a huge intra-abdominal mass originating from the right cornu of the uterus. Tumor excision and adhesionlysis were performed. The histological examination of the tumor revealed a leiomyoma. FA patients seem to present with a variety of neoplasms uncommon for their young age. This is the first report of a leiomyoma originating from the genital system in a female patient with FA tetraplegia. Therefore it is important to identify neoplasms at an early stage in patients with FA and start immediate therapy. Hindawi Publishing Corporation 2011 2011-08-14 /pmc/articles/PMC3159311/ /pubmed/21869894 http://dx.doi.org/10.1155/2011/648217 Text en Copyright © 2011 Evangelos P. Misiakos et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under 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
Misiakos, Evangelos P.
Siama, Elli
Schizas, Dimitrios
Petropoulos, Constantinos
Zavras, Nikos
Economopoulos, Nikos
Charalabopoulos, Alexandros
Macheras, Anastasios
Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?
title Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?
title_full Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?
title_fullStr Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?
title_full_unstemmed Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?
title_short Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?
title_sort massive uterine leiomyoma in a patient with friedreich's ataxia: is there a possible association?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159311/
https://www.ncbi.nlm.nih.gov/pubmed/21869894
http://dx.doi.org/10.1155/2011/648217
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