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Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb(3)) in multiple cells types throughout the body...

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Autores principales: Thurberg, Beth L., Germain, Dominique P., Perretta, Fernando, Jurca-Simina, Iulia E., Politei, Juan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470937/
https://www.ncbi.nlm.nih.gov/pubmed/28649509
http://dx.doi.org/10.1016/j.ymgmr.2016.09.005
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author Thurberg, Beth L.
Germain, Dominique P.
Perretta, Fernando
Jurca-Simina, Iulia E.
Politei, Juan M.
author_facet Thurberg, Beth L.
Germain, Dominique P.
Perretta, Fernando
Jurca-Simina, Iulia E.
Politei, Juan M.
author_sort Thurberg, Beth L.
collection PubMed
description Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb(3)) in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease. Two of the cases are from the same family and shared the same GLA mutation. All four patients underwent surgical excision of their tumor. High resolution light microscopy and electron microscopy examination of one case revealed extensive involvement of tumor cells and associated blood vessels by GL-3 accumulation. Because of the small number of Fabry-associated cancer cases reported in the literature, questions about a possible link between lysosomal storage disorders and the development of malignancy remain open.
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spelling pubmed-54709372017-06-23 Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies Thurberg, Beth L. Germain, Dominique P. Perretta, Fernando Jurca-Simina, Iulia E. Politei, Juan M. Mol Genet Metab Rep Research Paper Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb(3)) in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease. Two of the cases are from the same family and shared the same GLA mutation. All four patients underwent surgical excision of their tumor. High resolution light microscopy and electron microscopy examination of one case revealed extensive involvement of tumor cells and associated blood vessels by GL-3 accumulation. Because of the small number of Fabry-associated cancer cases reported in the literature, questions about a possible link between lysosomal storage disorders and the development of malignancy remain open. Elsevier 2016-10-01 /pmc/articles/PMC5470937/ /pubmed/28649509 http://dx.doi.org/10.1016/j.ymgmr.2016.09.005 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Research Paper
Thurberg, Beth L.
Germain, Dominique P.
Perretta, Fernando
Jurca-Simina, Iulia E.
Politei, Juan M.
Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies
title Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies
title_full Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies
title_fullStr Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies
title_full_unstemmed Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies
title_short Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies
title_sort fabry disease: four case reports of meningioma and a review of the literature on other malignancies
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470937/
https://www.ncbi.nlm.nih.gov/pubmed/28649509
http://dx.doi.org/10.1016/j.ymgmr.2016.09.005
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