Hormonal influence in neurofibromatosis type 1-associated neurofibromas

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2012
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NOVA SCIENCE PUBLISHERS, INC.
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CUNHA, K. S. G.
MEZITIS, S.
GELLER, M.
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Cunha, K. S. G.; Bronstein, M.; Mezitis, S.; Geller, M.. Hormonal influence in neurofibromatosis type 1-associated neurofibromas. In: . ADVANCES IN NEUROFIBROMATOSIS RESEARCH: NOVA SCIENCE PUBLISHERS, INC., 2012. p.25-42.
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One of the main clinical manifestations of Neurofibromatosis type 1 (NF1) is the development of multiple neurofibromas. It has been suggested that loss of heterozygosity (LOH) of the NF1 gene in Schwann cells represents the first step in the development of NF1-associated neurofibromas. Beyond mutations of the NF1 gene, numerous additional factors probably influence neurofibroma formation and growth. Periods of hormonal changes (puberty and pregnancy) have been correlated with an increase in number and growth rate of discrete neurofibromas, and also with malignant transformation of plexiform neurofibromas. Research advances have been made in elucidating the hormonal influence in neurofibromas of NF1. Most of the studies developed to date focused on the study of steroid hormones, mainly sex steroid hormones, on the development of neurofibromas. It seems that progesterone and androgen are responsible, at least in part, for the alterations observed in neurofibromas during periods of hormonal changes. The investigations of the influence of growth hormone (GH) in neurofibromas are still in their initial steps, but it is known that the majority of NF1-associated neurofibromas express GH receptor and also insulin-like growth factor 1 (IGF-1) receptor. Current knowledge suggests that selective hormone receptor could be useful for the treatment of NF1-associated neurofibromas. © 2012 by Nova Science Publishers, Inc. All rights reserved.
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Referências
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