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Am J Med Genet A. 2008 Jun 15;146A(12):1624-33. doi: 10.1002/ajmg.a.32301.

The role of steroid hormones in the NF1 phenotype: focus on pregnancy.

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  • 1Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109-2200, USA.

Abstract

The Neurofibromatosis Type 1 (NF1) gene functions as a tumor suppressor gene. Loss of its protein, neurofibromin, in the autosomal dominant disorder NF1 is associated with peripheral nervous system tumors, particularly neurofibromas, benign lesions in which the major cell type is the Schwann Cell (SC). Benign and malignant human tumors found in NF1 patients are heterogeneous with respect to their cellular composition. The number and size of neurofibromas in NF1 patients has been shown to increase during pregnancy, with, in some cases, post-partum regression, which suggests hormonal involvement in this increase. However, in this review, we consider evidence from the literature that both direct hormonal influence on tumor growth and on angiogenesis may contribute to these effects.

PMID:
18481270
DOI:
10.1002/ajmg.a.32301
[PubMed - indexed for MEDLINE]
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