Abstract
Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is a genetic disorder affecting the growth of cells in nervous system. One of the most remarkable characteristics of this disease is the development of benign tumors of the nervous system (neurofibromas).The purpose of this study was to test tissue samples taken from neurofibromas and plexiform neurofibromas of NF1 patients for the presence of estrogen and progesterone receptors. We used previously collected samples from patients registered in the database of the Centro Nacional de Neurofibromatose (CNNF-Brazil). Samples from twenty-five patients in the database presenting plexiform neurofibromas (N1 group) and 25 samples from the same database from patients presenting neurofibromas (N2 group) were tested.We observed positive staining for progesterone receptors in 13 of the neurofibroma samples and 19 of the plexiform neurofibroma samples. Among the neurofibroma samples, we observed one sample with positive estrogen receptor staining, but none of the plexiform neurofibroma samples showed positive staining. We suggest further studies to investigate in greater depth possible hormonal influences on the development and growth of neurofibromas and plexiform neurofibromas in NF1.
Highlights
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder primarily affecting the cell growth of neural tissue
We suggest further studies to investigate in greater depth possible hormonal influences on the development and growth of neurofibromas and plexiform neurofibromas in NF1
Following Ethical Committee approval, we performed a descriptive case study on 50 NF1 patients registered in the database of the Centro Nacional de Neurofibromatose (CNNF- Brazil), a national reference center for NF
Summary
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder primarily affecting the cell growth of neural tissue. Multiple neurofibromas tend to develop in NF1 patients, but solitary neurofibromas may affect individuals that do not have NF1 (Geller and Bonalumi Filho, 2004; Theos and Korf, 2006). Neurofibromas may be focal growths or can extend along the length of a nerve and may arise on any part of the body, cutaneously or subcutaneously (Theos and Korf, 2006). While cosmetic alterations arising from dermal neurofibromas are among the chief complaint among NF patients, cutaneous neurofibromas may cause itching and stinging, and subcutaneous neurofibromas may be painful and cause neurological deficit as a result of nerve compression (Ferner, 2007)
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