Mechanisms of Loss of Heterozygosity in Neurofibromatosis Type 1-Associated Plexiform Neurofibromas
نویسندگان
چکیده
منابع مشابه
Dissecting Loss of Heterozygosity (LOH) in Neurofibromatosis Type 1-Associated Neurofibromas: Importance of Copy Neutral LOH
Dermal neurofibromas (dNFs) are benign tumors of the peripheral nervous system typically associated with Neurofibromatosis type 1 (NF1) patients. Genes controlling the integrity of the DNA are likely to influence the number of neurofibromas developed because dNFs are caused by somatic mutational inactivation of the NF1 gene, frequently evidenced by loss of heterozygosity (LOH). We performed a c...
متن کاملResection of small plexiform neurofibromas in neurofibromatosis type 1 children
BACKGROUND: Plexiform neurofibromas (PNF) are benign tumors of the peripheral nerve which mostly develop in patients with neurofibromatosis type 1 (NF1). Surgical interventions are usually not applied to children with small tumors. These are rather restricted to debulking of larger tumors in adults that cause clinical complications or aesthetic disfigurement. In most cases, a total resection of...
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Plexiform neurofibroma is a rare variant but pathognomonic of von Recklinghausen disease. We report an uncommon presentation of neurofibromatosis type I in a girl. This 11-year old girl had multiple plexiform neurofibromas on her left hand, and also several Lisch’s nodules. Classification and clinical features are discussed briefly with emphasis on the possibility this condition may not be give...
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BACKGROUND Plexiform neurofibromas (PNs) are benign peripheral nerve sheath tumors that arise in one-third of individuals with neurofibromatosis type 1 (NF1). They may cause significant disfigurement, compression of vital structures, neurologic dysfunction, and/or pain. Currently, the only effective management strategy is surgical resection. Converging evidence has demonstrated that the NF1 tum...
متن کاملIdentification of Growth Hormone Receptor in Plexiform Neurofibromas of Patients with Neurofibromatosis Type 1
OBJECTIVE The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients. INTRODUCTION The development of multiple neurofibromas is one of the major features of neurofibromatosis type 1. Since neurofibromas commonly grow during periods of hormonal change, especially during puberty and pregnancy, it has been sugg...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2009
ISSN: 0022-202X
DOI: 10.1038/jid.2008.274