Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS
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منابع مشابه
Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS
Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in NRAS, BRAF, and Tp53 have been described in individual CMN samples; however, their role in the pathogenesis of multiple CMN within the same subject and development of associated features has not been clear. We hypothesized that a single postzygotic mutation in NRAS...
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Introduction. The major medical concern with giant congenital melanocytic nevi CMN is high risk of developing cutaneous melanoma, leptomeningeal melanoma, and neurocutaneous melanocytosis. Case Report. A 30-year-old woman with a giant congenital melanocytic nevus covering nearly the entire right thoracodorsal region and multiple disseminated melanocytic nevi presented with neurological symptoms...
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Congenital melanocytic nevi are commonly encountered in clinical practice. Although the development of malignant melanoma arising in small and intermediate congenital melanocytic nevi is rare, there is a significant risk of malignant degeneration associated with large congenital melanocytic nevi, in particular those that arise on the torso in the so-called "bathing trunk" distribution, where th...
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Neurocutaneous melanosis is a rare neurocutaneous syndrome defi ned by the presence of multiple and /or giant congenital cutaneous nevi and melanocytic deposits in the central nervous system with the infi ltration of leptomeninges. The major medical concern with giant congenital cutaneous nevi is high risk of developing cutaneous melanoma, leptomeningeal melanoma, and neurocutaneous melanosis. ...
متن کاملBRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi.
Purpose To evaluate BRAF, NRAS, and GNAQ mutations in surgical specimens of common and blue conjunctival melanocytic nevi. Methods Surgical specimens from 25 conjunctival melanocytic nevi (23 common and 2 blue) of 25 patients were evaluated. All common nevi were analyzed immunohistochemically for the expression of BRAF V600E or NRAS Q61R. One lesion with negative immunoreactivity and for all ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2013
ISSN: 0022-202X
DOI: 10.1038/jid.2013.70