Document Detail

Update in molecular diagnostics in melanocytic neoplasms.
MedLine Citation:
PMID:  23060066     Owner:  NLM     Status:  In-Data-Review    
Future classification systems for melanocytic neoplasms will likely include the integration of molecular aberrations. A number of studies have shown that many gene mutations and chromosomal copy number aberrations may correlate with characteristic clinical and morphologic features for melanocytic neoplasms. This review discusses newly described familial germline mutations such as the BRCA1-associated protein-1 familial melanoma syndrome, recently described somatic mutations, and chromosomal copy number aberrations recently described in melanoma. Further, we discuss how these specific molecular aberrations correlate with specific clinical and morphologic features in melanocytic neoplasm and their implications for prognosis and molecular diagnostics. In addition, we discuss state of the art advancements in molecular diagnostics for melanocytic neoplasms and newly developed fluorescence in situ hybridization assays including the utility of fluorescence in situ hybridization for 9p21 in spitzoid melanocytic neoplasms. Lastly, we discuss a phenomenon known as paradoxical activation of wild-type BRAF seen in patients treated with vemurafenib and some potential clinical presentations of this process.
Chelsea Cooper; Jennifer Sorrell; Pedram Gerami
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Advances in anatomic pathology     Volume:  19     ISSN:  1533-4031     ISO Abbreviation:  Adv Anat Pathol     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-10-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9435676     Medline TA:  Adv Anat Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  410-6     Citation Subset:  IM    
*Department of Dermatology †Robert H. Lurie Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, IL.
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