Diagnosis of melanoma and solar lentigo by nucleic acid analysis

Abstract

The present invention provides methods for diagnosing melanoma and/or solar lentigo in a subject by analyzing nucleic acid molecules obtained from the subject. The present invention also provides methods for distinguishing melanoma from solar lentigo and/or dysplastic nevi and/or normal pigmented skin. The methods include analyzing expression or mutations in epidermal samples, of one or more skin markers. The methods can include the use of a microarray to analyze gene or protein profiles from a sample

What is claimed is: 
     
         1 . A method of detecting one or more nucleic acid mutations, comprising:
 (a) detecting one or more nucleic acid mutations in a skin sample obtained from a subject by non-invasive sampling; and   (b) quantifying the one or more nucleic acid mutations.   
     
     
         2 . The method of  claim 1 , wherein the skin sample is obtained by applying the adhesive tape to a target area of skin on the subject, thereby adhering skin cells of the subject to the adhesive tape. 
     
     
         3 . The method of  claim 1 , wherein the one or more nucleic acid mutations comprise one or more point mutations, deletions, insertions, rearrangements, inversions, or transpositions. 
     
     
         4 . The method of  claim 1 , wherein the one or more nucleic acid mutations comprise one or more DNA mutations. 
     
     
         5 . The method of  claim 1 , wherein the one or more nucleic acid mutations comprise a mutation in a gene listed in any of Tables 1-8 or 10-12. 
     
     
         6 . The method of  claim 1 , wherein the one or more nucleic acid mutations comprise a mutation in a nucleic acid encoding preferentially expressed antigen in melanoma (PRAME) or C6orf218. 
     
     
         7 . The method of  claim 1 , wherein the one or more nucleic acid mutations comprise one or more miRNA mutations. 
     
     
         8 . The method of  claim 1 , wherein detecting the one or more nucleic acid mutations comprises sequencing a nucleic acid in the skin sample. 
     
     
         9 . The method of  claim 1 , wherein detecting the one or more nucleic acid mutations comprises use of: nucleic acid hybridization, a microarray, amplification, polymerase chain reaction, or an immunoassay. 
     
     
         10 . The method of  claim 1 , wherein quantifying the one or more nucleic acid mutations comprises performing a genetic analysis on the one or more detected mutations. 
     
     
         11 . The method of  claim 1 , wherein the skin sample comprises stratum corneum skin cells. 
     
     
         12 . The method of  claim 1 , wherein the skin sample comprises a skin lesion. 
     
     
         13 . The method of  claim 12 , wherein the skin sample comprises a cancer. 
     
     
         14 . The method of  claim 1 , further comprising characterizing the skin lesion as cancerous, and providing or predicting a cancer treatment for the subject. 
     
     
         15 . The method of  claim 14 , wherein characterizing the skin lesion as cancerous comprises distinguishing a melanoma from an atypical nevus or normal pigmented skin. 
     
     
         16 . The method of  claim 1 , further comprising comparing the quantified nucleic acid mutations before and during a therapy provided to the subject. 
     
     
         17 . A method for preparing a nucleic acid sample from a skin sample useful for analyzing one or more nucleic acid mutations, comprising:
 (a) isolating nucleic acids from a skin sample obtained from a subject by applying an adhesive tape to a target area of skin on the subject, thereby obtaining a nucleic acid sample;   (b) detecting one or more nucleic acid mutations in the nucleic acid sample; and   (c) quantifying the one or more nucleic acid mutations.   
     
     
         18 . The method of  claim 17 , wherein the one or more nucleic acid mutations comprise one or more DNA mutations. 
     
     
         19 . The method of  claim 17 , wherein the one or more nucleic acid mutations comprise one or more point mutations, deletions, insertions, rearrangements, inversions, or transpositions. 
     
     
         20 . The method of  claim 1 , wherein detecting the one or more nucleic acid mutations comprises use of: nucleic acid sequencing, nucleic acid hybridization, a microarray, amplification, polymerase chain reaction, or an immunoassay.