DIAGNOSIS OF MELANOMA AND SOLAR LENTIGO BY NUCLEIC ACID ANALYSIS
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
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.