title: Noninvasive genomic detection of melanoma.
abstract: BACKGROUND
  Early detection and treatment of melanoma is important for optimal clinical outcome, leading to biopsy of pigmented lesions deemed suspicious for the disease. The vast majority of such lesions are benign. Thus, a more objective and accurate means for detection of melanoma is needed to identify lesions for excision.
  
  
  OBJECTIVE
  To provide proof-of-principle that epidermal genetic information retrieval (EGIR™; DermTech International, La Jolla, CA, U.S.A.), a method that noninvasively samples cells from stratum corneum by means of adhesive tape stripping, can be used to discern melanomas from naevi.
  
  
  METHODS
  Skin overlying pigmented lesions clinically suspicious for melanoma was harvested using EGIR. RNA isolated from the tapes was amplified and gene expression profiled. All lesions were removed for histopathological evaluation.
  
  
  RESULTS
  Supervised analysis of the microarray data identified 312 genes differentially expressed between melanomas, naevi and normal skin specimens (P<0·001, false discovery rate q<0·05). Surprisingly, many of these genes are known to have a role in melanocyte development and physiology, melanoma, cancer, and cell growth control. Subsequent class prediction modelling of a training dataset, consisting of 37 melanomas and 37 naevi, discovered a 17-gene classifier that discriminates these skin lesions. Upon testing with an independent dataset, this classifier discerned in situ and invasive melanomas from naevi with 100% sensitivity and 88% specificity, with an area under the curve for the receiver operating characteristic of 0·955.
  
  
  CONCLUSIONS
  These results demonstrate that EGIR-harvested specimens can be used to detect melanoma accurately by means of a 17-gene genomic biomarker.
authors.affiliation: Research Service, VA San Diego Healthcare System, San Diego, CA 92161, USA. wwachsman@ucsd.edu
authors.forename: W
authors.initials: W
authors.lastname: Wachsman
authors.forename: V
authors.initials: V
authors.lastname: Morhenn
authors.forename: T
authors.initials: T
authors.lastname: Palmer
authors.forename: L
authors.initials: L
authors.lastname: Walls
authors.forename: T
authors.initials: T
authors.lastname: Hata
authors.forename: J
authors.initials: J
authors.lastname: Zalla
authors.forename: R
authors.initials: R
authors.lastname: Scheinberg
authors.forename: H
authors.initials: H
authors.lastname: Sofen
authors.forename: S
authors.initials: S
authors.lastname: Mraz
authors.forename: K
authors.initials: K
authors.lastname: Gross
authors.forename: H
authors.initials: H
authors.lastname: Rabinovitz
authors.forename: D
authors.initials: D
authors.lastname: Polsky
authors.forename: S
authors.initials: S
authors.lastname: Chang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000704:Analysis of Variance; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D005260:Female; D020869:Gene Expression Profiling / Q000379:methods; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics; D046228:Microarray Analysis; D008875:Middle Aged; D009506:Nevus / Q000175:diagnosis / Q000235:genetics; D012313:RNA / Q000235:genetics; D012680:Sensitivity and Specificity; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics; D053832:Surgical Tape
chemical_list: D012313:RNA