title: Development and validation of a noninvasive 2-gene molecular assay for cutaneous melanoma.
abstract: BACKGROUND
  Clinical and histopathologic assessment of pigmented skin lesions remains challenging even for experts. Differentiated and accurate noninvasive diagnostic modalities are highly desirable.
  
  
  OBJECTIVE
  We sought to provide clinicians with such a tool.
  
  
  METHODS
  A 2-gene classification method based on LINC00518 and preferentially expressed antigen in melanoma (PRAME) gene expression was evaluated and validated in 555 pigmented lesions (157 training and 398 validation samples) obtained noninvasively via adhesive patch biopsy. Results were compared with standard histopathologic assessment in lesions with a consensus diagnosis among 3 experienced dermatopathologists.
  
  
  RESULTS
  In 398 validation samples (87 melanomas and 311 nonmelanomas), LINC00518 and/or PRAME detection appropriately differentiated melanoma from nonmelanoma samples with a sensitivity of 91% and a specificity of 69%. We established LINC00518 and PRAME in both adhesive patch melanoma samples and underlying formalin fixed paraffin embedded (FFPE) samples of surgically excised primary melanomas and in melanoma lymph node metastases.
  
  
  CONCLUSIONS
  This technology cannot be used on mucous membranes, palms of hands, and soles of feet.
  
  
  CONCLUSIONS
  This noninvasive 2-gene pigmented lesion assay classifies pigmented lesions into melanoma and nonmelanoma groups and may serve as a tool to help with diagnostic challenges that may be inherently linked to the visual image and pattern recognition approach.
authors.affiliation: Department of Dermatology, Northwestern University, Chicago, Illinois. Electronic address: pgerami1@nm.org.
authors.forename: Pedram
authors.initials: P
authors.lastname: Gerami
authors.affiliation: DermTech Inc, La Jolla, California.
authors.forename: Zuxu
authors.initials: Z
authors.lastname: Yao
authors.affiliation: Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York University Langone Medical Center, New York, New York; Ronald O. Perelman Department of Pathology, New York University School of Medicine, New York University Langone Medical Center, New York, New York.
authors.forename: David
authors.initials: D
authors.lastname: Polsky
authors.affiliation: DermTech Inc, La Jolla, California.
authors.forename: Burkhard
authors.initials: B
authors.lastname: Jansen
authors.affiliation: Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York.
authors.forename: Klaus
authors.initials: K
authors.lastname: Busam
authors.affiliation: Department of Dermatology, University of Pittsburgh, Pittsburgh, Pennsylvania.
authors.forename: Jonhan
authors.initials: J
authors.lastname: Ho
authors.affiliation: Department of Dermatology, Northwestern University, Chicago, Illinois.
authors.forename: Mary
authors.initials: M
authors.lastname: Martini
authors.affiliation: Department of Dermatology, University of Pittsburgh, Pittsburgh, Pennsylvania.
authors.forename: Laura K
authors.initials: LK
authors.lastname: Ferris
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000951:Antigens, Neoplasm / Q000235:genetics*; D001706:Biopsy / Q000379:methods; D005260:Female; D015870:Gene Expression; D006801:Humans; D008207:Lymphatic Metastasis; D008297:Male; D008545:Melanoma / Q000175:diagnosis / Q000235:genetics* / Q000556:secondary; D008875:Middle Aged; D009508:Nevus, Pigmented / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D062085:RNA, Long Noncoding / Q000235:genetics*; D012334:RNA, Neoplasm / Q000032:analysis*; D012680:Sensitivity and Specificity; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: D000951:Antigens, Neoplasm; C404944:PRAME protein, human; D062085:RNA, Long Noncoding; D012334:RNA, Neoplasm; C000617471:long non-coding RNA LINC00518, human
keywords: LINC00518; biopsy; gene expression; histopathology; melanoma; noninvasive; preferentially expressed antigen in melanoma