Development and validation of a noninvasive 2-gene molecular assay for cutaneous melanoma

Pedram Gerami*, Zuxu Yao, David Polsky, Burkhard Jansen, Klaus Busam, Jonhan Ho, Mary Martini, Laura K. Ferris

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

42 Scopus citations

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. Limitations 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.

Original languageEnglish (US)
Pages (from-to)114-120.e2
JournalJournal of the American Academy of Dermatology
Volume76
Issue number1
DOIs
StatePublished - Jan 1 2017

Keywords

  • LINC00518
  • biopsy
  • gene expression
  • histopathology
  • melanoma
  • noninvasive
  • preferentially expressed antigen in melanoma

ASJC Scopus subject areas

  • Dermatology

Fingerprint Dive into the research topics of 'Development and validation of a noninvasive 2-gene molecular assay for cutaneous melanoma'. Together they form a unique fingerprint.

Cite this