Development and validation of a noninvasive 2-gene molecular assay for cutaneous melanoma
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- 作者：Pedram Gerami ; MDa ; pgerami1@nm.org ; Zuxu Yao ; PhDb ; David Polsky ; MD ; PhDc ; d ; Burkhard Jansen ; MDb ; Klaus Busam ; MDe ; Jonhan Ho ; MDf ; Mary Martini ; MDa ; Laura K. Ferris ; MD ; PhDf
- 关键词：biopsy ; gene expression ; histopathology ; LINC00518 ; melanoma ; noninvasive ; preferentially expressed antigen in melanoma
- 刊名：Journal of the American Academy of Dermatology
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：76
- 期：1
- 页码：114-120.e2
- 全文大小：495 K
- 卷排序：76
文摘
Clinical and histopathologic assessment of pigmented skin lesions remains challenging even for experts. Differentiated and accurate noninvasive diagnostic modalities are highly desirable.ObjectiveWe sought to provide clinicians with such a tool.MethodsA 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.ResultsIn 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.LimitationsThis technology cannot be used on mucous membranes, palms of hands, and soles of feet.ConclusionsThis 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.