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PLoS One. 2019 Feb 5;14(2):e0211504. doi: 10.1371/journal.pone.0211504. eCollection 2019.

Characterisation and validation of Mel38; A multi-tissue microRNA signature of cutaneous melanoma.

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Geneseq Biosciences, Melbourne, Australia.



Histopathologic examination of melanocytic neoplasms can be challenging and subjective, with no specific circulating or tissue-based biomarkers currently available. Recently, a circulating 38-microRNA profile of melanoma (Mel38) was described. In this study, Mel38 expression and its impact on downstream mRNA regulation in solid tissue is examined.


Mel38 was applied to archival, clinically-annotated, solid-tissue genomic datasets representing benign naevi, primary and metastatic melanoma. Statistical analysis of the signature in relation to disease status, patient outcome and molecular pathways was performed.


Mel38 is able to stratify genomic data from solid tissue biopsies on the basis of disease status and differences in melanoma-specific survival. Experimentally-verified messenger-RNA targets of Mel38 also exhibit prognostic expression patterns and represent key molecular pathways and events in melanoma development and progression.


The Mel38 microRNA profile may have diagnostic and prognostic utility in solid tissue as well as being a robust circulating biomarker of melanoma.

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Conflict of interest statement

RVL is an employee of Geneseq Biosciences, a Melbourne (Australia) based start-up company that has applied for provisional patent protection on the genomic algorithm and methods described in this and previous studies [10]. International patent application No. PCT/AU2018/051050, patent name: “A method of diagnosis, staging and monitoring of melanoma using microRNA gene expression”. Geneseq Biosciences are developing an assay based on the microRNA signature described in this and previous studies (Melaseq™). Authors ML and SF are functioning in an unpaid advisory role and report no other competing interests. This does not alter our adherence to PLOS ONE policies on sharing data and materials.

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