Dataset Information

The influence of a gene-expression signature on the treatment of diagnostically challenging melanocytic lesions.

ABSTRACT:

Aim

The effect of a gene-expression-based test on treatment of melanocytic neoplasms by dermatologists was evaluated.

Patients & methods

Pathologists submitted diagnostically challenging melanocytic neoplasms to a clinical laboratory for testing accompanied by pretest surveys documenting the intended treatment recommendations. The actual treatment rendered by dermatologists was then documented after testing. Changes between the pretest recommendations and actual treatment were analyzed.

Results

In 71.4% (55/77) of cases, there was a change from pretest recommendations to actual treatment. The majority of changes were consistent with the test result. There was an 80.5% (33/41) reduction in the number of biopsy site re-excisions performed for cases with a benign test result.

Conclusion

The actual treatment of diagnostically challenging melanocytic neoplasms is influenced by the test.

SUBMITTER: Cockerell C

PROVIDER: S-EPMC5480781 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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Publications

The influence of a gene-expression signature on the treatment of diagnostically challenging melanocytic lesions.

Cockerell Clay C Tschen Jaime J Billings Steven D SD Evans Brent B Brown Krystal K Rock Colleen C Clarke Loren E LE

Personalized medicine 20170123 2

<h4>Aim</h4>The effect of a gene-expression-based test on treatment of melanocytic neoplasms by dermatologists was evaluated.<h4>Patients & methods</h4>Pathologists submitted diagnostically challenging melanocytic neoplasms to a clinical laboratory for testing accompanied by pretest surveys documenting the intended treatment recommendations. The actual treatment rendered by dermatologists was then documented after testing. Changes between the pretest recommendations and actual treatment were ana ...[more]

PMID: 28757886

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Project description:Spitzoid neoplasms are a challenging group of cutaneous melanocytic proliferations that occur in children or adolescents but can also arise in the elderly. They are characterized by epithelioid and/ or spindle-shaped melanocytes with a stromal background of variable amounts of lymphocytes, blood vessels and sclerosis. According to the WHO 2018 classification, Spitzoid melanocytic lesions are classified as benign Spitz nevi (SN), atypical Spitz tumors (AST) or malignant Spitz tumors (MST). The intermediate AST category represents a diagnostically challenging group since on purely histopathological grounds, their benign or malignant character remains unpredictable. This results in uncertainties in patient management and prognosis. The molecular properties of Spitzoid lesions, especially their transcriptomic landscape, remain poorly understood and genomic alterations in melanoma-associated oncogenes are typically absent. The aim of this study was to characterize the transcriptome of Spitzoid melanocytic neoplasms with digital mRNA expression profiling. Formalin-fixed-paraffin-embedded samples (including 27 SN, 10 AST and 14 MST) were analyzed using the RNA NanoString nCounter PanCancer Pathways Gene Expression panel. The number of significantly differentially expressed genes in SN vs. MST, SN vs. AST and AST vs. MST was 68, 167 and 18, respectively. Gene set enrichment analysis revealed an upregulation of pathways related to epithelial mesenchymal transition, immunomodulatory-, angiogenesis- as well as myogenesis associated processes in AST and MST. In addition, a specific gene expression signature of SN vs. MST was discovered based on the top-ranked six most informative gene expression markers: NRAS, NF1, BMP2, EIF2B4, IFNA17 and FZD9. The AST samples showed intermediate levels of the identified signature. This implies that the identified gene expression signature can potentially be used to distinguish high-grade from low-grade AST. This combined histopathological and transcriptomic methodology is promising for diagnostics of Spitzoid neoplasms and patient management in dermatological oncology in the future.

Dataset Information

The influence of a gene-expression signature on the treatment of diagnostically challenging melanocytic lesions.

Aim

Patients & methods

Results

Conclusion

Publications

The influence of a gene-expression signature on the treatment of diagnostically challenging melanocytic lesions.

Similar Datasets

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