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. 2020 Aug;47(8):691-704.
doi: 10.1111/cup.13695. Epub 2020 Jun 2.

Targeted next generation sequencing (NGS) to classify melanocytic neoplasms

Samaneh K Zarabi  1 , Elizabeth M Azzato  2 , Zheng Jin Tu  2 , Ying Ni  3 , Steven D Billings  4 , Josh Arbesman  5 , Pauline Funchain  6 , Brian Gastman  5 , Daniel H Farkas  2 , Jennifer S Ko  4
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Targeted next generation sequencing (NGS) to classify melanocytic neoplasms

Samaneh K Zarabi et al. J Cutan Pathol. 2020 Aug.

Abstract

This study piloted a pan-solid-tumor next generation sequence (NGS)-based laboratory developed test as a diagnostic aid in melanocytic tumors. 31 cases (4 "epithelioid" nevi, 5 blue nevi variants, 7 Spitz tumors [3 benign and 4 malignant] and 15 melanomas) were evaluated. All tumors [median diameter 7 mm (range 4-15 mm); median thickness 2.25 mm (range 0.25-12 mm)] yielded satisfactory results. The number of small nucleotide variants/tumor was significantly different between melanoma (median 18/tumor, range 4-71) and all other lesions (median 8/tumor, range 3-17) (P < 0.004) and malignant (median 16/tumor, range 4-71) vs benign lesions (median 7/tumor, range 3-14) (P = 0.01). BRAF, MET, NTRK1, and ROS fusions only occurred in benign Spitz tumors; EML4 fusion, BRAF, MAP2K1 and TERT mutations occurred in malignant Spitz tumors and/or melanoma. Amplifications and NRAS and NF1 mutations only occurred in melanoma. Most melanomas contained >1 pathogenic alteration. Developed NGS-based criteria correctly classified all malignant lesions in this series. 10/12 cases showed concordance with FISH; consensus diagnosis agreed with NGS classification in FISH-non-concordant cases. This pilot study suggests that NGS may be an effective diagnostic adjunct comparable to FISH, but further studies with larger numbers of cases are needed.

Keywords: Spitz; ambiguous; melanoma; molecular; next generation sequencing.

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References

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