Targeted next generation sequencing ( NGS ) to classify melanocytic neoplasms
| Autor: | Zheng Jin Tu, Samaneh K. Zarabi, Jennifer S. Ko, Brian R. Gastman, Pauline Funchain, Ying Ni, Josh Arbesman, Elizabeth M Azzato, Steven D. Billings, Daniel H. Farkas |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Consensus Skin Neoplasms Histology Adolescent Concordance Pilot Projects Dermatology Diagnostic aid DNA sequencing Pathology and Forensic Medicine Young Adult 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Nevus Blue Nevus Epithelioid and Spindle Cell medicine Humans Child Melanoma In Situ Hybridization Fluorescence Aged Aged 80 and over Nucleotides business.industry High-Throughput Nucleotide Sequencing Infant Middle Aged medicine.disease Tumor Burden Child Preschool 030220 oncology & carcinogenesis Melanocytes Fish Female business Next generation sequence |
| Zdroj: | Journal of Cutaneous Pathology. 47:691-704 |
| ISSN: | 1600-0560 0303-6987 |
| DOI: | 10.1111/cup.13695 |
| Popis: | 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 contained1 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. |
| Databáze: | OpenAIRE |
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