Retrospective Cohort: Genomic Differences Between Pigmented Spindle Cell Nevi of Reed and Reed-Like Melanomas
| Autor: | Nike Beaubier, Kevin P. White, Lauren S. Mohan, Timothy Taxter, Bin Zhang, Victor L. Quan, Katherine Shi, Daniel Kim, Maria Cristina Isales, Pedram Yazdan, Yongzhan Zhang, Pedram Gerami, Ayesha U. Khan, Elsy V. Compres, Elnaz Panah |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Proto-Oncogene Proteins B-raf Pathology medicine.medical_specialty Skin Neoplasms Adolescent Cell Dermatology Biology medicine.disease_cause DNA sequencing Pathology and Forensic Medicine Diagnosis Differential Transcriptome Young Adult 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Older patients Predictive Value of Tests Nevus Epithelioid and Spindle Cell Exome Sequencing Biomarkers Tumor medicine Humans Genetic Predisposition to Disease Child Melanoma neoplasms In Situ Hybridization Fluorescence Aged Retrospective Studies Aged 80 and over Mutation Age Factors Infant Retrospective cohort study General Medicine Middle Aged medicine.disease Immunohistochemistry Phenotype medicine.anatomical_structure Child Preschool Female |
| Zdroj: | The American Journal of Dermatopathology. 42:641-647 |
| ISSN: | 0193-1091 |
| Popis: | Background Some melanomas closely resemble pigmented spindle cell nevi (PSCN) of Reed histologically. The distinction of these entities is important for clinical management. A recent study showed most PSCN (78%) are fusion-driven, commonly involving NTRK3 (57%). Conversely, BRAF V600E mutations are not characteristic of PSCN but are frequent in melanoma. Objective In this study, we assessed clinical, histologic and genomic differences between PSCN of Reed and Reed-like melanomas (RLMs). Methods We performed BRAF V600E immunohistochemistry (IHC) for 18 PSCN and 20 RLM cases. All 23 benign PSCN cases previously underwent whole transcriptome and targeted DNA sequencing with a 1711 gene panel. Results We previously demonstrated the majority of PSCN (18 of 23) has chimeric fusions. Among PSCN without a chimeric fusion, BRAF mutations were common. Noncanonical BRAF mutations were identified in 2 of 5 nonfusion cases, and 1 case had a canonical BRAF mutation. Alternatively, 70% of RLM demonstrated a BRAF V600E mutation. RLM also occurred more frequently in older patients. Limitations The overall sample size was small. Conclusions In diagnostically challenging cases, ancillary IHC studies can assist in distinguishing PSCN from RLM. Our study suggests positive staining by IHC for BRAF V600E and older age strongly favors a diagnosis of RLM. |
| Databáze: | OpenAIRE |
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