ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2019
Detection of driver mutations in BRAF can aid in diagnosis and early treatment of dedifferentiated metastatic melanoma.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 23 citations in OpenAlex.
- Undifferentiated and Dedifferentiated Metastatic Melanomas Masquerading as Soft Tissue Sarcomas: Mutational Signature Analysis and Immunotherapy Response.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity.Genes, chromosomes & cancer · 2023Article
- PRAME expression in spindle cell melanoma, malignant peripheral nerve sheath tumour, and other cutaneous sarcomatoid neoplasms: a comparative analysis.Histopathology · 2022Article
- Characterization and Clinical Utility ofCancers · 2021Article
- Undifferentiated large cell/rhabdoid carcinoma presenting in the intestines of patients with concurrent or recent non-small cell lung cancer (NSCLC): clinicopathologic and molecular analysis of 14 cases indicates an unusual pattern of dedifferentiated metastases.Virchows Archiv : an international journal of pathology · 2021Article
- Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies.Frontiers in oncology · 2021Review
- Melanoma brain metastases: review of histopathological features and immune-molecular aspects.Melanoma management · 2020Review
- Detection of Gene Mutations in Liquid Biopsy of Melanoma Patients: Overview and Future Perspectives.Current treatment options in oncology · 2020Review
- Somatic Mutation Profiling of Intrahepatic Cholangiocarcinoma: Comparison between Primary and Metastasis Tumor Tissues.Journal of oncology · 2020Article
- Simultaneous Photodiagnosis and Photodynamic Treatment of Metastatic Melanoma.Molecules (Basel, Switzerland) · 2019Review
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dedifferentiated metastatic melanoma can pose a significant diagnostic challenge, especially if the history of primary melanoma is not known or is remote. BRAF and NRAS mutations are common melanoma driver mutations that are usually sequenced to evaluate for treatment targets. We evaluated whether BRAF and NRAS mutational testing could contribute to the diagnosis of dedifferentiated metastatic melanoma when immunostains are negative. Seven patients with melanoma who had an additional diagnosis of poorly differentiated sarcoma with negative melanocytic immunostains were tested for BRAF and NRAS mutations. Three patients showed identical BRAF mutations in the melanoma and the poorly differentiated sarcoma and hence were re-classified as metastatic dedifferentiated melanoma. In these three patients, there was an average delay of 7 months before appropriate testing, workup and treatment for metastatic melanoma was initiated. Two of these patients currently have stable metastatic disease and show sustained therapeutic response to melanoma-specific treatment including BRAF inhibitors. BRAF mutational analysis should therefore be considered in cases of poorly differentiated sarcoma, especially if there is a known history of melanoma or with unusual localization of disease. The administration of melanoma-specific treatments in such dedifferentiated cases can show therapeutic response, highlighting the importance of rendering accurate diagnoses on such cases.
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