ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2017
SF3B1 and BAP1 mutations in blue nevus-like melanoma.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 99 citations in OpenAlex.
- What Is Pediatric Melanoma? Clinical and Genomic Features and the Role of Next-Generation Sequencing in Tumor Classification.International journal of dermatology · 2026Review
- Melanoma Arising in Blue Nevus: A Case Report Demonstrating the Primary Site in Disseminated Disease.Cureus · 2026Article
- Melanomas arising in blue nevi exhibit absence of TERT promoter mutations, low tumor mutational burden, and high frequency of distant metastases and disease-related mortality: a clinicopathologic and molecular study of 11 cases.Virchows Archiv : an international journal of pathology · 2026Article
- The Diagnostic and Prognostic Role of CombinedInternational journal of molecular sciences · 2026Review
- Blue nevus-like melanoma: A rare entity.Dermatology online journal · 2026Article
- Pathologist-initiated whole genome and transcriptome sequencing demonstrates diagnostic utility in resolving difficult-to-diagnose tumors.Genome medicine · 2025Article
- Clinicopathologic Features, Management, and Outcomes Of Pediatric CRTC1::TRIM11 and MED15::ATF1 Tumors With Spitzoid Morphology: A Case Series.Pediatric blood & cancer · 2025Article
- Blue Nevi and Melanoma Arising in Blue Nevus: A Comparative Histopathological Case Series.Reports (MDPI) · 2025Article
- Melanotrichoblastoma: A Histopathological Case Report of a Rare Pigmented Variant of Trichoblastoma.Reports (MDPI) · 2025Article
- Evaluation and Surgical Management of Pediatric Cutaneous Melanoma and Atypical Spitz and Non-Spitz Melanocytic Tumors (Melanocytomas): A Report From Children's Oncology Group.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Article
- Transactivation of Met signaling by oncogenic Gnaq drives the evolution of melanoma in Hgf-Cdk4 mice.Cancer gene therapy · 2024Article
- Expression of fibroblast growth factor receptor 2 (FGFR2) in combined hepatocellular-cholangiocarcinoma and intrahepatic cholangiocarcinoma: clinicopathological study.Virchows Archiv : an international journal of pathology · 2024Article
- Melanoma biology and treatment: a review of novel regulated cell death-based approaches.Cancer cell international · 2024Review
- Diagnosing Cutaneous Melanocytic Tumors in the Molecular Era: Updates and Review of Literature.Dermatopathology (Basel, Switzerland) · 2024Review
- Clinical and genetic characteristics ofFrontiers in immunology · 2024Article
- Atypical presentation of a late-onset blue nevus.JAAD case reports · 2022Article
- Genetic and methylation profiles distinguish benign, malignant and spitzoid melanocytic tumors.International journal of cancer · 2022Article
- Congenital uveal malignant melanoma- A rare case report.American journal of ophthalmology case reports · 2022Article
- Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.Molecular oncology · 2022Article
- Genomic and Transcriptomic Underpinnings of Melanoma Genesis, Progression, and Metastasis.Cancers · 2021Review
Corrections and comments
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Authors and funding
23 authors at 8 institutions in 4 countries.
Funding
Abstract
Blue nevi are melanocytic tumors originating in the cutaneous dermis. Malignant tumors may arise in association with or resembling blue nevi, so called 'blue nevus-like melanoma', which can metastasize and result in patient death. Identifying which tumors will behave in a clinically aggressive manner can be challenging. Identifying genetic alterations in such tumors may assist in their diagnosis and prognostication. Blue nevi are known to be genetically related to uveal melanomas (eg, both harboring GNAQ and GNA11 mutations). In this study, we analyzed a large cohort (n=301) of various morphologic variants of blue nevi and related tumors including tumors diagnosed as atypical blue nevi (n=21), and blue nevus-like melanoma (n=12), screening for all gene mutations known to occur in uveal melanoma. Similar to published reports, we found the majority of blue nevi harbored activating mutations in GNAQ (53%) or GNA11 (15%). In addition, rare CYSLTR2 (1%) and PLCB4 (1%) mutations were identified. EIF1AX, SF3B1, and BAP1 mutations were also detected, with BAP1 and SF3B1 R625 mutations being present only in clearly malignant tumors (17% (n=2) and 25% (n=3) of blue nevus-like melanoma, respectively). In sequencing data from a larger cohort of cutaneous melanomas, this genetic profile was also identified in tumors not originally diagnosed as blue nevus-like melanoma. Our findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue nevus-like melanoma from conventional epidermal-derived melanomas. Future studies will need to further elucidate the prognostic implications and appropriate clinical management for patients with tumors harboring these mutation profiles.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.