ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2020
Melanocytic tumors with MAP3K8 fusions: report of 33 cases with morphological-genetic correlations.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Genome-wide copy number variations as molecular diagnostic tool for cutaneous intermediate melanocytic lesions: a systematic review and individual patient data meta-analysis.Virchows Archiv : an international journal of pathology · 2021Pooled it
- Gene fusions in melanocytic lesions: an updated comprehensive review.Journal of pathology and translational medicine · 2026Article
- Role of Targeted Sequencing in Routine Diagnostics of Spitz Melanocytic Neoplasms-An Analysis of 70 Cases.Journal of cutaneous pathology · 2025Article
- Spitz tumours and mimickers.Virchows Archiv : an international journal of pathology · 2025Review
- Spitz melanoma with MAP3K8::ABLIM1 rearrangement: a case report with review of the literature.Diagnostic pathology · 2024Review
- Novel gene fusion discovery in Spitz tumours and its relevance in diagnostics.Virchows Archiv : an international journal of pathology · 2024Article
- Kinase Fusions in Spitz Melanocytic Tumors: The Past, the Present, and the Future.Dermatopathology (Basel, Switzerland) · 2024Review
- Spitz Tumors and Melanoma in the Genomic Age: A Retrospective Look at Ackerman's Conundrum.Cancers · 2023Review
- A New Potential Therapeutic Target for Cancer in Ubiquitin-Like Proteins-UBL3.International journal of molecular sciences · 2023Review
- Genetic and methylation profiles distinguish benign, malignant and spitzoid melanocytic tumors.International journal of cancer · 2022Article
- Novel insights into the BAP1-inactivated melanocytic tumor.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- The Morpho-Molecular Landscape of Spitz Neoplasms.International journal of molecular sciences · 2022Review
- Morphologic features in a series of 352 Spitz melanocytic proliferations help predict their oncogenic drivers.Virchows Archiv : an international journal of pathology · 2022Article
- Prognostic value of LECT2 and relevance to immune infiltration in hepatocellular carcinoma.Frontiers in genetics · 2022Article
- The Spectrum of Spitz Melanocytic Lesions: From Morphologic Diagnosis to Molecular Classification.Frontiers in oncology · 2022Review
- GOPC-ROS1 mosaicism in agminated Spitz naevi: report of two cases.Virchows Archiv : an international journal of pathology · 2021Article
- Melanoma pathology: new approaches and classification.The British journal of dermatology · 2021Review
- Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities.Dermatopathology (Basel, Switzerland) · 2021Review
- ESP, EORTC, and EURACAN Expert Opinion: practical recommendations for the pathological diagnosis and clinical management of intermediate melanocytic tumors and rare related melanoma variants.Virchows Archiv : an international journal of pathology · 2021Article
- Novel role of circRSU1 in the progression of osteoarthritis by adjusting oxidative stress.Theranostics · 2021Article
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Authors and funding
11 authors at 2 institutions in 2 countries.
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Abstract
We report a series of 33 skin tumors harboring a gene fusion of the MAP3K8 gene, which encodes a serine/threonine kinase. The MAP3K8 fusions were identified by RNA sequencing in 28 cases and by break-apart FISH in five cases. Cases in which fusion genes were fully characterized demonstrated a fusion of the 5' part of MAP3K8 comprising exons 1-8 in frame to one of several partner genes at the 3' end. The fusion genes invariably encoded the intact kinase domain of MAP3K8, but not the inhibitory domain at the C-terminus. In 13 (46%) of the sequenced cases, the 3' fusion partner was SVIL. Other recurrent 3' partners were DIP2C and UBL3, with additional fusion partners that occurred only in a single tumor. Clinically, the lesions appeared mainly in young adults (2-59 years of age; median = 18), most commonly involving the lower limbs (55%). Five cases were diagnosed as Spitz nevus, 13 as atypical Spitz tumor, and 15 as malignant Spitz tumor. Atypical and malignant cases more commonly occurred in younger patients. Atypical Spitz tumors and malignant Spitz tumors cases tended to show epidermal ulceration (32%), a dermal component with giant multinucleated cells (32%), and clusters of pigmented cells in the dermis (32%). Moreover, in atypical and malignant cases, a frequent inactivation of CDKN2A (21/26; 77%) was identified either by p16 immunohistochemistry, FISH, or comparative genomic hybridization. Gene expression analysis revealed that MAP3K8 expression levels were significantly elevated compared to a control group of 57 Spitz lesions harboring other known kinase fusions. Clinical follow-up revealed regional nodal involvement in two of six cases, in which sentinel lymph node biopsy was performed but no distant metastatic disease after a median follow-up time of 6 months.
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