ArticleThe Journal of investigative dermatology2019
Genetic Mutations Underlying Phenotypic Plasticity in Basosquamous Carcinoma.
Article in The Journal of investigative dermatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Prevalence of genetic alterations in basal cell carcinoma patients resistant to Hedgehog pathway inhibitors: a systematic review.Annals of medicine · 2025Pooled it
- The Switch/Sucrose Nonfermentable Subunit ARID1A Mediates Neutrophil-Associated Skin Inflammatory Responses.The Journal of investigative dermatology · 2024Article
- Acquisition of Drug Resistance in Basal Cell Nevus Syndrome Tumors through Basal to Squamous Cell Carcinoma Transition.The Journal of investigative dermatology · 2024Article
- Applying Multiomics to Basosquamous Carcinoma.The Journal of investigative dermatology · 2024Article
- Genetic Tools for Cell Lineage Tracing and Profiling Developmental Trajectories in the Skin.The Journal of investigative dermatology · 2024Review
- Article
- Case report: Pilomatrix carcinoma with PDL1 expression andFrontiers in immunology · 2024Article
- Review
- Methylation status, mRNA and protein expression of the SMAD4 gene in patients with non-melanocytic skin cancers.Molecular biology reports · 2023Article
- An Unusual Gingival (Peripheral) Tumor with Features of Keratoameloblastoma with Cytologic Atypia or Possible Malignant Transformation Exhibiting ARID1A Mutation.Head and neck pathology · 2023Article
- Skin basal cell carcinomas assemble a pro-tumorigenic spatially organized and self-propagating Trem2+ myeloid niche.Nature communications · 2023Article
- Review
- Basosquamous Carcinoma: A Commentary.Cancers · 2021Article
- c-FOS drives reversible basal to squamous cell carcinoma transition.Cell reports · 2021Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Basosquamous carcinoma (BSC) is an aggressive skin neoplasm with the features of both basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). While genetic drivers of BCC and SCC development have been extensively characterized, BSC has not been well studied, and it remains unclear whether these tumors originally derive from BCC or SCC. In addition, it is unknown which molecular pathways mediate the reprogramming of tumor keratinocytes toward basaloid or squamatized phenotypes. We sought to characterize the genomic alterations underlying sporadic BSC to elucidate the derivation of these mixed tumors. We identifed frequent Hedgehog (Hh) pathway mutations in BSCs, implicating Hh deregulation as the primary driving event in BSC. Principal component analysis of BCC and SCC driver genes further demonstrate the genetic similarity between BCC and BSC. In addition, 45% of the BSCs harbor recurrent mutations in the SWI/SNF complex gene, ARID1A, and evolutionary analysis revealed that ARID1A mutations occur after PTCH1 but before SCC driver mutations, indicating that ARID1A mutations may bestow plasticity enabling squamatization. Finally, we demonstrate mitogen-activated protein kinase pathway activation and the loss of Hh signaling associated with the squamatization of BSCs. Overall, these results support the genetic derivation of BSCs from BCCs and highlight potential factors involved in modulating tumor reprogramming between basaloid and squamatized phenotypes.
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Registered trials
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.