ArticleNature communications2019
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
What it found
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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
38 citing papers in PubMed, 73 citations in OpenAlex.
- Targeting noncanonical nuclear factor kappa B signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha.The British journal of dermatology · 2026Article
- Comprehensive comparison of salivary gland and cutaneous adnexal tumors: analogous versus discrepant clinical, terminological, histological, and molecular features : Part I.: Basic anatomy, overlapping topography, first series of related tumor entities.Virchows Archiv : an international journal of pathology · 2026Review
- Comprehensive Genomic Profiling of Cutaneous Adnexal Carcinomas: A Genomic Landscape Study.Dermatopathology (Basel, Switzerland) · 2026Article
- Case Report: CYLD cutaneous syndrome with malignant transformation to spiradenocarcinoma: cooperative effects of CYLD truncation and an MSH2 clamp-domain variant in an Ecuadorian patient.Frontiers in medicine · 2026Article
- Stable Disease Achieved with Sequential Immunochemotherapy and Anti-Angiogenic TKI in Recurrent Metastatic Hidradenocarcinoma: A Case Report and Literature Review.Oncology research · 2026Review
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Loss of alpha-kinase 1 contributes to the formation of congenital cataracts in mice.Cellular & molecular biology letters · 2025Article
- The importance of ALPK1 kinase functionality as a potential biomarker for inflammatory diseases.Molecular biology reports · 2025Review
- PRAME positive spiradenocarcinoma treated with Mohs micrographic surgery.JAAD case reports · 2025Article
- Article
- Spiradenoma: A Case Report and Review of the Literature.Diagnostics (Basel, Switzerland) · 2025Article
- Immune function analysis in a pediatric patient with aFrontiers in immunology · 2025Article
- Quantitative Measurement of the Kinase Activity of Wildtype ALPK1 and Disease-Causing ALPK1 Mutants Using Cell-Free Radiometric Phosphorylation Assays.Bio-protocol · 2024Article
- Measurement of the Activity of Wildtype and Disease-Causing ALPK1 Mutants in Transfected Cells With a 96-Well Format NF-κB/AP-1 Reporter Assay.Bio-protocol · 2024Article
- The 2023 WHO updates on skin tumors: advances since the 2018 edition.Pathologica · 2024Review
- [A case of trichoblastoma of the auricular cavity and review of the literature].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Review
- Genome-wide association study for stayability at different calvings in Nellore beef cattle.BMC genomics · 2024Article
- ALPK1 mutants causing ROSAH syndrome or Spiradenoma are activated by human nucleotide sugars.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Strategic Approach to Heterogeneity Analysis of Cutaneous Adnexal Carcinomas Using Computational Pathology and Genomics.JID innovations : skin science from molecules to population health · 2023Article
- A Bittersweet Kiss of Gram-Negative Bacteria: The Role of ADP-Heptose in the Pathogenesis of Infection.Microorganisms · 2023Review
Corrections and comments
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Authors and funding
26 authors at 12 institutions in 9 countries.
Funding
Abstract
Spiradenoma and cylindroma are distinctive skin adnexal tumors with sweat gland differentiation and potential for malignant transformation and aggressive behaviour. We present the genomic analysis of 75 samples from 57 representative patients including 15 cylindromas, 17 spiradenomas, 2 cylindroma-spiradenoma hybrid tumors, and 24 low- and high-grade spiradenocarcinoma cases, together with morphologically benign precursor regions of these cancers. We reveal somatic or germline alterations of the CYLD gene in 15/15 cylindromas and 5/17 spiradenomas, yet only 2/24 spiradenocarcinomas. Notably, we find a recurrent missense mutation in the kinase domain of the ALPK1 gene in spiradenomas and spiradenocarcinomas, which is mutually exclusive from mutation of CYLD and can activate the NF-κB pathway in reporter assays. In addition, we show that high-grade spiradenocarcinomas carry loss-of-function TP53 mutations, while cylindromas may have disruptive mutations in DNMT3A. Thus, we reveal the genomic landscape of adnexal tumors and therapeutic targets.
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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.