ArticleThe American journal of surgical pathology2020
Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors.
Article in The American journal of surgical pathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 37 citations in OpenAlex.
- Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Odontogenic and Maxillofacial Bone Tumours.Head and neck pathology · 2022Pooled it
- The immunohistochemical profile of basal cell nevus syndrome-associated and sporadic odontogenic keratocysts: a systematic review and meta-analysis.Clinical oral investigations · 2021Pooled it
- Management of a Symphyseal Multilocular Odontogenic Keratocyst.Journal of medical cases · 2026Article
- Dental outcomes following treatment of pediatric odontogenic cysts: an 18-year retrospective analysis.BMC oral health · 2025Article
- Review
- Clinical Features and PTCH1 Expression in Gorlin-Goltz Syndrome: A Case Report.Reports (MDPI) · 2025Article
- Immunohistochemical Analysis of Dentigerous Cysts and Odontogenic Keratocysts Associated with Impacted Third Molars-A Systematic Review.Diagnostics (Basel, Switzerland) · 2024Review
- Discovery of metabolite biomarkers for odontogenic keratocysts.Metabolomics : Official journal of the Metabolomic Society · 2024Article
- An Unusual Gingival (Peripheral) Tumor with Features of Keratoameloblastoma with Cytologic Atypia or Possible Malignant Transformation Exhibiting ARID1A Mutation.Head and neck pathology · 2023Article
- Hedgehog signaling in tissue homeostasis, cancers, and targeted therapies.Signal transduction and targeted therapy · 2023Review
- Gorlin-Goltz Syndrome: A Case Report and Literature Review withArchives of plastic surgery · 2023Article
- Review
- Article
- Cystic Lesions of the Jaws: The Top 10 Differential Diagnoses to Ponder.Head and neck pathology · 2023Review
- Frequency and Demographic Profile of Odontogenic Cysts in Riyadh, Saudi Arabia: Retrospective Multicenter Study.Diagnostics (Basel, Switzerland) · 2023Article
- Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.Head and neck pathology · 2022Review
- Developmental Odontogenic Lesions Associated with the Crown of an Impacted Tooth: A Guide to the Distinct Histologic Features Required for Classification.Head and neck pathology · 2021Article
- Single-Cell RNA Sequencing Reveals CXCLs Enriched Fibroblasts Within Odontogenic Keratocysts.Journal of inflammation research · 2021Article
- Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.International journal of molecular sciences · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
Abstract
Keratocystic odontogenic tumors (KCOTs) are locally aggressive odontogenic neoplasms with recurrence rates of up to 60%. Approximately 5% of KCOTs are associated with nevoid basal cell carcinoma (Gorlin) syndrome and 90% of these show genomic inactivation of the PTCH1 gene encoding Patched 1. Sporadic KCOTs reportedly have PTCH1 mutations in 30% of cases, but previous genomic analyses have been limited by low tumor DNA yield. The aim of this study was to identify recurrent genomic aberrations in sporadic KCOTs using a next-generation sequencing panel with complete exonic coverage of sonic hedgehog (SHH) pathway members PTCH1, SMO, SUFU, GLI1, and GLI2. Included were 44 sporadic KCOTs from 23 female and 21 male patients with a median age of 50 years (range, 10 to 82 y) and located in the mandible (N=33) or maxilla (N=11). Sequencing identified PTCH1 inactivating mutations in 41/44 (93%) cases, with biallelic inactivation in 35 (80%) cases; 9q copy neutral loss of heterozygosity targeting the PTCH1 locus was identified in 15 (34%) cases. No genomic aberrations were identified in other sequenced SHH pathway members. In summary, we demonstrate PTCH1 inactivating mutations in 93% of sporadic KCOTs, indicating that SHH pathway alterations are a near-universal event in these benign but locally aggressive neoplasms. The high frequency of complete PTCH1 loss of function may provide a rational target for SHH pathway inhibitors to be explored in future studies.
Indexed as
Identifiers
What OpenQuestion holds
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.