ArticleInvestigative ophthalmology & visual science2014
Identification of multiple DNA copy number alterations including frequent 8p11.22 amplification in conjunctival squamous cell carcinoma.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 33 citations in OpenAlex.
- Review
- Comparison of real-time PCR and nCounter NanoString techniques to validate copy number alterations in oral cancer.Scientific reports · 2025Article
- The Management of Ocular Surface Squamous Neoplasia (OSSN).International journal of molecular sciences · 2022Review
- Convergent evolution of a genomic rearrangement may explain cancer resistance in hystrico- and sciuromorpha rodents.NPJ aging and mechanisms of disease · 2021Article
- Update on the Management of Ocular Surface Squamous Neoplasia.Current ophthalmology reports · 2021Article
- ADAM3A copy number gains occur in a subset of conjunctival squamous cell carcinoma and its high grade precursors.Human pathology · 2019Article
- PD-L1/PD1 Expression, Composition of Tumor-Associated Immune Infiltrate, and HPV Status in Conjunctival Squamous Cell Carcinoma.Investigative ophthalmology & visual science · 2019Article
- Update on conjunctival pathology.Indian journal of ophthalmology · 2017Review
- Potential risk of esophageal squamous cell carcinoma due to nucleotide excision repair XPA and XPC gene variants and their interaction among themselves and with environmental factors.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Altered gene expression in conjunctival squamous cell carcinoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2016Article
- Next-Generation Sequencing-Based Molecular Profiling of Conjunctival Squamous Cell Carcinoma and Its Potential Application for Therapy.Ophthalmology scienceArticle
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeLittle is known about the molecular alterations that drive formation and growth of conjunctival squamous cell carcinoma (cSCC). We therefore sought to identify genetic changes that could be used as diagnostic markers or therapeutic targets.
methodsThe DNA extracted from 10 snap-frozen cSCC tumor specimens and 2 in situ carcinomas was analyzed using array-based comparative genomic hybridization (aCGH), and further examined with NanoString and quantitative PCR.
resultsThe number of regions of DNA loss ranged from 1 to 23 per tumor, whereas gains and amplifications ranged from 1 to 15 per tumor. Most large regions of chromosomal gain and loss were confirmed by NanoString karyotype analysis. The commonest alteration was amplification of 8p11.22 in 9 tumors (75%), and quantitative PCR analysis revealed 100-fold or greater overexpression of ADAM3A mRNA from 8p11.22 locus. In addition, recurring losses were observed at 14q13.2 and 22q11.23, both lost in 5 (42%) of the 12 tumors, and at 12p13.31, lost in 4 (33%) of the 12 samples. Of the eight loci associated with the DNA damage repair syndrome xeroderma pigmentosum, three showed loss of at least one allele in our aCGH analysis, including XPA (9q22.33, one tumor), XPE/DDB2 (11p11.2, one tumor) and XPG/ERCC5 (13q33.1, three tumors).
conclusionsConjunctival SCC contains a range of chromosomal alterations potentially important in tumor formation and growth. Amplification of 8p11.22 and overexpression of ADAM3A suggests a potential role for this protease. Our findings also suggest that defects in DNA repair loci are important in sporadic cSCC.
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