Identification of Multiple DNA Copy Number Alterations Including Frequent 8p11.22 Amplification in Conjunctival Squamous Cell Carcinoma

Abstract

Conjunctival 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.

Altered gene expression in conjunctival squamous cell carcinoma

“…The numerical progression of the case number corresponds to the cases analyzed in our previous report. 15 Gene expression in conjunctival squamous cell carcinoma A Mahale et al to synthesize cDNA using Reverse Transcription Reagents (Applied Byosystems, Foster City, CA, USA). qPCR for the selected genes was carried out as previously described.…”

“…Cases from our prior study 15 with sufficient frozen tissue available for RNA extraction and gene expression profiling were used. These included one primary conjunctival carcinoma in situ, six primary, and two recurrent conjunctival squamous cell carcinomas resected at King Khaled Eye Specialist Hospital between 2005 and 2010.…”

“…None of the patients were known to be immunosuppressed or have a history of HPV infection. Clinical features are described in Table 1 using the same case numbers as our prior publication 15 to facilitate comparisons with those previously reported DNA alterations.…”

“…This is consistent with our prior genomic study, which identified DNA deletions in conjunctival squamous cell carcinoma tumor specimens at loci encoding genes altered in Xeroderma Pigmentosum. 15 …”

“…13,14 We previously documented DNA copy number alterations in a cohort of 10 snap-frozen conjunctival squamous cell carcinoma tumor specimens and two in situ carcinomas by array-based comparative genomic hybridization assay, which allowed us to determine the most frequent DNA gains and losses. 15 We now compare transcriptional profiles of nine of these tumor specimens from a single center in Saudi Arabia to normal conjunctiva in order to identify dysregulated mRNAs representing molecular targets potentially useful for diagnosis and/or therapy.…”