Which molecular alterations and genetic mutations are associated with squamous cell carcinoma (SCC)?

Updated: Jan 24, 2019
  • Author: Muhammad T Idrees, MD; Chief Editor: Liang Cheng, MD  more...
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Answer

The molecular data for the squamous cell carcinoma of the bladder has emerged mostly from the analysis of schistosomal-associated cases. Overrepresentation of 5p, 6p, 7p, 8q, 11q, 17q, and 20q of chromosomal material has been detected by cytogenetic and classic molecular analysis. In addition, deletions at 3p, 4q, 5q, 8p, 13q, 17p, and 18q have also been reported. [29, 30, 31, 32, 33, 34, 35]

As with urothelial carcinoma, a wide range of p53 positivity has been observed in schistosomal-associated squamous cell carcinoma in different studies. [36, 37, 38, 39] In one study, TP53 mutations in schistosomal-associated squamous cell carcinoma included more base transitions at CpG dinucleotides than seen in urothelial carcinomas. [39]

Other molecular alterations known to occur in urothelial carcinomas, such as HRAS mutations, [40, 41] epidermal growth factor receptor (EGFR) overexpression, and HER2 expression were also found at comparable frequencies in schistosomal-associated squamous cell carcinomas. [42] Methylation of DNA as shown by detection of O6-methyldeoxyguanosine has been found in a high percentage of patients with schistosomiasis-associated cancers in Egypt. [43, 44]

A few sporadic cases of squamous cell carcinoma examined by classic cytogenetics and comparative genomic hybridization (GCH) have shown gains at 1q, 8qa, and 20q, as well as losses of 3p, 9p, and 13q. [30, 45, 46, 47]


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