Abstract
BackgroundChagas' disease is a human tropical parasitic illness and a subset of the chronic patients develop megaesophagus or megacolon. The esophagus dilation is known as chagasic megaesophagus (CM) and one of the severe late consequences of CM is the increased risk for esophageal carcinoma (ESCC). Based on the association between CM and ESCC, we investigated whether genes frequently showing unbalanced copy numbers in ESCC were altered in CM by fluorescence in situ (FISH) technology.MethodsA total of 50 formalin-fixed, paraffin-embedded esophageal mucosa specimens (40 from Chagas megaesophagus-CM, and 10 normal esophageal mucosa-NM) were analyzed. DNA FISH probes were tested for FHIT, TP63, PIK3CA, EGFR, FGFR1, MYC, CDKN2A, YES1 and NCOA3 genes, and centromeric sequences from chromosomes 3, 7 and 9.ResultsNo differences between superficial and basal layers of the epithelial mucosa were found, except for loss of copy number of EGFR in the esophageal basal layer of CM group. Mean copy number of CDKN2A and CEP9 and frequency of nuclei with loss of PIK3CA were significantly different in the CM group compared with normal mucosa and marginal levels of deletions in TP63, FHIT, PIK3CA, EGFR, CDKN2A, YES and gains at PIK3CA, TP63, FGFR1, MYC, CDNK2A and NCOA3 were detected in few CM cases, mainly with dilation grades III and IV. All changes occurred at very low levels.ConclusionsGenomic imbalances common in esophageal carcinomas are not present in chagasic megaesophagus suggesting that these features will not be effective markers for risk assessment of ESCC in patients with chagasic megaesophagus.
Highlights
Chagas’ disease is a human tropical parasitic illness and a subset of the chronic patients develop megaesophagus or megacolon
Subjects Formalin-fixed, paraffin-embedded (FFPE) esophageal mucosa was obtained from 40 patients with diagnosis of chagasic megaesophagus (CM) who underwent middle and distal esophageal biopsies from 2000 to 2007 at the Hospital de Base (São José do Rio Preto, SP, Brazil)
Superficial and basal layers of the esophageal mucosa did not show significant differences, excepted for EGFR in the CM group (p = 0.008) that showed lower copy number in the basal layer. Results from both layers were combined for comparison of mean copy numbers per cell of the each molecular target and no difference was detected between CM and NM
Summary
Chagas’ disease is a human tropical parasitic illness and a subset of the chronic patients develop megaesophagus or megacolon. The esophagus dilation is known as chagasic megaesophagus (CM) and one of the severe late consequences of CM is the increased risk for esophageal carcinoma (ESCC). Chagas’ disease is a human tropical parasitic disease which occurs in the Americas, in South America. It affects 16 to 18 million people in tropical and subtropical countries of Latin America [1]; in Brazil, the number of cases has reached 6 million [2]. The estimated incidence in 2008 was 10550 new cases with an incidence per 100 thousand individuals varying among geographical areas from 1.04 to 19.07 in males and 0.39 to 7.58 in females [8]
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