Presence of microsatellite instability in esophageal squamous cell carcinoma associated with chagasic megaesophagus

• Published in: Biomarkers in medicine Vol. 12; no. 6; pp. 573 - 582
• Main Authors: Campanella, Nathália C, Lacerda, Croider Franco, Berardinelli, Gustavo Noriz, Abrahão-Machado, Lucas Faria, Cruvinel-Carloni, Adriana, Torres de Oliveira, Antônio Talvane, Scapulatempo-Neto, Cristovam, Crema, Eduardo, Adad, Sheila Jorge, Marchesan Rodrigues, Maria Aparecida, Coelho Arruda Henry, Maria Aparecida, Guimarães, Denise Peixoto, Reis, Rui Manuel
• Format: Journal Article
• Language: English
• Published: England Future Medicine Ltd 01-06-2018; Future Medicine
• Subjects: Biomarkers; Cancer therapies; Chagas disease; Chagasic megaesophagus; Ciências Médicas; Clonal deletion; Colorectal cancer; Deoxyribonucleic acid; DNA; Dysphagia; Esophageal cancer; Esophageal squamous cell carcinoma; Gene deletion; HSP10; Medicina Básica; Megaesophagus; Microsatellite instability; Mismatch repair; Motility; MSH6; MSH6 protein; Patients; Science & Technology; Squamous cell carcinoma; Tumors; Iran; Brazil; MSH6; esophageal squamous cell carcinoma; microsatellite instability; Chagas disease; HSP10; mismatch repair; chagasic megaesophagus
• ISSN: 1752-0363; 1752-0371
• DOI: 10.2217/bmm-2017-0329

The molecular pathogenesis of esophageal squamous cell carcinoma (ESCC) has been increasingly studied, but there is no report on the role of MSI in ESCC development associated with chagasic megaesophagus (CM).
In four ESCC/CM (4/19) we found microsatellite instability (MSI) alterations (21.1%), being three MSI-L (15.8%) and one MSI-H (5.3%). Four out of 35 ESCC cases showed MSI-L (11.4%) and only one out of 26 CM cases presented MSI-L (3.9%). The MSI-H was observed in an ESCC/CM patient that presents lack of MSH6 immunostaining corroborating deficiency in MMR pathway. Interestingly, the MSI-H ESCC/CM case also presented a deletion the HSP110 poly(T)17 gene.
Taking together, we concluded that MSI is a rare event in esophageal squamous cell carcinoma, but can be associated with CM.