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

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Campanella, Nathália C
Lacerda, Croider Franco
Berardinelli, Gustavo Noriz
Abrahão-Machado, Lucas Faria
Cruvinel-Carloni, Adriana
De Oliveira, Antônio Talvane Torres
Scapulatempo-Neto, Cristovam
Crema, Eduardo
Adad, Sheila Jorge
Rodrigues, Maria Aparecida Marchesan [UNESP]

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Aim: 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).Results/methodology: 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. Discussion/conclusion: Taking together, we concluded that MSI is a rare event in esophageal squamous cell carcinoma, but can be associated with CM.



Chagas disease, chagasic megaesophagus, esophageal squamous cell carcinoma, HSP10, microsatellite instability, mismatch repair, MSH6

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Biomarkers in Medicine, v. 12, n. 6, p. 573-582, 2018.