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

Author:

Campanella Nathália C1,Lacerda Croider Franco12,Berardinelli Gustavo Noriz1,Abrahão-Machado Lucas Faria3,Cruvinel-Carloni Adriana1,De Oliveira Antônio Talvane Torres2,Scapulatempo-Neto Cristovam13,Crema Eduardo4,Adad Sheila Jorge4,Rodrigues Maria Aparecida Marchesan5,Henry Maria Aparecida Coelho Arruda5,Guimarães Denise Peixoto16,Reis Rui Manuel178

Affiliation:

1. Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo, Brazil

2. Department of Digestive Surgery, Barretos Cancer Hospital, Barretos, São Paulo, Brazil

3. Department of Pathology & Molecular Diagnostics, Barretos Cancer Hospital, Barretos, São Paulo, Brazil

4. Department of Digestive Surgery & Pathology, Medical School, UFTM -Federal University of Triângulo Mineiro, Uberaba, Minas Gerais, Brazil

5. Department of Gastroenterology Surgery & Pathology, Medical School, UNESP - São Paulo State University, Botucatu, São Paulo, Brazil

6. Department of Endoscopy, Barretos Cancer Hospital, Barretos, São Paulo, Brazil

7. Life & Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal

8. ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal

Abstract

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.

Publisher

Future Medicine Ltd

Subject

Biochemistry (medical),Clinical Biochemistry,Drug Discovery

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