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

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%), bein...

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Published inBiomarkers 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
LanguageEnglish
Published England Future Medicine Ltd 01.06.2018
Future Medicine
Subjects
Adult
Aged
Biomarkers
Cancer therapies
Chagas disease
Chagas Disease - complications
Chagasic megaesophagus
Ciências Médicas
Clonal deletion
Colorectal cancer
Deoxyribonucleic acid
DNA
Dysphagia
Esophageal Achalasia - complications
Esophageal cancer
Esophageal Neoplasms - complications
Esophageal Neoplasms - genetics
Esophageal squamous cell carcinoma
Esophageal Squamous Cell Carcinoma - complications
Esophageal Squamous Cell Carcinoma - genetics
Female
Gene deletion
HSP10
Humans
Male
Medicina Básica
Megaesophagus
Microsatellite Instability
Middle Aged
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
Online AccessGet full text

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Abstract 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.
AbstractList 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.AIMThe 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.Taking together, we concluded that MSI is a rare event in esophageal squamous cell carcinoma, but can be associated with CM.DISCUSSION/CONCLUSIONTaking together, we concluded that MSI is a rare event in esophageal squamous cell carcinoma, but can be associated with CM.
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. Taking together, we concluded that MSI is a rare event in esophageal squamous cell carcinoma, but can be associated with CM.
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.
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. This project was supported by Conselho Nacional de Desenvolvimento Cientifico (CNPq) (476192/2013-7) for RM Reis. NC Campanella was recipient of the Fundacao de Amparo a Pesquisada do Estado de Sao Paulo (FAPESP) Post Doctoral Fellowship (2016/03634-9). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
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.
Author Scapulatempo-Neto, Cristovam
Coelho Arruda Henry, Maria Aparecida
Marchesan Rodrigues, Maria Aparecida
Torres de Oliveira, Antônio Talvane
Cruvinel-Carloni, Adriana
Lacerda, Croider Franco
Berardinelli, Gustavo Noriz
Reis, Rui Manuel
Campanella, Nathália C
Adad, Sheila Jorge
Crema, Eduardo
Guimarães, Denise Peixoto
Abrahão-Machado, Lucas Faria
AuthorAffiliation 1Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo, Brazil
8ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal
4Department of Digestive Surgery & Pathology, Medical School, UFTM -Federal University of Triângulo Mineiro, Uberaba, Minas Gerais, Brazil
2Department of Digestive Surgery, Barretos Cancer Hospital, Barretos, São Paulo, Brazil
5Department of Gastroenterology Surgery & Pathology, Medical School, UNESP - São Paulo State University, Botucatu, São Paulo, Brazil
6Department of Endoscopy, Barretos Cancer Hospital, Barretos, São Paulo, Brazil
7Life & Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal
3Department of Pathology & Molecular Diagnostics, Barretos Cancer Hospital, Barretos, São Paulo, Brazil
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/29873509$$D View this record in MEDLINE/PubMed
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esophageal squamous cell carcinoma
microsatellite instability
Chagas disease
HSP10
mismatch repair
chagasic megaesophagus
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Snippet 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...
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...
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SubjectTerms Adult
Aged
Biomarkers
Cancer therapies
Chagas disease
Chagas Disease - complications
Chagasic megaesophagus
Ciências Médicas
Clonal deletion
Colorectal cancer
Deoxyribonucleic acid
DNA
Dysphagia
Esophageal Achalasia - complications
Esophageal cancer
Esophageal Neoplasms - complications
Esophageal Neoplasms - genetics
Esophageal squamous cell carcinoma
Esophageal Squamous Cell Carcinoma - complications
Esophageal Squamous Cell Carcinoma - genetics
Female
Gene deletion
HSP10
Humans
Male
Medicina Básica
Megaesophagus
Microsatellite Instability
Middle Aged
Mismatch repair
Motility
MSH6
MSH6 protein
Patients
Science & Technology
Squamous cell carcinoma
Tumors
Title Presence of microsatellite instability in esophageal squamous cell carcinoma associated with chagasic megaesophagus
URI http://dx.doi.org/10.2217/bmm-2017-0329
http://hdl.handle.net/1822/58088
https://www.ncbi.nlm.nih.gov/pubmed/29873509
https://www.proquest.com/docview/2216511188
https://www.proquest.com/docview/2051065061
Volume 12
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