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

被引：7

作者：

Campanella, Nathalia C. ^{[1
]}

Lacerda, Croider Franco ^{[1
,2
]}

Berardinelli, Gustavo Noriz ^{[1
]}

Abrahao-Machado, Lucas Faria ^{[3
]}

Cruvinel-Carloni, Adriana ^{[1
]}

Torres de Oliveira, Antoonio Talvane ^{[2
]}

Scapulatempo-Neto, Cristovam ^{[1
,3
]}

Crema, Eduardo ^{[4
]}

Adad, Sheila Jorge ^{[4
]}

Marchesan Rodrigues, Maria Aparecida ^{[5
]}

Coelho Arruda Henry, Maria Aparecida ^{[5
]}

Guimaraes, Denise Peixoto ^{[1
,6
]}

Reis, Rui Manuel ^{[1
,7
,8
]}

机构：

[1] Barretos Canc Hosp, Mol Oncol Res Ctr, Sao Paulo, Brazil

[2] Barretos Canc Hosp, Dept Digest Surg, Sao Paulo, Brazil

[3] Barretos Canc Hosp, Dept Pathol & Mol Diagnost, Sao Paulo, Brazil

[4] Univ Fed Triangulo Mineiro, Med Sch, Dept Digest Surg & Pathol, Uberaba, MG, Brazil

[5] UNESP Sao Paulo State Univ, Med Sch, Dept Gastroenterol Surg & Pathol, Botucatu, SP, Brazil

[6] Barretos Canc Hosp, Dept Endoscopy, Sao Paulo, Brazil

[7] Univ Minho, Sch Hlth Sci, Life & Hlth Sci Res Inst ICVS, Braga, Portugal

[8] ICVS 3Bs PT Govt Associate Lab, Braga, Portugal

来源：

BIOMARKERS IN MEDICINE | 2018年 / 12卷 / 06期

基金：

巴西圣保罗研究基金会;

关键词：

Chagas disease; chagasic megaesophagus; esophageal squamous cell carcinoma; HSP10; microsatel-lite instability; mismatch repair; MSH6; COLORECTAL-CANCER; MONONUCLEOTIDE REPEATS; PD-1; BLOCKADE; ACHALASIA; MARKERS; PATHWAYS; IMPROVES; DISEASE; TUMORS; DNA;

D O I：

10.2217/bmm-2017-0329

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

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.

引用

页码：573 / 582

页数：10

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