title: Cytogenetic alterations in chagasic achalasia compared to esophageal carcinoma.
abstract: Patients with chagasic achalasia (megaesophagus) are liable to have an additional 1.7-20% possibility of developing esophageal squamous cell carcinoma (ESCC). We applied a fluorescence in situ hybridization technique in 20 such patients and found aneuploidies of chromosomes 7, 11, and 17 in 60% (12 of 20 specimens) and deletion of the TP53 gene in 54.5% (6 of 11 specimens; it was only possible to obtain data by FISH technique from 11 of the 20 achalasia patients). The main aneuploidies detected were chromosome 7 monosomy or trisomy (35%) in mid-third megaesophagus cases, and chromosome 17 monosomy or trisomy (25%) in distal-third cases. TP53 gene deletion was more frequent in mid-third (62.5%) than in distal-third megaesophagus cases (40%). In chagasic megaesophagus, no amplification of the cyclin D1 gene (CCND1) was observed. Comparing chagasic megaesophagus to ESCC, we found a higher frequency of aneuploidies in all 10 tumors. The main alterations were trisomy or tetrasomy of chromosomes 17 (90%), 11 (70%), and 7 (70%). Amplification of CCND1 was evidenced as a cluster in 70% of the tumors (22-99% of nuclei), while TP53 gene deletion occurred in 100%. To our knowledge, this is the first cytogenetic analysis of chagasic megaesophagus to show that aneuploidies of chromosomes 7, 11, and 17, and TP53 gene deletion might be related to increased risk for malignancy.
authors.affiliation: Departamento de Biologia, Universidade Estadual Paulista-Campus de São José do Rio Preto, Rua Cristóvão Colombo, 2265 15054-000-São José do Rio Preto, São Paulo, Brazil.
authors.forename: Fernanda da Silva
authors.initials: Fda S
authors.lastname: Manoel-Caetano
authors.forename: Aldenis Albaneze
authors.initials: AA
authors.lastname: Borim
authors.forename: Alaor
authors.initials: A
authors.lastname: Caetano
authors.forename: Patrícia Maluf
authors.initials: PM
authors.lastname: Cury
authors.forename: Ana Elizabete
authors.initials: AE
authors.lastname: Silva
mesh_terms: D000328:Adult; D000368:Aged; D000782:Aneuploidy; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D014355:Chagas Disease / Q000150:complications / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D019938:Cyclin D1 / Q000235:genetics; D004931:Esophageal Achalasia / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009006:Monosomy; D014314:Trisomy; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: D016159:Tumor Suppressor Protein p53; D019938:Cyclin D1