Eur J Pediatr Surg
DOI: 10.1055/s-0037-1605346
Original Article
Georg Thieme Verlag KG Stuttgart · New York

No Tissue Expression of KRAS or BRAF Mutations in 61 Adult Patients Treated for Esophageal Atresia in Early Childhood

Kien Xuan Dang1, Tho Ho2, Saara Sistonen3, Antti Koivusalo3, Mikko Pakarinen3, Risto Rintala3, Ulf-Hakan Stenman4, Arto Orpana5, Jakob Stenman6, 7
  • 1Minerva Foundation Institute for Medical Research, Helsinki, Finland
  • 2Department of Genomics, BPARC, Vietnam Military Medical University, Vietnam
  • 3Department of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
  • 4Department of Clinical Chemistry, University of Helsinki, Helsinki, Finland
  • 5Laboratory of Genetics, HUSLAB, Helsinki University Central Hospital, Helsinki, Finland
  • 6Institute for Molecular Medicine, Finland, Helsinki Finland
  • 7Department for Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
Further Information

Publication History

30 May 2017

22 June 2017

Publication Date:
05 September 2017 (eFirst)

Abstract

Background Previous studies have reported an association among esophageal atresia (EA), Barrett's esophagus, and esophageal adenocarcinoma later in life.

Objective The objective of the article is to evaluate KRAS and BRAF mutations as potential genetic markers for early detection of malignant transformation, we used an ultrasensitive technique to detect tissue expression of KRAS and BRAF mutations in endoscopic biopsies from 61 adult patients under follow-up after treatment for EA.

Methods RNA was extracted from 112 fresh-frozen endoscopic tissue biopsies from 61 adult patients treated for EA in early childhood. RNA was reverse transcribed using the extendable blocking probe reverse transcription method. KRAS codons 12 and 13, as well as BRAF mutations were detected by quantitative polymerase chain reaction.

Results No mutations of KRAS codon 12, KRAS codon 13, or BRAF were found in 112 endoscopic biopsy samples from 61 patients.

Conclusion Despite the presence of histological findings indicating long-standing gastroesophageal reflux in 25%, as well as symptomatic gastroesophageal reflux in more than 40%, there was no detectable tissue expression of KRAS or BRAF mutations in this cohort of patients.

Funding

This study was funded by Centre for International Mobility (CIMO) fellowships, Finska Läkare Sällskapet, Minerva Foundation Institute for Medical Research, funding for open access charge: University of Helsinki and Vietnam National Foundation for Science & Technology Development (NAFOSTED).