Published online Mar 7, 2018. doi: 10.3748/wjg.v24.i9.1056
Peer-review started: October 28, 2017
First decision: November 22, 2017
Revised: December 4, 2017
Accepted: January 24, 2018
Article in press: January 24, 2018
Published online: March 7, 2018
At presentation (age 36-47 years) all four patients born with esophageal atresia (EA) complained of progressive dysphagia, and two of them had lost weight.
Clinical diagnosis was made by upper endoscopy, revealing a for potentially malignant circular stenotic lesion in the esophagus in three cases and a tumor in the colonic interposition in one case.
The differential diagnosis included severe ulcerative esophagitis, benign stenotic anastomosis, and motility disorder.
Carcinoembryonic antigen (CEA) was measured (normal) in the patient with a colonic adenocarcinoma in the colonic interposition.
In addition to upper endoscopy a positron emission tomography-computed tomography scan (PET-CT scan) - in combination with endoscopic ultrasound in one case - was performed, which revealed a stenotic esophagus in three cases; a circumferential thickening of the colonic interposition in one case; potentially malignant lymph nodes in three cases; and suspected tumor invasion in two cases.
Histology and immunohistochemistry results confirmed the diagnosis of squamous cell carcinoma of the esophagus in three cases and adenocarcinoma of the colonic interposition in one case, in the latter case pentaplex microsatellite instability testing and mismatch repair gene expression analysis for MLH1, MSH2, MSH6 and PMS2 were normal.
The esophageal cancer patients underwent (sub)total esophagectomy with reconstruction (curative intent); received induction chemotherapy (paclitaxel/carboplatin) followed by chemoradiotherapy (curative intent); or received palliative radiotherapy or chemotherapy. The patient with colon cancer was treated with induction chemotherapy (capecitabine/oxaliplatin) followed by resection of the colonic interposition with construction of an esophagostoma and jejunal fistula for feeding.
Up to two-thirds of EA patients suffer from gastroesophageal reflux, which in the long-term might lead to mucosal damage including Barrett’s esophagus and esophageal adenocarcinoma. As dysphagia is common (up to 72%) after EA repair, this symptom may be neglected as an early warning symptom of esophageal cancer in these patients. Up till now, eight esophageal cancer cases have been described in young EA patients.
EA with or without tracheoesophageal fistula (TEF) is a common congenital malformation and requires surgical correction early in life. The Gross classification divides five types of EA: type A (isolated EA), type B (EA with proximal TEF), type C (EA with distal TEF), type D (EA with dual TEF’s) or type E (isolated TEF).
VACTERL is an acronym that describes a nonrandom association of birth defects: Vertebral anomalies, Anal atresia, Cardiac anomalies, TEF, Renal anomalies, and Limb defects.
These patients’ relatively young age, the fact that only few carcinogenic factors were identified and the high incidence of cancer development in a low prevalence disease suggest that EA carries an increased risk for esophageal cancer development. This emphasizes the importance of lifelong screening and surveillance of the upper gastrointestinal tract in EA patients.