Esophageal cancer in an adult with congenital esophageal stenosis: a case report

Abstract

Background: Congenital esophageal stenosis (CES) is a rare condition. We encountered a case of esophageal cancer that developed in an adult with persistent CES. Although many studies have investigated the therapeutic outcomes and performed surveillance for symptoms after treatment for CES, few have performed long-term surveillance or reported on the development of esophageal cancer. We report this case because it is extremely rare and has important implications.

Case presentation: A 45-year-old woman with worsening dysphagia was transferred to our hospital. The patient was diagnosed with CES at 5 years of age and underwent surgery at another hospital. The patient underwent esophageal dilatation for stenosis at 36 years of age. Esophagoscopy performed at our hospital revealed a circumferential ulcerated lesion and stenosis 15-29 cm from the incisors. Histological examination of the biopsy specimen revealed squamous cell carcinoma. Computed tomography (CT) revealed abnormal circumferential wall thickening in parts of the cervical and almost the entire thoracic esophagus. ¹⁸F-fluorodeoxyglucose-positron emission tomography-CT revealed increased uptake in the cervical and upper esophagus. No uptake was observed in the muscular layers of the middle or lower esophagus. Based on these findings, the patient was diagnosed with clinical stage IVB cervical and upper esophageal cancer (T3N1M1 [supraclavicular lymph nodes]). The patient underwent a total esophagectomy after neoadjuvant chemotherapy. The esophagus was markedly thickened and tightly adhered to the adjacent organs. Severe fibrosis was observed around the trachea. Marked thickening of the muscular layer was observed throughout the esophagus; histopathological examination revealed that this thickening was due to increased smooth muscle mass. No cartilage, bronchial epithelium, or glands were observed. The carcinoma extended from the cervical to the middle esophagus, oral to the stenotic region. Finally, we diagnosed the patient with esophageal cancer developing on CES of the fibromuscular thickening type.

Conclusions: Chronic mechanical and chemical irritations are believed to cause cancer of the upper esophagus oral to a persistent CES, suggesting the need for long-term surveillance that focuses on residual stenosis and cancer development in patients with CES.

Keywords: Adult; Congenital esophageal stenosis; Esophageal cancer; Fibromuscular thickening.

Fig. 1

Findings before treatment. a Esophagoscopy shows a circumferential ulcerated lesion and stenosis 15–29 cm from the incisors. b–d Contrast-enhanced computed tomography (CT) image: abnormal circumferential wall thickening in parts of the cervical and most of the thoracic esophagus. Cervical lesion invading the adventitia (cT3). e–g Positron emission tomography (PET)-CT images show uptake in the cervical and upper esophagus and no uptake in the muscular layer of the middle and lower esophagus

Fig. 2

Macroscopic findings of the resected esophagus. a The marked thickness of the muscular layer of the entire esophagus is observed. b Squamous cell carcinoma extending from the cervical to the middle esophagus (red line)

Fig. 3

Histopathological findings (area enclosed by the dashed red line in Fig. 2b). a, b Hematoxylin and eosin (H&E) staining findings. The wall thickening is attributable to the thickness of the muscular layer (area enclosed by the dashed black line). The esophageal tumor is a squamous cell carcinoma. c, d α-smooth muscle actin [α-SMA] staining findings. The increased thickness of the muscular layer is caused by the increased number of smooth muscle. e, f Cytokeratin 34βE12 staining findings. Squamous cell carcinoma invading the muscularis propria (blue arrow)