Esophageal Cancer in a Patient With Poland Syndrome

Poland syndrome is an uncommon congenital condition marked by the absence of major chest muscles, typically on one side. Individuals with congenital abnormalities such as Poland syndrome are at increased risk for cancer.

A 53-year-old male with undiagnosed Poland syndrome initially presented with dysphagia. The patient had a 20 pack-year smoking history but had quit smoking at the time of presentation. Endoscopic ultrasound showed a large obstructing mass in the distal third of the esophagus, and computed tomography (CT) scan showed an esophageal mass and congenital absence of the left pectoralis major and pectoralis minor muscles. Positron emission tomography-CT (PET-CT) showed a hypermetabolic mass with no evidence of distant metastases. The patient was treated with radiation, chemotherapy, and distal esophagectomy. PET-CT obtained nearly a year postoperatively showed no esophageal mass but some reactive hilar and mediastinal lymph nodes. The patient is monitored annually via CT imaging for recurrent or metastatic disease.

While Poland syndrome has been associated with various malignancies, to our knowledge, the occurrence of esophageal adenocarcinoma in a patient with Poland syndrome has not been previously reported.