Patient #5254
A 3-month-old male was diagnosed with SDS. Because of recent dysphagia, at 48 years of age, he underwent esogastroduodenal endoscopy that revealed a moderately differentiated esophageal squamous cell carcinoma. The disease was localized without metastases. Treatment with a neoadjuvant radio- and chemotherapy (FOLFOX) preceded Mc Keown esophagogastrectomy. Histopathological studies showed a well-differentiated and mature squamous cell carcinoma limited to the muscle layer, without vascular, nerve or lymph-node involvement, and with healthy surgical margins (pT2N0M0). Four months later, during routine postoperative monitoring, he developed bilateral pleural effusions. Thoracentesis revealed a cancer-free chylous liquid. The thoracic duct was ligated laparoscopically due to unresponsiveness to medical treatment. One week later, the patient became febrile with acute respiratory distress. Pseudomonas stutzeri colonies were isolated from his left pleural effusion. Despite broad-spectrum antibiotics, G-CSF use, assisted ventilation and hemodynamic support, he died at the age of 49 due to multiorgan failure following a rapidly unfavorable course. NGS of cancer cells showed a pathogenic TP53 variant (c.638G>A; p.Arg213Gln), with an 18% variant-allele fraction (VAF), and a pathogenic HRAS mutation (c.175G>A; p.Ala59Thr), with a 5% VAF.