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.