[A Case of Stage ⅣRectal Cancer with Dyskeratosis Congenita]

A 27-year-old man was diagnosed with dyskeratosis congenita from DKC1 gene mutation at 9 years of age and had been followed-up regularly.An upper gastrointestinal endoscopy performed for vomiting revealed gastric varices.Further examination resulted in a diagnosis of Stage Ⅳrectal cancer with portal hypertension, splenomegaly, liver, and lung metastasis and he was referred to our department.A laparoscopic splenectomy was performed, followed by a laparoscopic low anterior resection for rectal cancer.Subsequently, resection of the pulmonary and liver metastasis was performed, resulting in macroscopic radical resection.However, 3 months after the hepatectomy, unresectable multiple lung metastasis was detected and he received 5 courses of chemotherapy with cetuximab.A grade 3 skin rash was observed and chemotherapy was discontinued. After 5 courses, he had pneumothorax and received drainage.He had sudden respiratory failure 2 days after pleural adhesion therapy of OK-432 was performed.He was diagnosed with interstitial pneumonia induced by OK-432 and steroid pulse therapy, which resulted in his death without improvement 21 days after admission.