Outcome of colorectal cancer in Diamond–Blackfan syndrome with a ribosomal protein S19 mutation

• DOI: 10.1007/s12328-020-01176-7
• Publication Date: 2020-07-08T18:03:33Z
• Authors: Kazuya Kimura; Kazuhiro Shimazu; Tsutomu Toki; Momoko Misawa; Koji Fukuda; Taichi Yoshida; Daiki Taguchi; Sho Fukuda; Katunori Iijima; Naoto Takahashi; Etsuro Ito; Hiroshi Nanjyo; Hiroyuki Shibata
• Keywords: Diamond–Blackfan anemia

Diamond-Blackfan anemia is an autosomal dominant syndrome, characterized by anemia and a predisposition for malignancies. Ribosomal proteins are responsible for this syndrome, and the incidence of colorectal cancer in patients with this syndrome is higher than the general population. This patient's Diamond-Blackfan anemia was caused by a novel ribosomal protein S19 gene mutation, and he received chemotherapy for colorectal cancer caused by it. In his cancer, ribosomal proteins S19 and TP53 were overexpressed. He received 5FU and cetuximab; however, his anemia made chemotherapy difficult, and he did not survive long. Patients with Diamond-Blackfan anemia should be screened earlier and more often for colorectal cancer than usual.