A case of von recklinghausen disease complicated with sigmoid colon cancer and gastrointestinal stromal tumor of the small intestine

Abstract

We report our experience of treatment of von Recklinghausen disease (NF1) complicated with sigmoid colon carcinoma and small intestinal gastrointestinal stromal tumor (GIST). Many reports on GIST complicated with the NF1 are available. Abnormality in the c-kit gene has been thought to be associated with the onset of both the diseases. However, there are few reports of colon cancer complicated with NF1, and it has been thought to be an accidental complication. In our case, both colon cancer and GIST were regarded to have developed due to a mutation in the NF1 gene. NF1 is one of the frequent hereditary diseases. Therefore, in patients with NF1, and their families, careful gastrointestinal examination seems necessary.