A Case of Neurofibromatosis Type 1 with Multiple Rectal Carcinoids

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  • Yamaguchi Takashi
    Department of Surgery, National Hospital Organization Kyoto Medical Center
  • Minamiguchi Sachiko
    Department of Pathology, National Hospital Organization Kyoto Medical Center
  • Yamato Toshio
    Department of Surgery, National Hospital Organization Kyoto Medical Center
  • Uehiro Natsue
    Department of Surgery, National Hospital Organization Kyoto Medical Center
  • Hata Hiroaki
    Department of Surgery, National Hospital Organization Kyoto Medical Center
  • Ogiso Satoshi
    Department of Surgery, National Hospital Organization Kyoto Medical Center
  • Otani Tetsushi
    Department of Surgery, National Hospital Organization Kyoto Medical Center
  • Tsuchiya Nobuyuki
    Department of Surgery, National Hospital Organization Kyoto Medical Center
  • Koizumi Kinya
    Department of Surgery, National Hospital Organization Kyoto Medical Center

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  • 多発性直腸カルチノイドを合併した神経線維腫症１型の１例

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Abstract

A 43-year-old woman with neurofibromatosis type 1 (NF1) reporting hematochezia was found in colonoscopy to have a few small submucosal nodules in the lower rectum, confirmed from a locally resected specimen to be carcinoid tumor. Abdominal computed tomography (CT) showing a 3 cm mass in the rectal posterior wall and a 3.5 cm mass in the ileocolic mesentery, necessitated low anterior rectum resection and ileocolic tumor excision. Histological diagnosis showed both tumors to be plexiform neurofibromas. Ten carcinoids 1 to 6 mm in diameter were found in the resected rectum with lymph-node metastasis. In patients with NF1, neurofibromas may be present in the abdominal cavity. Carcinoid tumors may arise in the periampullary area but rarely in the rectum. We present a case with NF1 accompanying abdominal plexiform neurofibromas and multiple rectal carcinoids.

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