消化管病変を合併したvon Recklinghausen病

Gastrointestinal Disease Associated with von Recklinghausen Disease, Report of a Case

要旨●患者は50歳代後半，男性．20歳代後半時に，von Recklinghausen病と診断された．検診の腹部エコー検査で小腸に異常を指摘されたため，当科へ紹介，受診となった．腹部造影CT検査で，空腸に造影効果のある径30mmの腫瘤を指摘された．小腸内視鏡検査で，上部空腸に多発性粘膜下腫瘤様隆起を認めた．腹腔鏡下空腸部分切除術を施行した．病理組織学的には，束状に増殖する紡錘形細胞から構成される腫瘍で，これらの細胞は，KITおよびCD34を発現し，核分裂像は強拡大50視野あたり5未満であった．低リスク群のGISTと診断した．以後，経過観察し，現在まで6年間，無再発である．

　A 56-year-old man was diagnosed with von Recklinghausen disease at the age of 25. He was admitted to our hospital because of small intestinal wall thickening detected during screening abdominal ultrasonography. A 30-mm tumor of the jejunum was diagnosed using abdominal computed tomography. Double-balloon endoscopy revealed multiple submucosal tumor-like lesions in the jejunum. A laparoscopic partial resection of the jejunum was subsequently performed. Histologically, the tumor was composed of spindle cells with eosinophilic extracellular collagen globules. Neither high mitotic activity nor pleomorphism was detected in any sections. Immunohistochemically, the spindle cells were diffusely positive for KIT and CD34. The final diagnosis was GIST. The risk of recurrence was considered low in this patient. Thus, the patient's clinical status improved and ongoing follow-up revealed no recurrence for 6 years.