Itsukuma Takeyoshi, Ishikawa Hideki, Misawa Mahito, Kai Shunro, Fujimori Yoshihiro, Nakagawa Kazuhiko, Hirota Seiichi, Sugihara Ayako, Terada Nobuyuki, Hara Hiroshi
Division of Hematology-Oncology, Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya, Japan.
J Gastroenterol. 2007 May;42(5):402-5. doi: 10.1007/s00535-007-2009-0. Epub 2007 May 25.
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by colonic polyposis and a predisposition for developing colorectal cancer. FAP is frequently complicated by extracolonic disease, but complications of leukemia are rare. We present the first case of FAP complicated by chronic myelogenous leukemia (CML) in a 38-year-old man. The patient had numerous adenomas in the colorectum and a family history compatible with FAP. He was diagnosed as having FAP in February 2000. Two years after the diagnosis, he developed leukocytosis with the Philadelphia chromosome abnormality, indicating complication with CML. Imatinib mesylate was administered for the treatment of CML, and hematologic and cytogenetic remission of CML was achieved in 6 months. Numerous polyps, 2 to 3 mm in diameter, observed in the rectum prior to the administration of imatinib, regressed in size, but not in number, after 1 year of treatment with imatinib. Eighteen months later, however, the polyps were enlarged. In this patient, imatinib administration led to the remission of CML and might also have been responsible for the temporary regression of adenomatous polyps of FAP.
家族性腺瘤性息肉病（FAP）是一种常染色体显性疾病，其特征为结肠息肉病以及易患结直肠癌。FAP常伴有结肠外疾病，但白血病并发症罕见。我们报告首例38岁男性FAP合并慢性粒细胞白血病（CML）的病例。该患者在结直肠有大量腺瘤，且家族史符合FAP。他于2000年2月被诊断为FAP。诊断两年后，他出现白细胞增多并伴有费城染色体异常，提示合并CML。给予甲磺酸伊马替尼治疗CML，6个月时实现了CML的血液学和细胞遗传学缓解。在给予伊马替尼治疗前，在直肠观察到许多直径为2至3毫米的息肉，经过1年伊马替尼治疗后，息肉大小缩小，但数量未减少。然而，18个月后，息肉又增大了。在该患者中，伊马替尼治疗使CML缓解，也可能是FAP腺瘤性息肉暂时缩小的原因。
