Matsumoto Hideki, Ozeki Michio, Hori Tomohiro, Kanda Kaori, Kawamoto Norio, Nagano Akihito, Azuma Eiichi, Miyazaki Tatsuhiko, Fukao Toshiyuki
*Department of Pediatrics, Gifu Prefectural General Medical Center Departments of †Pediatrics ‡Orthopedic Surgery ∥Pathology, Gifu University Graduate School of Medicine, Gifu University, Gifu §Department of Pediatrics and Cell Transplantation, Mie University Graduate School of Medicine, Tsu, Japan.
J Pediatr Hematol Oncol. 2016 Nov;38(8):e322-e325. doi: 10.1097/MPH.0000000000000509.
Kasabach-Merritt phenomenon (KMP) is a life-threatening consumptive coagulopathy associated with underlying kaposiform hemangioendothelioma (KHE) in infancy. We describe the case of a 3-month-old girl with KHE complicated by KMP who responded dramatically to treatment with everolimus, a mechanistic target of rapamycin (mTOR) inhibitor. Immunohistochemical expression of mTOR was found in the KHE biopsy specimens, which may explain the improvement of KMP and reduction in KHE tumor size with mTOR inhibitor treatment. This effective use of everolimus may shed light on the emerging role of mTOR signaling in the development and pathogenesis of KHE and KMP.
卡萨巴赫-梅里特现象（KMP）是一种危及生命的消耗性凝血病，与婴儿期潜在的卡波西样血管内皮瘤（KHE）相关。我们描述了一名3个月大患KHE并伴有KMP的女孩的病例，她对雷帕霉素机制靶点（mTOR）抑制剂依维莫司治疗反应显著。在KHE活检标本中发现了mTOR的免疫组化表达，这可能解释了mTOR抑制剂治疗后KMP的改善以及KHE肿瘤大小的减小。依维莫司的这种有效应用可能有助于揭示mTOR信号在KHE和KMP的发生发展及发病机制中的新作用。
