Teranishi Hideto, Koga Yuhki, Nakashima Kentaro, Morihana Eiji, Ishii Kanako, Sakai Yasunari, Taguchi Tomoaki, Oda Yoshinao, Miyake Noriko, Matsumoto Naomichi, Ohga Shouichi
Departments of Pediatrics.
Department of Pediatric Surgery, Faculty of Medical Sciences, Kyushu University, Fukuoka.
J Pediatr Hematol Oncol. 2018 Jul;40(5):391-394. doi: 10.1097/MPH.0000000000001111.
A 3-year-old Japanese girl treated for hypoplastic left heart syndrome and Dandy-Walker syndrome was diagnosed with Kabuki syndrome (KS) with a mutation of KMT2D; c.13285C>T:p.Q4429*. Concurrently, macrohematuria portended the diagnosis of Wilms tumor. Postoperative chemotherapy has achieved complete remission despite a prolonged and reduced regimen due to liver dysfunction and convulsions. Cancer predisposition has been suggested for KS due to oncogenic mutations in KMT2D or KDM6A. The first case of nephroblastoma exemplified the treatability of malignancies in KS patients, as shown in the 9 cases reviewed. Active screening and intervention are recommended for the cure of malignancy in KS children.
一名患有左心发育不全综合征和Dandy-Walker综合征的3岁日本女孩被诊断为歌舞伎综合征（KS），其KMT2D基因发生突变；c.13285C>T:p.Q4429*。同时，肉眼血尿预示着威尔姆斯瘤的诊断。尽管由于肝功能障碍和惊厥导致化疗方案延长且剂量减少，但术后化疗已实现完全缓解。由于KMT2D或KDM6A中的致癌突变，有人提出KS患者有癌症易感性。如所回顾的9例病例所示，首例肾母细胞瘤病例证明了KS患者恶性肿瘤的可治疗性。建议对KS儿童进行积极筛查和干预以治愈恶性肿瘤。
