Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review. Issue 5 (July 2018)

• Record Type: Journal Article
• Authors: Teranishi, Hideto; Koga, Yuhki; Nakashima, Kentaro; Morihana, Eiji; Ishii, Kanako; Sakai, Yasunari; Taguchi, Tomoaki; Oda, Yoshinao; Miyake, Noriko; Matsumoto, Naomichi; Ohga, Shouichi
• Is Part Of: Journal of pediatric hematology/oncology. Volume 40:Issue 5(2018)
• Publication Date: 2018-07
• Subjects: Kabuki syndrome -- nephroblastoma -- cancer predisposition -- cancer management; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001111
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : 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.