Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.

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.

• Authors: Hideto Teranishi, Yuhki Koga, Kentaro Nakashima, Eiji Morihana, Kanako Ishii, Yasunari Sakai, Tomoaki Taguchi, Yoshinao Oda, Noriko Miyake, Naomichi Matsumoto, Shouichi Ohga
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 40 Issue 5 Pg. 391-394 (07 2018) ISSN: 1536-3678 [Electronic] United States
• PMID: 29489735 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• DNA-Binding Proteins
• KMT2D protein, human
• Neoplasm Proteins
• Nuclear Proteins
• Histone Demethylases
• KDM6A protein, human

Topics

• Abnormalities, Multiple (genetics, therapy)
• Child, Preschool
• DNA-Binding Proteins (genetics)
• Face (abnormalities)
• Female
• Genetic Predisposition to Disease
• Hematologic Diseases (genetics, therapy)
• Histone Demethylases (genetics)
• Humans
• Kidney Neoplasms (genetics, therapy)
• Neoplasm Proteins (genetics)
• Nuclear Proteins (genetics)
• Point Mutation
• Vestibular Diseases (genetics, therapy)
• Wilms Tumor (genetics, therapy)