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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Abnormalities, Multiple* / genetics
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Abnormalities, Multiple* / therapy
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Child, Preschool
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DNA-Binding Proteins / genetics*
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Face / abnormalities*
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Female
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Genetic Predisposition to Disease*
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Hematologic Diseases* / genetics
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Hematologic Diseases* / therapy
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Histone Demethylases / genetics*
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Humans
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Kidney Neoplasms* / genetics
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Kidney Neoplasms* / therapy
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Neoplasm Proteins / genetics*
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Nuclear Proteins / genetics*
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Point Mutation*
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Vestibular Diseases* / genetics
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Vestibular Diseases* / therapy
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Wilms Tumor* / genetics
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Wilms Tumor* / therapy
Substances
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DNA-Binding Proteins
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KMT2D protein, human
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Neoplasm Proteins
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Nuclear Proteins
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Histone Demethylases
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KDM6A protein, human