• Internal medicine · Dec 2021

    Case Reports

    Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations.

    • Ken Murakami, Yuuta Yamaguchi, Yuko Kida, Yoichiro Morikawa, Hidetoshi Ujiie, Hiroyuki Sugahara, Yasuhito Nannya, Seishi Ogawa, and Yuzuru Kanakura.
    • Department of Hematology, Sumitomo Hospital, Japan.
    • Intern. Med. 2021 Dec 1; 60 (23): 3785-3788.

    AbstractCongenital mutations of the Wilms' tumor 1 (WT1) gene can lead to various abnormalities, including renal/gonadal developmental disorders and cardiac malformations. Although there have been many reports of somatic WT1 mutations in patients with acute myeloid leukemia and myelodysplastic syndrome, congenital WT1 mutations have not been reported in hematological disorders. We herein report a patient with early-onset clonal cytopenia of undetermined significance that was associated with a congenital mutation of WT1 and an acquired mutation of DNMT3A [encoding DNA (cytosine-5)-methyltransferase 3A].

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