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Updated: Jun 10, 2026

Integration of Bioinformatics Approaches and Experimental Validations to Understand the Role of Notch Signaling in Ovarian Cancer
Published on: January 12, 2020
NOTCH1 mutation in a female with myeloid/NK cell precursor acute leukemia
Norio Shiba1, Takashi Kanazawa, Myoung-ja Park
1Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan. nshiba@showa.gunma-u.ac.jp
Abstract:
A 6-year-old Japanese female was diagnosed as having myeloid/NK cell precursor acute leukemia (MNKL) using immunocytochemical analysis. The patient was treated by cord blood transplantation from an HLA 1-locus mismatched unrelated donor after chemotherapy comprising cytosine arabinoside, idarubicin, etoposide, and L-asparaginase. We detected a nonsense mutation, C7412A, resulting in S2471X, where X is a terminal codon, in the PEST domain of NOTCH1 in this patient. The presence of the NOTCH1 activating mutation in MNKL might suggest a possible role in the leukemogenesis of MNKL.
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