title: NOTCH1 mutation in a female with myeloid/NK cell precursor acute leukemia.
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.
authors: Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan. nshiba@showa.gunma-u.ac.jp
authors: Norio
authors: N
authors: Shiba
authors: Takashi
authors: T
authors: Kanazawa
authors: Myoung-ja
authors: MJ
authors: Park
authors: Haruna
authors: H
authors: Okuno
authors: Kazushi
authors: K
authors: Tamura
authors: Shota
authors: S
authors: Tsukada
authors: Yasuhide
authors: Y
authors: Hayashi
authors: Hirokazu
authors: H
authors: Arakawa
mesh_terms: D000970:Antineoplastic Agents; D001215:Asparaginase / Q000627:therapeutic use; D002648:Child; D018389:Codon, Nonsense; D036101:Cord Blood Stem Cell Transplantation; D005260:Female; D006801:Humans; D007694:Killer Cells, Natural; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000628:therapy; D051881:Receptor, Notch1 / Q000235:genetics*
chemical_list: D000970:Antineoplastic Agents; D018389:Codon, Nonsense; D051881:Receptor, Notch1; D001215:Asparaginase