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NOTCH1 mutation in a female with myeloid/NK cell precursor acute leukemia
Author(s) -
Shiba Norio,
Kanazawa Takashi,
Park Myoungja,
Okuno Haruna,
Tamura Kazushi,
Tsukada Shota,
Hayashi Yasuhide,
Arakawa Hirokazu
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22758
Subject(s) - medicine , myeloid leukemia , idarubicin , etoposide , myeloid , cancer research , nonsense mutation , mutation , cord blood , leukemia , immunology , cytarabine , chemotherapy , gene , missense mutation , genetics , biology
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. Pediatr Blood Cancer. 2010;55:1406–1409. © 2010 Wiley‐Liss, Inc.