title: Relapsed childhood acute myeloid leukemia patient with inversion of chromosome 16 harboring a low FLT3 internal tandem duplication allelic burden and KIT mutations.
abstract: Inversion of chromosome 16 [inv(16)] has a good prognosis in acute myeloid leukemia (AML), but additional genetic aberrations influence the outcome. We herein describe the case of a 15-year-old Japanese boy with inv(16) harboring a low-allelic burden internal tandem duplication of FLT3 (FLT3-ITD) and KIT mutations. Conventional chemotherapy eradicated a clone with a low-allelic burden FLT3-ITD mutation, although another clone with a KIT mutation occurred 17 months later. Further investigation is necessary to identify AML with inv(16) conferring poor prognosis, to facilitate appropriate treatment with additional drugs, such as dasatinib or gemtuzumab ozogamicin.
authors.affiliation: Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
authors.forename: Ai
authors.initials: A
authors.lastname: Yamada
authors.affiliation: Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan. hiroshi_moritake@med.miyazaki-u.ac.jp.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Moritake
authors.affiliation: Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Kinoshita
authors.affiliation: Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawa
authors.affiliation: Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
authors.forename: Sachiyo
authors.initials: S
authors.lastname: Kamimura
authors.affiliation: Department of Pediatrics, Mie University Graduate School of Medicine, Mie, Japan.
authors.forename: Shotaro
authors.initials: S
authors.lastname: Iwamoto
authors.affiliation: Clinical Research Center, National Hospital Organization Nagoya Medical Center, Aichi, Japan.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Yamashita
authors.affiliation: Department of Pediatrics, National Kyushu Cancer Center, Fukuoka, Japan.
authors.forename: Jiro
authors.initials: J
authors.lastname: Inagaki
authors.affiliation: Department of Medical Support, Okayama University Hospital, Okayama, Japan.
authors.forename: Takahide
authors.initials: T
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics, Okayama University Graduate School of Medicine, Okayama, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Shimada
authors.affiliation: Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
authors.forename: Megumi
authors.initials: M
authors.lastname: Obara
authors.affiliation: Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nunoi
mesh_terms: D000293:Adolescent; D000483:Alleles; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D011379:Prognosis; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics*; D020080:Tandem Repeat Sequences
chemical_list: D012333:RNA, Messenger; D019009:Proto-Oncogene Proteins c-kit
keywords: FLT3-internal tandem duplication; KIT; acute myeloid leukemia; allelic burden; inv(16)