title: The clinical utility of genetic testing for t(8;16)(p11;p13) in congenital acute myeloid leukemia.
abstract: Acute myeloid leukemia (AML) with t(8;16)(p11;p13) is known to have very poor prognosis in adults. In contrast, the prognosis is not clear in pediatric patients and chemotherapy is generally started immediately in cases of congenital leukemia because of its association with hyperleukocytosis and poor prognosis. This study reports a case of congenital AML where chemotherapy was discontinued after detection of a MOZ-CBP fusion, which remains in remission without additional treatment. This article stresses the importance of examination for the presence of the MOZ-CBP fusion at diagnosis to inform treatment decisions in congenital AML.
authors.affiliation: *Department of Pediatrics, Graduate School of Medicine §Department of Clinical Application, Center for iPS Cell Research and Application ∥Human Health Sciences, Graduate School of Medicine, Kyoto University †Ijinkai Takeda General Hospital ‡Department of Molecular Diagnostics and Therapeutics, Kyoto Prefectural University of Medicine Graduate School of Medical Science, Kyoto, Japan.
authors.forename: Tomoo
authors.initials: T
authors.lastname: Daifu
authors.forename: Itaru
authors.initials: I
authors.lastname: Kato
authors.forename: Kagehiro
authors.initials: K
authors.lastname: Kozuki
authors.forename: Katsutsugu
authors.initials: K
authors.lastname: Umeda
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Hiramatsu
authors.forename: Ken-Ichiro
authors.initials: K
authors.lastname: Watanabe
authors.forename: Ichiro
authors.initials: I
authors.lastname: Kamiya
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Taki
authors.forename: Tatsutoshi
authors.initials: T
authors.lastname: Nakahata
authors.forename: Toshio
authors.initials: T
authors.lastname: Heike
authors.forename: Souichi
authors.initials: S
authors.lastname: Adachi
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D015470:Leukemia, Myeloid, Acute / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011379:Prognosis; D012333:RNA, Messenger / Q000235:genetics; D012074:Remission Induction; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: C470260:MOZ-CBP fusion protein, human; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger