title: Coexistence of t(15;17) and t(15;16;17) detected by fluorescencein situhybridization in a patient with acute promyelocytic leukemia: A case report and literature review.
abstract: Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), which results in the fusion of the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid α-receptor (RARA) gene at 17q21. The current study presents the case of a 54-year-old female with APL carrying the atypicalPML/RARAfusion signal due to a novel complex variant translocation t(15;16;17)(q22;q24;q21), as well as the classicalPML/RARAfusion signal. Subsequent array comparative genomic hybridization revealed somatic, cryptic deletions on 3p25.3, 8q23.1 and 12p13.2-p13.1, and a duplication on 8q11.2; however, no genetic material loss or gain was observed in the breakpoint regions of chromosomes 15, 16 or 17. To the best of our knowledge, this is the first report of the coexistence of two abnormal clones, one classical and one variant, presenting simultaneously in addition to cryptic chromosome segmental imbalances in an adult APL patient.
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA ; Department of Hematology, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning 110001, P.R. China.
authors.forename: Rui
authors.initials: R
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
authors.forename: Young-Mi
authors.initials: YM
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
authors.forename: Xianfu
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Hematology, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning 110001, P.R. China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
authors.forename: Hui
authors.initials: H
authors.lastname: Pang
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA ; Department of Pathology, College of Medicine, Korea University, Seoul 136-705, Republic of Korea.
authors.forename: Ji-Yun
authors.initials: JY
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
keywords: acute promyelocytic leukemia; array comparative genomic hybridization; fluorescence in situ hybridization; promyelocytic leukemia/retinoic acid α-receptor; variant translocation