title: Molecular genetic and cytogenetic analysis of a primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma.
abstract: We performed cytogenetic and molecular cytogenetic analyses of a primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma, a rare type of primary cutaneous T-cell lymphoma. G-banded analysis at initial diagnosis and recurrence revealed complex karyotype and clonal evolution reflecting genomic instability that parallels the aggressive clinical course observed. Spectral karyotyping revealed numerous structural abnormalities. SNP array-based analysis of an initial diagnostic sample revealed numerous gains and losses of chromosomal material, including loss of short arm of the chromosome 17, to which TP53 is mapped. The molecular cytogenetics and array data of this case suggest genomic instability, particularly chromosomal instability and haploinsufficiency for TP53, the latter possibly giving rise to alteration of p14ARF-Mdm2-p53 tumor suppressor protein pathway, likely to be associated with unfavorable clinical course.
authors.affiliation: Division of Pediatric Hematology and Oncology, Ibaraki Children's Hospital, Futaba-dai 3-3-1, Mito, Ibaraki, 311-4145, Japan. k-kato@ibaraki-kodomo.com.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Kato
authors.affiliation: Department of Pediatrics, Jichi Medical University School of Medicine, Shimotsuke, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Oh
authors.affiliation: Department of Cell Therapy and Transplantation, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Takita
authors.affiliation: Department of Pediatrics, Jichi Medical University School of Medicine, Shimotsuke, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Gunji
authors.affiliation: Division of Pediatric Hematology and Oncology, Ibaraki Children's Hospital, Futaba-dai 3-3-1, Mito, Ibaraki, 311-4145, Japan.
authors.forename: Chie
authors.initials: C
authors.lastname: Kobayashi
authors.affiliation: Division of Pediatric Hematology and Oncology, Ibaraki Children's Hospital, Futaba-dai 3-3-1, Mito, Ibaraki, 311-4145, Japan.
authors.forename: Ai
authors.initials: A
authors.lastname: Yoshimi
authors.affiliation: Division of Pediatric Hematology and Oncology, Ibaraki Children's Hospital, Futaba-dai 3-3-1, Mito, Ibaraki, 311-4145, Japan.
authors.forename: Tomohei
authors.initials: T
authors.lastname: Nakao
authors.affiliation: Division of Cardiovascular Surgery, Ibaraki Children's Hospital, Mito, Japan.
authors.forename: Mio
authors.initials: M
authors.lastname: Noma
authors.affiliation: Division of Pediatric Hematology and Oncology, Ibaraki Children's Hospital, Futaba-dai 3-3-1, Mito, Ibaraki, 311-4145, Japan.
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Koike
authors.affiliation: Department of Pediatrics, Jichi Medical University School of Medicine, Shimotsuke, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Morimoto
authors.affiliation: Division of Dermatology, Mito Saiseikai Hospital, Mito, Japan.
authors.forename: Shigeko
authors.initials: S
authors.lastname: Iijima
authors.affiliation: Division of Pathology, Fukushima Prefectural University Hospital, Fukushima, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hojo
authors.affiliation: Division of Pediatric Hematology and Oncology, Ibaraki Children's Hospital, Futaba-dai 3-3-1, Mito, Ibaraki, 311-4145, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Tsuchida
mesh_terms: D016827:CD8 Antigens; D002648:Child; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D042822:Genomic Instability; D006801:Humans; D016410:Lymphoma, T-Cell, Cutaneous / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D032681:Spectral Karyotyping; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: D016827:CD8 Antigens; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53
keywords: Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma; SNP array analysis; Spectral karyotyping