title: Donor-derived 47, XXY in an unrelated cord blood transplant recipient.
abstract: A 65-year-old Japanese male with therapy-related myelodysplastic syndrome was admitted for unrelated cord blood transplantation. A cord blood unit from a male donor was obtained from the Japan Cord Blood Bank Network. The patient then received a conditioning regimen consisting of fludarabine, intravenous busulfan, and total body irradiation. Successful engraftment was obtained. The bone marrow examination on day 28 revealed trilineage engraftment, and chimerism analysis by variable number of tandem repeat polymerase chain reaction confirmed complete donor chimerism. At that time, conventional cytogenetics of the bone marrow aspirate showed 20 out of 20 metaphases with the 47, XXY karyotype characteristic of Klinefelter syndrome. Klinefelter syndrome is the most common genetic cause of human male infertility with a reported prevalence of 0.1-0.2% in the general population. In Japan Cord Blood Bank Network, there is no informed consent from parents about the possibility that post-unrelated cord blood transplantation patient evaluation may reveal donor-origin inherited diseases including cytogenetic abnormality. It is desirable to have opportunities in Japan discussing whether parents will be notified of the possibility that post-unrelated cord blood transplantation evaluation may reveal donor-derived illness incidentally.
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Kuniki
authors.initials: K
authors.lastname: Kawaguchi
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Nakamura
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Nohara
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Satoko
authors.initials: S
authors.lastname: Koteda
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Nomura
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Morishige
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Eijiro
authors.initials: E
authors.lastname: Oku
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Rie
authors.initials: R
authors.lastname: Imamura
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Mouri
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Ritsuko
authors.initials: R
authors.lastname: Seki
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Osaki
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Michitoshi
authors.initials: M
authors.lastname: Hashiguchi
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Kohji
authors.initials: K
authors.lastname: Yoshimoto
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Nagafuji
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011 Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Okamura
keywords: Chromosomal abnormalities; Cord blood; Donor-derived; Hematopoietic stem cell; Transplantation