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.

Inversion 3 Cytogenetic Abnormality in an Allogeneic Hematopoietic Cell Transplant Recipient Representative of a Donor-Derived Constitutional Abnormality

“…Malignancies reported to be transmitted include AML, chronic myelogenous leukemia, lymphoma, and mycosis fungoides [12][13][14][15][16]. Several welldocumented cases involving constitutional cytogenetic abnormalities have been reported, with some authors describing cases of relapsed disease showing abnormal posttransplantation karyotypes [17][18][19][20]. The nonmalignant aberrations include three main categories of balanced translocation rearrangements, including Robertsonian translocations, reciprocal translocations, and inversions.…”

Constitutional Chromosomal Abnormality Identified in a Sibling Donor After Bone Marrow Stem Cell Transplantation in a Pediatric Patient with Acute Megakaryoblastic Leukemia

“…Although donor-derived leukemia and myelodysplastic syndrome are rare complications of SCT, several well-documented cases involving constitutional cytogenetic abnormalities of donor cells were reported [ 8 , 9 ]. Other authors have described cases of relapsed patients showing abnormal post-transplant karyotypes [ 3 , 10 ].…”