Successful bone marrow transplantation for treatment of chronic myeloid leukemia from a donor with mosaic klinefelter syndrome

Ismail, Said I.; Qubbaj, Wafa; Kilani, Mohammad; Hijazi, Miza; Abdelnour, Amid; Al-Khateeb, Mohammed S.; Awidi, Abdalla

doi:10.1007/bf03006936

Cited by 2 publications

(1 citation statement)

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“…These analyses identify indirectly the karyotype of donor cells. Various types of constitutional abnormalities of karyotype have been reported to be transmitted after allogeneic hematopoietic stem cell transplantation as shown in Table 1 (Graze et al 1977; Becher et al 1986; Kuffel et al 1991; Barquinero et al 1995; Halaburda et al 2000; Moore et al 2005; Manola et al 2006; Ismail et al 2007; Balci et al 2008; Frey et al 2008; Consoli et al 2011). All donors with Down syndrome were identified before stem cell donations as the manifestations of Down syndrome were evident.…”

Section: Discussionmentioning

confidence: 99%

Donor-derived 47, XXY in an unrelated cord blood transplant recipient

et al. 2014

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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.

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