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Diagnosis of Klinefelter syndrome in the donor after peripheral blood stem cell transplantation

Bone Marrow Transplantation volume 25, page 461 (2000)Cite this article

A 35-year-old male was diagnosed with AML-M2 according to the FAB classification in December 1997. Karyotype analysis of the bone marrow did not reveal any chromosomal aberrations at diagnosis. He entered complete remission after one course of induction therapy which included high doses of Ara-C on days 7 and 8 as recommended by the Polish Acute Leukaemia Group for patients not showing adequate blast reduction upon aspiration bone marrow biopsy on day 6 of induction treatment. HLA typing performed on the patient and his 37-year-old brother revealed full histocompatibility. Further treatment of the patient consisted of two courses of consolidation and one course of maintenance chemotherapy. In July 1998 he underwent allogeneic peripheral blood stem cell transplant after standard Bu/Cy 2 conditioning. Stem cells were mobilised into the blood with 10 μg of G-CSF per kg of body weight per day and collected with Fenwall CS 3000+ cell separator 12 h after the fourth and fifth dose of G-CSF. Neutrophil engraftment was observed on day +23 post transplant and the patient was discharged from the transplant unit on day 38 post transplant due to delayed platelet engraftment. His post-transplant course was further complicated by CMV reactivation that required immunoglobulin and ganciclovir treatment. Cytogenetic analysis of the bone marrow of the patient on day 100 post transplant showed karyotype 47,XXY in all 30 metaphases studied. To confirm the diagnosis of Klinefelter syndrome in the donor, the patient's brother had his lymphocytes karyotyped and the same abnormality was revealed. The donor's medical history was not significant apart from delayed descent of one testis in early childhood and precocious puberty.1 The donor reached normal height and normal body proportions. The physical examination showed a small-sized penis and testes with normal tertiary sex attributes. No formal IQ test has been carried out but we have been informed that the donor has minor mental problems and that mental retardation had been suggested in the past. The donor refused any further examinations. At present, the patient remains in complete remission of his leukaemia (10 months post transplant) and complete donor chimerism is present as proven by karyotype, change in ABO blood groups and VNTR. It is of note, though, that chromosomal aberrations, and among them Klinefelter's syndrome may predispose to haematologic malignancies.23 It may be advisable to perform cytogenetic analysis in donors showing any symptoms of congenital disorders. Nevertheless, the aberration found in the donor's karyotype may serve as a useful marker for chimerism monitoring in the transplanted patient.

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  1. Department of Haematology, University Medical School, Glańsk, Poland

    K Hałaburda, M Bieniasszewska & A Hellmann

  2. Department of Biology and Genetics, University Medical School, Glańsk, Poland

    I Brożek & J Limon

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  1. K Hałaburda
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  2. M Bieniasszewska
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Hałaburda, K., Bieniasszewska, M., Brożek, I. et al. Diagnosis of Klinefelter syndrome in the donor after peripheral blood stem cell transplantation. Bone Marrow Transplant 25, 461 (2000). https://doi.org/10.1038/sj.bmt.1702182

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