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Allogeneic stem cell transplantation from donors with mosaic Turner syndrome

Bone Marrow Transplantation volume 38, pages 385–386 (2006)Cite this article

Turner syndrome (TS) is a genetic disorder affecting 1/2500–3000 live-born females. It is characterized by the complete or partial absence of one of the X-chromosomes, and is frequently accompanied by mosaicism (45,X/46,XX). Its most consistent clinical features are short stature and ovarian failure. Loss of specific genes located on the X-chromosome are thought to be responsible for a range of disorders, including osteoporosis, hypothyroidism, diabetes mellitus (DM), cardiovascular and gastrointestinal diseases, ophthalmic disorders, as well as various immunological defects.1, 2 We report two cases of allogeneic stem cell transplantation (SCT) in which 45,X/46,XX stem cells derived from donors with mosaic TS were used.

Patient 1, a 27-year-old woman, had common acute lymphoblastic leukemia with an abnormal karyotype: 46,X,t(X;22)(p11.3;q12),t(2;16)(p11;q11)[15]/46,XX[5]. She underwent a consolidative allogeneic SCT after a busulfan–cyclophosphamide (Bu–Cy) conditioning regimen from her phenotypically human leukocyte antigen (HLA)-matched 2.5-year-old daughter. The post transplant course was unremarkable and mild acute and chronic graft-versus-host disease (GVHD) were seen. A routine cytogenetic study of the marrow at 6 months revealed 45,X[9]/46,XX[11]. To investigate the origin of 45,X cells, the donor's constitutional karyotype was evaluated, confirming a mosaic TS 45,X[15]/46,XX[5]. The disease relapsed at 9 months and cytogenetic analysis revealed 45,X[8]/46,X,t(X;22)(p11.3;q12),t(2;16)(p11;q11)[2]/46,XX[16]. A second allograft was performed from the same donor in second remission after total body irradiation-based conditioning and attenuated GVHD prophylaxis. The patient developed grade II acute GVHD again. The disease relapsed 5 months after the second allograft and the patient died of relapse.

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Authors and Affiliations

  1. Laboratory of Health Physics & Environmental Hygiene, Inst. NT-RP, National Center for Scientific Research (NCSR) ‘Demokritos’, Athens, Greece

    K N Manola & C Sambani

  2. Hematology and Lymphoma Department, Bone Marrow Transplantation Unit, ‘Evangelismos’ General Hospital, Athens, Greece

    D Karakasis & I Baltathakis

  3. Department of Internal Medicine, Hematology Division, Stem Cell Transplantation Unit, University of Patras Medical School, Patras, Greece

    N Zoumbos & A Symeonidis

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  1. K N Manola
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  2. C Sambani
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  3. D Karakasis
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  4. I Baltathakis
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  5. N Zoumbos
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  6. A Symeonidis
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Correspondence to K N Manola.

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Manola, K., Sambani, C., Karakasis, D. et al. Allogeneic stem cell transplantation from donors with mosaic Turner syndrome. Bone Marrow Transplant 38, 385–386 (2006). https://doi.org/10.1038/sj.bmt.1705456

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