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T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia

Bone Marrow Transplantation volume 47, pages 744–746 (2012)Cite this article

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited BM failure syndrome characterized by severe thrombocytopenia with reduced or absent megakaryocytes in the BM, absence of physical anomalies and progression into aplastic anemia and secondary myeloid malignancies. It is caused by a mutation in the c-mpl gene, resulting in a complete loss or altered function of the TPO receptor.

If untreated, CAMT is a fatal disease with mortality of patients early in life secondary to hemorrhages and/or development of myelodysplasia and AML. The only present curative treatment of this disease is hematopoietic SCT (HSCT). The treatment of choice is transplantation from a matched-related donor. Transplantation from unrelated donors has been reported but carries an increased risk of rejection, GVHD and transplant-related morbidity.1, 2 We report three patients with CAMT (Table 1); all received a T-cell-depleted transplant from an unrelated donor. All three patients engrafted successfully, had minimal transplant-related toxicities and no evidence of GVHD.

Table 1 Patient and transplant characteristics
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Acknowledgements

We would like to thank the nurse practitioners in the pediatric bone marrow transplantation service at Memorial Sloan-Kettering Cancer Center for their outstanding patient care, and Joseph Olechnowicz (editor; department of Pediatrics, Memorial Sloan-Kettering Cancer Center) for his review of the article.

Author contributions: Nidale Tarek and Farid Boulad collected and analyzed the data and wrote the manuscript. Nancy A Kernan, Susan E Prockop, Andromachi Scaradavou, Trudy N Small and Richard J O'Reilly revised and approved the final manuscript.

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  1. Department of Pediatrics, Bone Marrow Transplant Service, Memorial Sloan-Kettering Cancer Center, New York, NY, USA

    N Tarek, N A Kernan, S E Prockop, A Scaradavou, T N Small, R J O'Reilly & F Boulad

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  1. N Tarek
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Correspondence to F Boulad.

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Tarek, N., Kernan, N., Prockop, S. et al. T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia. Bone Marrow Transplant 47, 744–746 (2012). https://doi.org/10.1038/bmt.2011.142

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