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Resolution of Multifocal Epstein-Barr Virus-Related Smooth Muscle Tumor in a Patient with GATA2 Deficiency Following Hematopoietic Stem Cell Transplantation

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Abstract

We performed allogeneic hematopoietic stem cell transplantation in a patient with GATA2 deficiency and an Epstein-Barr virus (EBV)-related spindle cell tumor involving the liver and possibly bone. He received a matched-related donor transplant with donor peripheral blood stem cells following a myeloablative conditioning regimen. He achieved rapid and high levels of donor engraftment and had complete reversal of the clinical and immunologic phenotype of MonoMAC/GATA2 deficiency and eradication of the EBV tumors after 3 years of follow-up. Thus, allogeneic hematopoietic stem cell transplant results in reconstitution of immunologic function and cure of EBV-associated malignancy in MonoMAC/GATA2 deficiency.

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Acknowledgments

This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract no. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. This research was supported by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research, and by the National Institute of Allergy and Infectious Diseases.

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Authors and Affiliations

  1. Clinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., NCI Campus at Frederick, Frederick, MD, 21702, USA

    Mark Parta

  2. Department of Infectious Diseases, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, Mexico City, Mexico

    Jennifer Cuellar-Rodriguez

  3. Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

    Alexandra F. Freeman & Steven M. Holland

  4. Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

    Juan Gea-Banacloche & Dennis D. Hickstein

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  1. Mark Parta
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  2. Jennifer Cuellar-Rodriguez
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  3. Alexandra F. Freeman
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  4. Juan Gea-Banacloche
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  5. Steven M. Holland
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  6. Dennis D. Hickstein
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Correspondence to Mark Parta.

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The authors declare that they have no conflict of interest.

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Key Points

• Allogeneic transplant for EBV malignancies

• Correction of EBV malignancies

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Parta, M., Cuellar-Rodriguez, J., Freeman, A.F. et al. Resolution of Multifocal Epstein-Barr Virus-Related Smooth Muscle Tumor in a Patient with GATA2 Deficiency Following Hematopoietic Stem Cell Transplantation. J Clin Immunol 37, 61–66 (2017). https://doi.org/10.1007/s10875-016-0360-8

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  • DOI: https://doi.org/10.1007/s10875-016-0360-8

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