title: Resolution of Multifocal Epstein-Barr Virus-Related Smooth Muscle Tumor in a Patient with GATA2 Deficiency Following Hematopoietic Stem Cell Transplantation.
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.
authors.affiliation: Clinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., NCI Campus at Frederick, Frederick, MD, 21702, USA. mark.parta@nih.gov.
authors.forename: Mark
authors.identifier: 0000-0003-0534-6759
authors.initials: M
authors.lastname: Parta
authors.affiliation: Department of Infectious Diseases, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, Mexico City, Mexico.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Cuellar-Rodriguez
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Alexandra F
authors.initials: AF
authors.lastname: Freeman
authors.affiliation: Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Juan
authors.initials: J
authors.lastname: Gea-Banacloche
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.affiliation: Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Dennis D
authors.initials: DD
authors.lastname: Hickstein
mesh_terms: D015415:Biomarkers; D020031:Epstein-Barr Virus Infections / Q000150:complications* / Q000821:virology; D050989:GATA2 Transcription Factor / Q000172:deficiency*; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods; D004854:Herpesvirus 4, Human / Q000235:genetics; D006801:Humans; D016130:Immunophenotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D000072078:Positron Emission Tomography Computed Tomography; D018235:Smooth Muscle Tumor / Q000175:diagnosis* / Q000209:etiology*; D013997:Time Factors; D018183:Transplantation Chimera; D014184:Transplantation, Homologous; D055815:Young Adult
chemical_list: D015415:Biomarkers; D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human
keywords: Epstein-Barr virus; GATA2