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Literature DB >> 27924436

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

Mark Parta¹, Jennifer Cuellar-Rodriguez², Alexandra F Freeman³, Juan Gea-Banacloche⁴, Steven M Holland³, Dennis D Hickstein⁴.

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.

Entities: Chemical Disease Gene Mutation Species

Keywords: Epstein-Barr virus; GATA2

Mesh：

Substances：

Year: 2016 PMID： 27924436 PMCID： PMC6334651 DOI： 10.1007/s10875-016-0360-8

Source DB: PubMed Journal: J Clin Immunol ISSN： 0271-9142 Impact factor: 8.317

27 in total

1. Successful treatment with rituximab of an Epstein-Barr virus-associated leiomyosarcoma occurring after liver transplantation.

Authors: Hilary Jericho; Joanna Weinstein; Hector Melin-Aldana; Katrin C Leuer; Mary Wyers; Estella M Alonso; Udeme D Ekong
Journal: J Pediatr Gastroenterol Nutr Date: 2014-01 Impact factor: 2.839

2. Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

Authors: Jennifer Cuellar-Rodriguez; Juan Gea-Banacloche; Alexandra F Freeman; Amy P Hsu; Christa S Zerbe; Katherine R Calvo; Jennifer Wilder; Roger Kurlander; Kenneth N Olivier; Steven M Holland; Dennis D Hickstein
Journal: Blood Date: 2011-08-03 Impact factor: 22.113

3. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Authors: Amy P Hsu; Elizabeth P Sampaio; Javed Khan; Katherine R Calvo; Jacob E Lemieux; Smita Y Patel; David M Frucht; Donald C Vinh; Roger D Auth; Alexandra F Freeman; Kenneth N Olivier; Gulbu Uzel; Christa S Zerbe; Christine Spalding; Stefania Pittaluga; Mark Raffeld; Douglas B Kuhns; Li Ding; Michelle L Paulson; Beatriz E Marciano; Juan C Gea-Banacloche; Jordan S Orange; Jennifer Cuellar-Rodriguez; Dennis D Hickstein; Steven M Holland
Journal: Blood Date: 2011-06-13 Impact factor: 22.113

4. Epstein-Barr virus-associated smooth muscle tumors are distinctive mesenchymal tumors reflecting multiple infection events: a clinicopathologic and molecular analysis of 29 tumors from 19 patients.

Authors: Andrea T Deyrup; Victor K Lee; Charles E Hill; Wah Cheuk; Han Chong Toh; Sittampalam Kesavan; Errol Wei'en Chan; Sharon W Weiss
Journal: Am J Surg Pathol Date: 2006-01 Impact factor: 6.394

5. Infusion of cytotoxic T cells for the prevention and treatment of Epstein-Barr virus-induced lymphoma in allogeneic transplant recipients.

Authors: C M Rooney; C A Smith; C Y Ng; S K Loftin; J W Sixbey; Y Gan; D K Srivastava; L C Bowman; R A Krance; M K Brenner; H E Heslop
Journal: Blood Date: 1998-09-01 Impact factor: 22.113

6. The association of Epstein-Barr virus with smooth-muscle tumors occurring after organ transplantation.

Authors: E S Lee; J Locker; M Nalesnik; J Reyes; R Jaffe; M Alashari; B Nour; A Tzakis; P S Dickman
Journal: N Engl J Med Date: 1995-01-05 Impact factor: 91.245

7. Improved PCR method for detecting monoclonal immunoglobulin heavy chain rearrangement in B cell neoplasms.

Authors: I Ramasamy; M Brisco; A Morley
Journal: J Clin Pathol Date: 1992-09 Impact factor: 3.411

8. Olaratumab and doxorubicin versus doxorubicin alone for treatment of soft-tissue sarcoma: an open-label phase 1b and randomised phase 2 trial.

Authors: William D Tap; Robin L Jones; Brian A Van Tine; Bartosz Chmielowski; Anthony D Elias; Douglas Adkins; Mark Agulnik; Matthew M Cooney; Michael B Livingston; Gregory Pennock; Meera R Hameed; Gaurav D Shah; Amy Qin; Ashwin Shahir; Damien M Cronier; Robert Ilaria; Ilaria Conti; Jan Cosaert; Gary K Schwartz
Journal: Lancet Date: 2016-06-09 Impact factor: 79.321

9. Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

Authors: Emily M Mace; Amy P Hsu; Linda Monaco-Shawver; George Makedonas; Joshua B Rosen; Lesia Dropulic; Jeffrey I Cohen; Eugene P Frenkel; John C Bagwell; John L Sullivan; Christine A Biron; Christine Spalding; Christa S Zerbe; Gulbu Uzel; Steven M Holland; Jordan S Orange
Journal: Blood Date: 2013-01-30 Impact factor: 22.113

10. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Authors: Donald C Vinh; Smita Y Patel; Gulbu Uzel; Victoria L Anderson; Alexandra F Freeman; Kenneth N Olivier; Christine Spalding; Stephen Hughes; Stefania Pittaluga; Mark Raffeld; Lynn R Sorbara; Houda Z Elloumi; Douglas B Kuhns; Maria L Turner; Edward W Cowen; Danielle Fink; Debra Long-Priel; Amy P Hsu; Li Ding; Michelle L Paulson; Adeline R Whitney; Elizabeth P Sampaio; David M Frucht; Frank R DeLeo; Steven M Holland
Journal: Blood Date: 2009-12-29 Impact factor: 22.113

7 in total

1. Epstein-Barr virus-associated smooth muscle tumors in immunocompromised patients: Six case reports.

Authors: Afshin A Khan; Bassam N Estfan; Anirudh Yalamanchali; Djibril Niang; Erica C Savage; Clifton G Fulmer; Hailey L Gosnell; Jamak Modaresi Esfeh
Journal: World J Clin Oncol Date: 2022-06-24

Review 2. Germline GATA2 Mutation and Bone Marrow Failure.

Authors: Lisa J McReynolds; Katherine R Calvo; Steven M Holland
Journal: Hematol Oncol Clin North Am Date: 2018-05-28 Impact factor: 3.722

3. Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen.

Authors: Mark Parta; Nirali N Shah; Kristin Baird; Hind Rafei; Katherine R Calvo; Thomas Hughes; Kristen Cole; Meg Kenyon; Bazetta Blacklock Schuver; Jennifer Cuellar-Rodriguez; Christa S Zerbe; Steven M Holland; Dennis D Hickstein
Journal: Biol Blood Marrow Transplant Date: 2018-02-03 Impact factor: 5.742

4. Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency.

Authors: Diana X Nichols-Vinueza; Mark Parta; Nirali N Shah; Jennifer M Cuellar-Rodriguez; Thomas R Bauer; Robert R West; Amy P Hsu; Katherine R Calvo; Seth M Steinberg; Luigi D Notarangelo; Steven M Holland; Dennis D Hickstein
Journal: Br J Haematol Date: 2021-09-27 Impact factor: 8.615

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

1. Successful treatment with rituximab of an Epstein-Barr virus-associated leiomyosarcoma occurring after liver transplantation.

2. Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

3. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

4. Epstein-Barr virus-associated smooth muscle tumors are distinctive mesenchymal tumors reflecting multiple infection events: a clinicopathologic and molecular analysis of 29 tumors from 19 patients.

5. Infusion of cytotoxic T cells for the prevention and treatment of Epstein-Barr virus-induced lymphoma in allogeneic transplant recipients.

6. The association of Epstein-Barr virus with smooth-muscle tumors occurring after organ transplantation.

7. Improved PCR method for detecting monoclonal immunoglobulin heavy chain rearrangement in B cell neoplasms.

8. Olaratumab and doxorubicin versus doxorubicin alone for treatment of soft-tissue sarcoma: an open-label phase 1b and randomised phase 2 trial.

9. Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

10. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

1. Epstein-Barr virus-associated smooth muscle tumors in immunocompromised patients: Six case reports.

Review 2. Germline GATA2 Mutation and Bone Marrow Failure.

3. Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen.

4. Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency.

Review 5. Epstein-Barr Virus⁺ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders.

6. A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.

Review 7. GATA2 Deficiency and Epstein-Barr Virus Disease.

Review 2. Germline GATA2 Mutation and Bone Marrow Failure.

Review 5. Epstein-Barr Virus+ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders.

Review 7. GATA2 Deficiency and Epstein-Barr Virus Disease.

Review 5. Epstein-Barr Virus⁺ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders.