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

Front Immunol. 2018 Feb 27;9:368. doi: 10.3389/fimmu.2018.00368. eCollection 2018.


Epstein-Barr virus positive (EBV+) smooth muscle tumors (SMTs) constitute a very rare oncological entity. They usually develop in the context of secondary immunodeficiency caused by human immunodeficiency virus infection or immunosuppressive treatment after solid organ transplantation. However, in a small fraction of predominantly pediatric patients, EBV+ SMTs may occur in patients with primary immunodeficiency disorders (PIDs), such as GATA2 and CARMIL2 deficiency. In secondary immunodeficiencies and when the underlying condition can not be cured, the treatment of EBV+ SMTs is based on surgery in combination with antiretroviral and reduced or altered immunosuppressive pharmacotherapy, respectively. Importantly, without definitive reconstitution of cellular immunity, long-term survival is poor. This is particularly relevant for patients with EBV+ SMTs on the basis of PIDs. Recently, allogeneic hematopoietic stem cell transplantation resulted in cure of immunodeficiency and EBV+ SMTs in a GATA2-deficient patient. We propose that in the absence of secondary immunodeficiency disorders patients presenting with EBV+ SMTs should be thoroughly evaluated for PIDs. Allogeneic hematopoietic stem cell transplantation should be taken into consideration, ideally in the setting of a prospective clinical trial.

Keywords: CARMIL2; Epstein–Barr virus; GATA2; allogeneic hematopoietic stem cell transplantation; primary immunodeficiency disorder; secondary immuno-deficiency disorder; smooth muscle tumor.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Anti-Retroviral Agents / therapeutic use*
  • Epstein-Barr Virus Infections / immunology*
  • Hematopoietic Stem Cell Transplantation*
  • Herpesvirus 4, Human / physiology*
  • Humans
  • Immunologic Deficiency Syndromes / immunology*
  • Immunologic Deficiency Syndromes / therapy
  • Immunosuppressive Agents / therapeutic use
  • Muscle, Smooth / pathology*
  • Smooth Muscle Tumor / immunology*
  • Smooth Muscle Tumor / therapy


  • Anti-Retroviral Agents
  • Immunosuppressive Agents