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Review
. 2018 Feb 27:9:368.
doi: 10.3389/fimmu.2018.00368. eCollection 2018.

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

Affiliations
Review

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

Thomas Magg et al. Front Immunol. .

Abstract

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.

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Figures

Figure 1
Figure 1
Radiology and histology of Epstein–Barr virus positive (EBV+) smooth muscle tumors. (A) Abdominal magnetic resonance image (T1 fat-sat post contrast medium) shows solid liver tumors involving segments I and V–VIII (arrows). (B) Cranial magnetic resonance image (T2 sagittal) displays a tumor in the medulla oblongata (arrow). (C) Low-power (50×) examination of a colon biopsy shows a prominent nodular cellular proliferation in the mucosa and submucosa (D) High-power (400×) magnification displays fascicles of fusiform spindle cells with abundant eosinophilic cytoplasm and elongated or ovoid nuclei without significant atypia or mitoses suggesting a mesenchymal neoplasia of smooth muscle origin (E). Immunohistochemistry for smooth muscle actin (200×) confirms the smooth muscle nature of the tumor (F). EBV association is demonstrated by in situ hybridization for EBV-encoded RNA (EBER) in the same lesion (200×). Inlet displays positive cells with EBER in darkly stained basophilic nuclei (arrows) and negative cells with faint eosinophilic nuclei (arrowheads).

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