title: Epstein-Barr virus-associated adrenal smooth muscle tumors and disseminated diffuse large B-cell lymphoma in a child with common variable immunodeficiency: a case report and review of the literature.
abstract: This article reports the clinical and the histological features in a 7-year-old girl affected by common variable immunodeficiency (CVID) who developed multiple Epstein-Barr virus-associated tumors, represented by bilateral adrenal smooth muscle tumors (EBV-SMT) and multifocal diffuse large B-cell lymphoma. The EBV-SMTs showed features compatible with a benign or at least a low-malignant potential neoplasm. A peculiar feature observed in both EBV-SMTs was the occurrence of numerous lymphocytes intermingled with the spindle cells, which consisted of CD3+ CD5+ T-cells, with a predominant cytotoxic CD8+ component. Interestingly, EBV status differed in the neoplasms, since the EBV-SMTs were negative for LMP1 and positive for EBER, whereas the B-cell lymphoma expressed both EBV markers. Furthermore, EBV-LMP1 deletion was positive only in the EBV-SMTs, thus indicating that these tumors were the consequence of 2 distinct, EBV-dependent transformations. Similarly, lymphocyte clonality assay also showed different clonal bands in different sites (skin and nasal cavity), suggesting the development of intratumoral mutations. Finally, the authors review all 127 previously reported EBV-SMT, with discussion of their clinical and pathological features.
authors: University of Brescia, Brescia, Italy.
authors: Giulia
authors: G
authors: Petrilli
authors: University of Brescia, Brescia, Italy.
authors: Luisa
authors: L
authors: Lorenzi
authors: University of Brescia, Brescia, Italy.
authors: Roberto
authors: R
authors: Paracchini
authors: Hospital of Piacenza, Piacenza, Italy.
authors: Alessandro
authors: A
authors: Ubiali
authors: University of Brescia, Brescia, Italy.
authors: Richard Fabian
authors: RF
authors: Schumacher
authors: University of Brescia, Brescia, Italy.
authors: Paolo
authors: P
authors: Cabassa
authors: University of Brescia, Brescia, Italy facchett@med.unibs.it.
authors: Fabio
authors: F
authors: Facchetti
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000150:complications / Q000473:pathology*; D002648:Child; D017074:Common Variable Immunodeficiency / Q000150:complications / Q000473:pathology*; D020031:Epstein-Barr Virus Infections / Q000150:complications / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D004854:Herpesvirus 4, Human; D006801:Humans; D016403:Lymphoma, Large B-Cell, Diffuse / Q000150:complications / Q000473:pathology*; D018235:Smooth Muscle Tumor / Q000150:complications / Q000473:pathology*