Epstein-Barr virus-associated B-cell lymphoproliferative disorder meeting the definition of CAEBV B cell disease: a case report

• Published in: BMC infectious diseases 2023-07, Vol.23 (1), p.453-453, Article 453
• Main Authors: Ma, Yaxian, Bao, Yuhan, Zheng, Miao
• Format: Article
• Language: English
• Subjects: B cell; Biopsy; Bone marrow; Care and treatment; Case Report; Case reports; Causes of; Chronic active Epstein-Barr virus infection; Chronic infection; Complications and side effects; Diagnosis; Disease; Environmental factors; Epstein-Barr virus; Epstein-Barr virus diseases; Families & family life; Genetic disorders; Hospitals; Hybridization; Immune system; Immunology; Infections; Infectious diseases; Kinases; Lymphatic diseases; Lymphatic system; Lymphocytes; Lymphocytes B; Lymphocytes T; Lymphoid tissue; Lymphoproliferative disorder; Lymphoproliferative disorders; Missense mutation; Mononucleosis; Mutation; Next-generation sequencing; Patients; PIK3CD; Signs and symptoms; Stem cell transplantation; T cell receptors; Tumors; Viruses
• ISSN: 1471-2334; 1471-2334
• DOI: 10.1186/s12879-023-08430-6

Chronic active Epstein-Barr virus infection (CAEBV) is a systemic EBV-positive lymphoproliferative disorder (EBV-LPD) considered to be associated with a genetic immunological abnormality, although its cause is still unclear. EBV is usually detected in T cells or NK cells in CAEBV patients with only a few cases involving B cells described in East Asia, which may be due to differences in genetic and environmental factors. A 16-year-old boy who seemed to be diagnosed as CAEBV of B cell type was studied. The patient had IM-like symptoms persisting for more than 3 months, high levels of EBV DNA in the PB, and positive EBER in situ hybridization in B cells. In addition, to exclude underlying genetic disorders, we performed next-generation sequencing (NGS) and whole-exome sequencing (WES), which identified the missense mutation in PIK3CD (E1021K), ADA (S85L) and CD3D (Q140K) in the patient while no same genetic mutation was detected in his parents and sister. However, there is no diagnosis of CAEBV of B cell type in the most recent World Health Organization classification of tumors of hematopoietic and lymphoid tissues, therefore we finally diagnosed this patient as EBV-B-LPD. This study shows a rare case of a patient meeting the definition of CAEBV B-cell disease in East Asia. Meanwhile, the case indicates that the missense mutation and the disease are related.