Epstein-Barr virus (EBV) -related Hodgkin lymphoma in a 1-year-old child with DiGeorge syndrome

This paper Reported a Epstein-Barr virus (EBV) -Related Pulmonary Hodgkin Lymphoma in 1-Year-Old Child with DiGeorge Syndrome (Chromosome 22q11.2 Deletion), which was one of the youngest patient reported to develop lymphoma due to this syndrome. The 1-year-old infant was plagued by recurrent infections, concurrent with cardiac malformations and thymic hypoplasia. The pulmonary infection exhibited a remarkably rapid progression. Initially identified as mild interstitial-alveolar inflammation, it swiftly progressed into multiple lung nodules. Laboratory investigations further disclosed T cell defects, which presumably contributed to the child’s immunocompromised condition. Moreover, there was clear evidence of EBV virus infection, and the EBV DNA copy number progressively increased over time. Crucially, thoracoscopic biopsy of the lung nodules showed Reed-Sternberg (R-S) cells on HE staining, with positive immunohistochemical staining for CD30 and in situ hybridization for EBER, strongly supporting the diagnosis of Hodgkin lymphoma. Finally, Whole-Exome Sequencing revealed a copy number deletion of approximately 2.63 Mb at chromosome 22q11.21. In conclusion, this case emphasizes that for children with recurrent severe infections, early immune evaluation, timely genetic examinations and comprehensive tumor screenings are crucial for early precise diagnosis.