ArticleGlobal medical genetics2026
Epstein-Barr virus-associated T/NK-cell lymphoproliferative diseases with heterozygous
Article in Global medical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: To summarise the clinical and familial characteristics of two patients with Epstein-Barr virus (EBV)-associated T/NK-cell lymphoproliferative diseases carrying heterozygous Methods: We retrospectively analysed the clinical courses, pathological findings, flow cytometry results, EBV detection in sorted cell populations, genetic testing results, and familial segregation data of the two patients, supplemented by a review of the relevant literature. Results: Patient 1 was a 34-year-old man who presented with fever, gastrointestinal bleeding, and multiple colonic ulcers. EBV was predominantly detected in NK cells, followed by persistent expansion of abnormal NK cells, bone marrow involvement, and progression to NK/T-cell lymphoma complicated by haemophagocytic lymphohistiocytosis. Genetic testing identified a heterozygous Conclusion: Both adult patients with EBV-associated T/NK-cell lymphoproliferative diseases carried a single heterozygous missense variant in
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