Scientific Letters
Vol. 18 No. 1 (2026): Mediterranean Journal of Hematology and Infectious Diseases

Simultaneous presentation of Hemophagocytic Lymphohistiocytosis and Classical Hodgkin's Lymphoma in a patient with underlying germline homozygous STXBP2 Mutation.

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Published: April 30, 2026
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Hemophagocytic lymphohistiocytosis (HLH) is a severe, life-threatening, hyperinflammatory syndrome characterised by excessive immune activation that leads to multi-organ failure. HLH can be primary (genetic, common in paediatrics) or secondary (triggered by infections, autoimmune diseases, or malignancies, such as Hodgkin's lymphoma). We report a challenging case of a young adult presenting with HLH, subsequently diagnosed with Classical Hodgkin's lymphoma (CHL), and ultimately found to have a homozygous mutation in syntaxin-binding protein 2 (STXBP2) linked to familial hemophagocytic lymphohistiocytosis (FHL). This case highlights the complex interplay between immune mechanisms and malignancy.

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Citations

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Dr Amrita Rajendran , Holy Spirit Hospital, Mumbai,

Consultant Histopathologist, Department of Pathology, Holy Spirit Hospital, Mumbai, Maharashtra, India,

Dr Akanksha Chichra , ACTREC, Tata Memorial Hospital, Mumbai

Associate Professor Medical Oncology, Department of Bone Marrow Transplant, ACTREC, Tata Memorial Hospital, Mumbai, Maharashtra, India

Dr Ayubali Qureshi, Millat Nursing Home, Mumbai,

Consultant Physician, Department of Medicine, Millat Nursing Home, Mumbai, Maharashtra, India

How to Cite



“Simultaneous presentation of Hemophagocytic Lymphohistiocytosis and Classical Hodgkin’s Lymphoma in a patient with underlying germline homozygous STXBP2 Mutation”. (2026) Mediterranean Journal of Hematology and Infectious Diseases, 18(1), p. e2026043. doi:10.4084/MJHID.2026.043.