ArticleHaematologica2013
Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations.
Article in Haematologica, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 39 citations in OpenAlex.
- Genetic and clinical characteristics of 54 pediatric lymphoma patients with variant mutation sites ofHaematologica · 2026Article
- Histiocytoses and reactive proliferations of histiocytes: current state of the art and evolving concepts-a report from the joint CSHP-EA4HP-SH workshop 2024, Hefei, China.Virchows Archiv : an international journal of pathology · 2026Review
- Simultaneous Presentation of Hemophagocytic Lymphohistiocytosis and Classical Hodgkin's Lymphoma in a Patient with Underlying Germline Homozygous STXBP2 Mutation.Mediterranean journal of hematology and infectious diseases · 2026Article
- Hemophagocytic Lymphohistiocytosis in the Context of Hematological Malignancies and Solid Tumors.Advances in experimental medicine and biology · 2024Review
- Late-onset Familial Hemophagocytic Lymphohistiocytosis in a survivor of Hodgkin's Lymphoma.Leukemia research reports · 2024Article
- Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (Frontiers in immunology · 2023Article
- Dilemmas in the diagnosis and pathogenesis of atypical late-onset familial haemophagocytic lymphohistiocytosis.Clinical & translational immunology · 2021Article
- Article
- Haemophagocytic lymphohistiocytosis occurred during induction chemotherapy in an acute monocytic leukemia patient with FLT3-ITD and DNMT3A mutations.BMC cancer · 2018Article
- Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.Oncology letters · 2017Article
- A systematic review of malignancy-associated hemophagocytic lymphohistiocytosis that needs more attentions.Oncotarget · 2017Review
- CD58 mutations are common in Hodgkin lymphoma cell lines and loss of CD58 expression in tumor cells occurs in Hodgkin lymphoma patients who relapse.Genes and immunity · 2016Article
- Microenvironment abnormalities and lymphomagenesis: Immunological aspects.Seminars in cancer biology · 2015Review
- Consensus recommendations for the diagnosis and management of hemophagocytic lymphohistiocytosis associated with malignancies.Haematologica · 2015Article
- Perforin and granzymes: function, dysfunction and human pathology.Nature reviews. Immunology · 2015Review
- Perforinopathy: a spectrum of human immune disease caused by defective perforin delivery or function.Frontiers in immunology · 2013Review
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Experimental model systems have delineated an important role for cytotoxic lymphocytes in the immunosurveillance of cancer. In humans, perforin-deficiency has been associated with occurrence of hematologic malignancies. Here, we describe an Epstein-Barr virus-positive classical Hodgkin's lymphoma in a patient harboring biallelic mutations in STXBP2, a gene required for exocytosis of perforin-containing lytic granules and associated with familial hemophagocytic lymphohistocytosis. Cytotoxic T lymphocytes were found infiltrating the tumor, and a high frequency of Epstein-Barr virus-specific cytotoxic T lymphocytes were detected in peripheral blood. However, lytic granule exocytosis and cytotoxicity by cytotoxic T lymphocytes, as well as natural killer cells, were severely impaired in the patient. Thus, the data suggest a link between defective lymphocyte exocytosis and development of lymphoma in STXBP2-deficient patients. Therefore, with regards to treatment of familial hemophagocytic lymphohistocytosis patients with mutations in genes required for lymphocyte exocytosis, it is important to consider both the risks of hemophagocytic lymphohistocytosis and malignancy.
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