Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: Case report

Džoljić, Eleonora; Stošić-Opinćal, Tatjana; Skender-Gazibara, Milica; Terzić, Tatjana; Mihaljević, Biljana; Milivojević, G; Kostić, Vladimir

doi:10.2298/sarh1502063d

Cited by 5 publications

(4 citation statements)

References 22 publications

(23 reference statements)

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“…Molecular genetic testing is the best way to differentiate between primary and secondary HLH (Janka 1983). The causes of secondary HLH include the following: severe infection (usually viral), malignancy (such as lymphoma), rheumatologic disorders (such as juvenile idiopathic arthritis), and immune deficiency states (such as Griscelli syndrome type 2 and Chediak-Higashi syndrome) (Henter et al 1993;Menasche et al 2000;Dzoljic et al 2015;An et al 2017).…”

Section: Introductionmentioning

confidence: 99%

Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review

et al. 2018

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Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. For the first time in the literature, we report on a 5-year-old girl diagnosed with a Component of Oligomeric Golgi Complex 6 (COG6) gene defect complicated by HLH. Finally, we review the literature on inborn errors of metabolism associated with HLH and compare the previously reported patients of COG6 gene defect with our patient.

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Section: Introductionmentioning

confidence: 99%

Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review

et al. 2018

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“…Without using known leukemogenic agents, one patient carrying a heterozygous UNC13D variant developed AML 15 . One patient with a heterozygous PRF1 variant progressed to primary aggressive DLBL 16 . STX11 gene mutations may be linked with secondary malignancies (MDS/AML) 17 .…”

Section: Discussionmentioning

confidence: 99%

Pediatric secondary CML in a patient with HLH carrying UNC13D , LYST and ITK variant

Huang

Luo

et al. 2022

Preprint

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Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening disease. This case report describes a secondary chronic myelogenous leukemia (CML) in a nine-year-old male after treatment with a combination of etoposide (VP16), steroids and cyclosporin for HLH. VP16 can potentially induce leukemia, and single nucleotide polymorphisms may be involved in the pathogenesis of CML. We speculate that genetic backgrounds combined with chemotherapeutic drugs lead to secondary CML. This case report alerts physicians to the importance of genetic screening and the rare side effects of VP16 in children with HLH.

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“…Chang et al16 reported 1 patient with a heterozygous UNC13D variant who progressed to acute monoblastic leukemia with an MLL-AF9 fusion gene, without any use of known leukemogenic agents. Eleonora Džoljić et al17 also reported 1 patient carrying a heterozygous PRF1 variant who developed primary aggressive diffuse large B-cell lymphoma without any use of known leukemogenic agents. Notably, 1 of the patient’s brother diagnosed with fulminate malignancy and died before confirmation of any gene defects while his another brother died of HLH with genetically confirmed PRF1 defect 17.…”

Section: Discussionmentioning

confidence: 99%

“…Eleonora Džoljić et al17 also reported 1 patient carrying a heterozygous PRF1 variant who developed primary aggressive diffuse large B-cell lymphoma without any use of known leukemogenic agents. Notably, 1 of the patient’s brother diagnosed with fulminate malignancy and died before confirmation of any gene defects while his another brother died of HLH with genetically confirmed PRF1 defect 17. The patient in our case report carried a heterozygous STXBP2 variant and developed APL with a relatively low cumulative dosage of etoposide, adding support to the link between heterozygous variants of genes in cytolytic pathway and leukemia.…”

Section: Discussionmentioning

confidence: 99%

Secondary Leukemia in a Patient With EBV-HLH Carrying Heterozygous STXBP2 Variant

Liao

2021

Journal of Pediatric Hematology/Oncology

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Hemophagocytic lymphohistiocytosis (HLH) is a symptom with severe systemic hyperinflammation. A 26-month-old male presented with Epstein-Barr virus associated HLH with a heterozygous variant of syntaxin-binding protein-2 (STXBP2). Complete remission was achieved with the HLH-2004 protocol, but the disease soon relapsed. Four weeks after re-installing HLH-2004 protocol, HLH was resolved. The cumulative dosage of etoposide was 2100 mg/m2. He developed acute promyelocytic leukemia 17 months later. The patient underwent standard chemotherapy and since remained in complete remission. In conclusion, a regular screening of malignance might be in necessity for the patients harboring gene variants associated with familial HLH.

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Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: Case report

Abstract: This case points at the presence of HLH and diffuse large B-cell PCNSL in brothers. Extensive assessment of patients with probable PCNSL and familial HLH is necessary, including genetic analysis for HLH.

Cited by 5 publications

References 22 publications

Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review

Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review

Pediatric secondary CML in a patient with HLH carrying UNC13D , LYST and ITK variant

Secondary Leukemia in a Patient With EBV-HLH Carrying Heterozygous STXBP2 Variant

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