ABSTRACT
OBJECTIVE@#To analyze the gene polymorphisms of patients with lymphoma-associated hemophagocytic syndrome in Longyan area, Fujian province.@*METHODS@#A total of 125 patients with lymphoma-associated hemophagocytic syndrome in Longyan, Fujian province, admitted to Longyan First Hospital from May 2017 to November 2020 were selected. Peripheral venous blood was collected from all the patients, and the genotypes of perforin 1 (PRF1) and interleukin-10 (IL-10) gene loci were detected by PCR-fluorescence probe method, and the correlation between PRF1 and IL-10 gene polymorphisms and lymphoma-associated hemophagocytic syndrome was analyzed.@*RESULTS@#The mutation frequencies of PRF1 gene loci rs885821 (C>T), rs885822 (C>T), rs1889490 (G>A) in patients with lymphoma-associated hemophagocytic syndrome were 10.40%, 78.8% and 64.4%, respectively. The mutation frequencies of rs1800872 (A>C), rs1800871 (C>T) and rs1800896 (G>A) of IL-10 loci were 56.0%, 45.2% and 77.6%, respectively.@*CONCLUSION@#PRF1 and IL-10 gene loci were polymorphic in patients with lymphoma-associated hemophagocytic syndrome in Longyan area, Fujian province. Alleles C and G of PRF1 and IL-10 were risk factors, and alleles T and A were protective factors.
Subject(s)
Humans , Genotype , Interleukin-10/genetics , Lymphohistiocytosis, Hemophagocytic/genetics , Lymphoma/genetics , Perforin/genetics , Polymorphism, GeneticABSTRACT
Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is a highly stimulated and defective inflammatory response caused by genetic inheritance or acquired immune regulation abnormalities.Lymphoma-associated hemophagocytic syndrome (LAHS) is a malignancy-associated HLH secondary to lymphoma, with a high clinical misdiagnosis rate and fatality rate and poor prognosis.In this article, the pathogenesis, diagnosis and treatment of LAHS in children were reviewed, in order to increase clinician′s understanding of the disease.
ABSTRACT
Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is a highly stimulated and defective inflammatory response caused by genetic inheritance or acquired immune regulation abnormalities.Lymphoma-associated hemophagocytic syndrome (LAHS) is a malignancy-associated HLH secondary to lymphoma, with a high clinical misdiagnosis rate and fatality rate and poor prognosis.In this article, the pathogenesis, diagnosis and treatment of LAHS in children were reviewed, in order to increase clinician′s understanding of the disease.
ABSTRACT
Objective: To analyze the clinical features and treatment outcomes of patients with lymphoma-associated hemophagocytic syndrome (LAHS). Methods: Clinical data of 27 patients with LAHS diagnosed at Peking University Cancer Hospital between May 2007 and August 2014 were retrospectively analyzed. Results: Of the 27 patients, there were 18 males and 9 females, with a median age of 32 years (range: 14 to 77). At diagnosis of lymphoma, 17 patients (63.0%) were stage HI/IV, 8 (29.6%) had Eastern Cooperative Oncology Group (ECOG) performance status (PS) score 5≥2, 12 (46.2%) had International Prognostic Index (IPI) score 5≥3. The most common subtype was extranodal natural killer/T cell lymphoma (ENKTCL) (74.1%, 20/27). Three patients presented with hemophagocytic syndrome (HPS) at lymphoma diagnosis, while the other 24 patients developed HPS during lymphoma progression after failure of chemotherapy. The clinical features of HPS were persistent fever (100.0%), splenomegaly (88.9%), hepatomegaly (37.0%), lymph node enlargement (63.0%), cytopenia (100.0%), ferritin increased (92.6%), hypertriglyceridemia (55.6%), hypofibrinogenemia (55.6%), and hemophagocytosis in bone marrow (70.4%). After a median follow-up of 11.0 months (range: 0.3 to 66.0 months), 24 (88.9%) patients died, and 3 survived. The median overall survival (OS) after the diagnosis of lymphoma was 11 months, and the median OS after the diagnosis of HPS was 28 days. One patient receiving allogeneic hematopoietic stem cell transplantation (allo-HSCT) remained alive with complete remission for 53 months. Conclusion: The clinical manifestations of LAHS were complex, and the prognosis and survival time remain dismal. More effective therapeutic strategies should be develpoed, and allo-HSCT may provide survival benefts to LAHS.