BACKGROUND Diffuse large B-cell lymphoma(DLBCL)is a common aggressive non-Hodgkin's lymphoma(NHL),accounting for 30%-40%of adult NHLs.This report aims to explore the efficacy and safety of rituximab combined with ...BACKGROUND Diffuse large B-cell lymphoma(DLBCL)is a common aggressive non-Hodgkin's lymphoma(NHL),accounting for 30%-40%of adult NHLs.This report aims to explore the efficacy and safety of rituximab combined with Bruton tyrosine kinase inhibitors(BTKis)in the treatment of elderly patients with DLBCL.CASE SUMMARY The clinical data of two elderly patients with DLBCL who received rituximab combined with BTKi in our hospital were retrospectively analyzed,and the literature was reviewed.The patients were treated with chemotherapy using the R-miniCHOP regimen for two courses.Then,they received rituximab in combination with BTKi.CONCLUSION The treatment experience in these cases demonstrates the potential efficacy of rituximab combined with BTKi to treat elderly DLBCL patients,thus providing a new treatment strategy.展开更多
BACKGROUND X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton’s tyrosine kinase(BTK).We found a new mutation point and summarized the correlation analysis and perform...BACKGROUND X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton’s tyrosine kinase(BTK).We found a new mutation point and summarized the correlation analysis and performed a literature review.CASE SUMMARY The proband was a 5-year-old boy.He was admitted to our hospital due to a recurrent cough and a fever that had persisted for a month.He had a history of multiple respiratory infections and sinusitis.There was no immunodeficiency or recurrent infection history among his family members.Agammaglobulinemia was characterized as follows:Immunoglobulin(Ig)A,90.0 mg/dL(90-450 mg/dL);IgG,20.0 mg/dL(800-1800 mg/dL);and IgM,18.0 mg/dL(60-280 mg/dL).Notably,the assessment of IgG subtypes revealed the following very low levels:Subtype 1,0.26 g/L(3.62-12.28 g/L);subtype 2,0.10 g/L(0.57-2.9 g/L);subtype 3,0.009 g/L(0.129-0.789 g/L);and subtype 4,0.003 g/L(0.013-1.446 g/L).Cellular immunological test results were as follows:CD3,74.6%(50%-84.0%);CD4,47.3%(27.0%-51.0%);and CD8,24.9%(15.0%-44.0%).A de novo hemizygous deletion in BTK was detected:c.902_c.904delAAG/p.E301del.Transcript levels of the mutant BTK were similar to those of the wild-type gene,though overexpression resulted in markedly reduced levels of mutant BTK(9.49%±1.58%),relative to the wildtype BTK(75.8%±2.98%,P<0.01).CONCLUSION This case of X-linked agammaglobulinemia was attributed to a de novo hemizygous deletion mutation in BTK(c.902_c.904delAAG/p.E301del).The mutation resulted in markedly reduced BTK protein stability in vitro.展开更多
文摘BACKGROUND Diffuse large B-cell lymphoma(DLBCL)is a common aggressive non-Hodgkin's lymphoma(NHL),accounting for 30%-40%of adult NHLs.This report aims to explore the efficacy and safety of rituximab combined with Bruton tyrosine kinase inhibitors(BTKis)in the treatment of elderly patients with DLBCL.CASE SUMMARY The clinical data of two elderly patients with DLBCL who received rituximab combined with BTKi in our hospital were retrospectively analyzed,and the literature was reviewed.The patients were treated with chemotherapy using the R-miniCHOP regimen for two courses.Then,they received rituximab in combination with BTKi.CONCLUSION The treatment experience in these cases demonstrates the potential efficacy of rituximab combined with BTKi to treat elderly DLBCL patients,thus providing a new treatment strategy.
基金National Natural Science Foundation of China,No. 11571309the Zhejiang Health Bureau Fund,No. 2016ZHA004。
文摘BACKGROUND X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton’s tyrosine kinase(BTK).We found a new mutation point and summarized the correlation analysis and performed a literature review.CASE SUMMARY The proband was a 5-year-old boy.He was admitted to our hospital due to a recurrent cough and a fever that had persisted for a month.He had a history of multiple respiratory infections and sinusitis.There was no immunodeficiency or recurrent infection history among his family members.Agammaglobulinemia was characterized as follows:Immunoglobulin(Ig)A,90.0 mg/dL(90-450 mg/dL);IgG,20.0 mg/dL(800-1800 mg/dL);and IgM,18.0 mg/dL(60-280 mg/dL).Notably,the assessment of IgG subtypes revealed the following very low levels:Subtype 1,0.26 g/L(3.62-12.28 g/L);subtype 2,0.10 g/L(0.57-2.9 g/L);subtype 3,0.009 g/L(0.129-0.789 g/L);and subtype 4,0.003 g/L(0.013-1.446 g/L).Cellular immunological test results were as follows:CD3,74.6%(50%-84.0%);CD4,47.3%(27.0%-51.0%);and CD8,24.9%(15.0%-44.0%).A de novo hemizygous deletion in BTK was detected:c.902_c.904delAAG/p.E301del.Transcript levels of the mutant BTK were similar to those of the wild-type gene,though overexpression resulted in markedly reduced levels of mutant BTK(9.49%±1.58%),relative to the wildtype BTK(75.8%±2.98%,P<0.01).CONCLUSION This case of X-linked agammaglobulinemia was attributed to a de novo hemizygous deletion mutation in BTK(c.902_c.904delAAG/p.E301del).The mutation resulted in markedly reduced BTK protein stability in vitro.
