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Objective:To improve the clinical recognition of hereditary fibrinogen deficiency.Methods:The diagnosis and treatment process of a patient with acute promyelocytic leukemia (APL) complicated with hereditary fibrinogen deficiency who was admitted to the second Affiliated Hospital of Anhui Medical University in December 2018 was retrospectively analyzed, and the relevant literature was reviewed.Results:The patient was initially diagnosed as APL, and the complete remission was obtained after dual-induction therapy of all-trans retinoid acid and arsenous acid. During the first consolidation treatment, repeated reviews of fibrinogen fluctuated between 1.0-1.5g/L, and further improving the fibrinogen gene sequencing to diagnose APL combined with hereditary fibrinogen deficiency.Conclusion:For APL patients in remission who have decreased fibrinogen for many times and patients with hereditary fibrinogen deficiency who have significantly decreased fibrinogen in a short period, bone marrow biopsy and genetic testing should be further conducted to determine the pathogenesis.
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Objective:To explore the safety and efficacy of chimeric antigen receptor T-cell (CAR-T) therapy for relapsed/refractory acute B-cell lymphoblastic leukemia (B-ALL) with T315I mutation.Methods:The clinical data of a patient with relapsed/refractory B-ALL with T315I mutation who underwent CAR-T therapy in the Second Affiliated Hospital of Anhui Medical University was analyzed, and the related literature was reviewed.Results:The patient was a 34-year-old man. He was diagnosed with chronic myelogenous leukemia (CML) in January 2017 and started to take imatinib orally. However, the primary affection transformed to B-ALL 4 months later. Because of the E355G gene mutation, the treatment drug was adjusted to dasatinib, and induction chemotherapy was given at the same time. The sequential consolidation chemotherapy was given for 3 times after complete remission (CR). After half a year of remission, T315I mutation was detected and re-induced chemotherapy was given, but ineffective. The patient was treated with CAR-T 3 days after FC regimen (fludarabine 30 mg/m 2 per day, day 1 to day 3; cyclophosphamide 200 mg/m 2, day 1 to day 3). The number of CD19 CAR-T was 1.0×10 9, 98% activity degree. Grade 1 cytokine-releasing syndrome appeared after infusion, and was resolved after symptomatic treatment. No serious adverse reactions were observed. CR was achieved half-month after CAR-T treatment, and umbilical cord blood transplantation was successfully performed 1 month later. At the last follow-up, the relapse-free survival time of the patient was 396 days. Conclusion:CAR-T therapy may be a new, safe and effective therapy for patients with relapsed/refractory B-ALL with T315I mutation.
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ObjectiveTo explore clinical characteristics and diagnosis of patients with granulocytic sarcoma (GS),and to evaluate the value of FCM in diagnosing it.MethodsClinical data of one patient with GS was reviewed and related literature was reviewed. ResultsThe patient was diagnosed as AML-M2,chromosomal karyotype was 46.XY, t (8;21)(q22;q22)and the AML/ETO gene was positive. Systemic chemotherapy with daunorubicin plus cytarabine was given and complete remission was received. Then a nodular in medial angle of right eye was found. Result of CT indicated the possibility of leukemia infiltration.Needle aspiration cytology was conducted and many blast cells were found by microscope.CD34+ CD117+ CD13+ CD33+CD45dim SSC+ can be found by FCM. The cytology was complete remission and minimal residual disease was negative. Finally diagnosis was GS, relapse of AML. After a systemic chemotherapy with large dose of cytarabine plus teniposide (cytarabine 6.0 g/d, d1-3;teniposide 50 mg/d, d1-3), the mass could not be touched and the follow-up was continued.Conclusion Although relapse of AML often occurs in the testicle or the central nervous system,it pay attention to the possibility of relapse of AML presenting as GS.Fine needle aspiration cytology(FNAC)combined with FCM can provide an convenient, handy, practicable and less invasive way of the diagnosis and can be a preferred detection technique.
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Objective To investigate the relationship between the single nucleotide polymorphism of aminoimidazole carbexamide ribonucleotide transformylase gene and the efficacy and toxicity of methotrexate treatment in rheumatoid arthritis. Methods Total of 359 patients with RA were divided into mono-therapy with MTX group, combination therapy with other DMARDs group and other DMARDs combination with no MTX treatment group. The clinical and laboratory measurements were evaluated before therapy and 12, 24 weeks after therapy. Efficacy (evaluated by ACR20) and side effects of the drugs were also assessed. Real-time fluorescent quantitative PCR was conducted to test ATIC 347C/G mutation in RA patients and 340 healthy controls. Results There was no statistical significant difference in 347 CC, CG, GG between RA patients and healthy controls. In the MTX mono-therapy group (n=107), 72% (n=77) there was no statistical significant difference in 347CC, CG, GG between patients with good response and patients without efficacy. 32.7%(n=35) of these patients experienced adverse drug reactions. The ATIC G allele carriers (22.4%) experienced a greater frequency of side effects than the CC carriers (OR=2.672, 95%CI, 1.27～5.59, P<0.05). In MTX combined with other DMARDs group (n=128) and other DMARDs combination without MTX group (n=90), the polymorphism in the ATIC gene was not associated with good clinical response and adverse events (P>0.05). Conclusion There is no statistical significant difference between RA and healthy controls in the ATIC347 gene. Polymorphism in the ATIC gene is not associated with clinical response to MTX treatment, but the ATIC347 G allele is associated with MTX toxicity. It maybe used to predict the adverse drug reactions of patients who take MTX.
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Objective To study the relationship between systemic lupus erythematosus (SLE) and human cytomegalovirus (HCMV) infection.Methods HCMV was isolated from the peripheral blood leucocytes (PBL) of 63 patients with SLE.Indirect immunofluorescence (IIF) was performed to investigate HCMV pp65 antigen and polymerase chain reaction (PCH) was performed to investigate the expression of HCMV UL54 DNA in cell cultures.The clinical and Iaboratory parameters were also assessed.Results The rate of HCMV infection in SLF patients was higher than that in the healthy controls and SLE patients.It was higher in the active phase than in the inactive phase.The total amount of urine protein in 24 houm collection,ESR,SLEDA1,preyalence of arthritis and some autoantibodies were considerably higher in patients with positive HCMV infection than those with negative HCMV infection.Conclusion The HCMV infection rate in SLE patients is higher than healthy controls.HC:MV infection may contribute to the disease flare in some SLE pahents.