Prognostic value of the t(14;18)(q32;q21) in patients with diffuse large B-cell lymphoma.

The prognostic significance of the t(14;18) in diffuse large B-cell lymphoma is still controversial. To assess the impact of the t(14;18) on patient survival, we investigated 26 patients with diffuse large B-cell lymphoma for the presence of t(14;18). The t(14;18) was detected in 90.9% of patients with high international prognostic index score. The five-year overall survival was 0.0% and 68.75% in positive and negative cases of t(14;18) respectively. The detection of the t(14;18) combined with the international prognostic index score is a useful strategy for more appropriate risk stratification and prediction of outcome of patients with diffuse large B-cell lymphoma.

JAK2, CALR, and MPL Mutations in Egyptian Patients With Classic Philadelphia-negative Myeloproliferative Neoplasms.

BACKGROUND: Genetic mutations have been proven to be one of the major criteria in the diagnosis and distinction of different myeloproliferative neoplasm (MPN) subtypes. Therefore, the aim of this study was to determine the molecular profile of Egyptian patients with MPN subtypes and correlate with clinicopathological status. METHODS: A series of 200 patients with MPNs (92 polycythemia vera, 68 essential thrombocythemia, and 40 primary myelofibrosis) were included in this study. DNA from each sample was amplified using polymerase chain reaction to detect Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations. Sanger sequencing was used to determine the mutation types. RESULTS: Of the 200 samples, 44% had JAK2V617F and 10% were carrying CALR mutation with type 2 being the most frequent type in this study (55%). No MPL or JAK2 exon 12 mutations were detected. All clinical and hematological data had no differences with other populations except that our CALR-positive patients showed a decrease in the platelet count compared with JAK2V617F-positive patients. CONCLUSION: Our study on Egyptian patients shows a specific molecular profile of JAK2 mutation, and CALR mutation type 2 was higher than type 1.

Prevalence and Prognostic Value of IDH1 R132 Mutation in Newly Diagnosed AML Egyptian Patients with Normal Karyotype.

Mutation in IDH1 gene was suggested to be associated with bad prognosis in cytogenetically normal AML (CN-AML). However, there are conflicting data about its prognostic impact. Besides, its prevalence and prognostic significance in Egyptian patients still not fully stated. We aimed to assess the prevalence of IDH1R132 mutation in Egyptian CN-AML patients, its correlation with FAB subtypes, and clinical outcome of those patients. Sequencing of amplified IDH1 gene exon four from 50 patients was performed to detect codon R132 point mutation. High prevalence of IDH1 mutation was detected in our patients (9/50, 18 %). Mutated IDH1R132 was associated with older age and higher platelets count (p = 0.04 and 0.01 respectively). The most common FAB subtype associated with mutated IDH1R132 was AML-M2 followed by M4. In multivariate analysis, IDH1R132 mutation was found as independent prognostic variable. It was significantly associated with lower CR and shorter OS (p = 0.06 and 0.009 respectively).

Impact of serum immunoglobulins level and IL-18 promoter gene polymorphism among Egyptian patients with idiopathic thrombocytopenic purpura.

OBJECTIVES: Based on the concept of immune dysregulation in immune thrombocytopenic purpura (ITP) and that Interleukin-18 (IL-18) is an inflammatory cytokine that plays an important role in autoimmune disease by inducing interferon-γ secretion; this study aimed to assess a possible association between the IL-18 promoter polymorphisms (-607 C/A site) and genetic susceptibility to ITP and the impact of the immunoglobulins (Igs) concentrations level on disease severity and response to therapy. METHODS: A cross-section study was done on 105 patients' age range from 10 to 28 years, with newly diagnosed ITP at the Oncology Center Mansoura University over the past 2 years and 100 healthy subjects as a control group. For all patients and controls, the IL-18 promoter polymorphism (-607 C/A site) as well as serum Ig (IgG, IgM, IgA) concentration was determined. RESULTS: The IL-18 promoter polymorphism (-607 C/A site) was not significantly different between ITP patients and normal controls. The number of patients respond to standard line of therapy was significantly higher in those with low IgA levels as compared to those with high IgA levels (P = 0.02). On the other hand, the number of patients respond to standard therapy was significantly higher in those patients with high IgM levels as compared to those with low IgM levels (54.7 vs. 36.5%) (P < 0.05). The number of patients with bleeding manifestation was significantly higher among those with high IgA as compared to those with low IgA (43 of 79, 54.4%; vs. 36 of 79, 45.6%; P = 0.04). A change in IgG levels was not associated with response to treatment, bleeding tendency, or platelet counts. CONCLUSION: There is no association between IL-18 promoter polymorphisms (-607 C/A site) and genetic susceptibility to ITP. High IgA and low IgM levels are a bad index for treatment response to standard therapy.