BACKGROUND: Both of Fms-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD) and Additional Sex Comb-like 1 (ASXL1) mutations are frequent and early genetic alteration events in acute myeloid leukemia (AML) patients. These genetic alterations may be associated with unfavorable prognosis. OBJECTIVE: Up to our knowledge, this is the first study performed to evaluate the clinical implication and prognostic significance of FLT3-ITD and ASXL1 mutations and their coexistence on the outcome of Egyptian AML patients. METHODS: Our study included 83 patients with AML who were subjected to immunophenotyping and detection of FLT3-ITD and ASXL1 gene mutation by polymerase chain reaction (PCR) and real-time PCR, respectively. RESULTS: FLT3-ITD and ASXL1 mutations were detected in 20.5% and 18.1% of AML patients respectively. Seven patients (8.4%) had co-expression of both genes’ mutation. FLT3-ITD mutation was significantly higher in younger age, higher WBCs count and poor cytogenetic risk patients (P= 0.01, < 0.001 and 0.008 respectively). ASXL1 mutation was significantly higher in intermediate cytogenetic risk patients (P= 0.2). The mean period of survival and relapse free survival (RFS) were significantly reduced in FLT3-ITD and ASXL1 mutations compared with their non-mutant types (P= 0.01 and 0.03 respectively). Both mutations were independent risk factors for overall survival (OS) and (RFS) in univariate and multivariate analysis in AML patients. CONCLUSION: FLT3-ITD and ASXL1 gene mutations or their coexistence can predict a poor prognosis in AML patients.

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Background: Ovarian cancer is the fifth leading cause of cancer-related deaths among women worldwide. Unfortunately, early detection tests are relatively lacking. Diagnosis in the late stages of the disease carries a poor prognosis. Objective: To evaluate the relationship between miR-196a-2 rs11614913 polymorphism and ovarian cancer risk and prognosis in Egyptian females. Methods: In this case-control study, the participants were classified into 2 groups. Group A is the control group which included 50 healthy females. Group B included 50 patients newly diagnosed with ovarian carcinoma confirmed by histopathological analysis. Immunohistochemistry for P53 and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for miR-196a-2 genotypes detection were performed. Results: There was a statistically significant difference among ovarian cancer cases and controls regarding genotypes (P = 0.003). However, the distribution of the T and C alleles in both studied groups showed no significant difference (P = 0.17). There was a statistically significant increase of CA 125 levels among CT and CC genotypes carriers of ovarian cancer cases (p = 0.04). Besides, there was a statistically significant correlation between miR-196a-2 polymorphism and each of tumor grade (P <0.001), p53 immunohistochemical expression (P= 0.002), and Figo classification (P <0.001). Conclusion:There was a statistically significant increase of CA 125 levels among C allele carriers of ovarian cancer cases. Besides, there was a statistically significant association between the miR-196a-2 polymorphism and each of tumor grade, p53 immunohistochemical expression, and Figo classification. So, miR-196a-2 polymorphism can be a possible prognostic factor in ovarian cancer.

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Background. Diagnosis of urothelial carcinoma in situ is of great importance because it has prognostic and therapeutic value.We aim to determine the utility of EZH2 and ARID1A as a new tool in the diagnosis of carcinoma in situ.Material and Methods. This retrospective cross-sectional study included Twenty-four specimens of flat urothelial lesions, twenty specimens of CIS, and 10 of normal adjacent urothelium that was taken by cystoscopic resection biopsy procedure. immunohistochemical expression of EZH2 and ARID1A. were evaluated in all studied cases.Results. All normal urothelium specimens showed high nuclear staining for ARID1A and negative nuclear staining for EZH2. High EZH2 expression was observed in 80 % of CIS specimens compared to 20 % of flat urothelial lesions with atypia (p=0.001 ), while high ARID1A expression was observed in 70.8 % of flat urothelial lesions with atypia compared to 25 % of CIS specimens (p=0.001). EZH2 was more accurate and specific in the diagnosis of carcinoma in situ.Conclusion. EZH2 and ARID1A are promising diagnostic markers for urothelial CIS. EZH2 is more accurate and specific than ARID1A in the diagnosis of carcinoma in situ versus other flat urothelial lesions.