Background: Primary refractory acute myeloid leukemia (AML) represents a continuing obstacle in clinical management. The Runtrelated transcription factor 1 (RUNX1) gene is a relatively uncommon mutational target in AML cases. Aim: to investigate the role of RUNX1 mutation in newly diagnosed refractory AML patients receiving first-line induction chemotherapy. Methods: Our research involved 50 newly diagnosed Egyptian AML patients; As a control group, 20 newly diagnosed AML patients who received the conventional first induction chemotherapy with complete remission (CR) and 30 newly diagnosed AML patients who received the same conventional first induction chemotherapy protocols but did not respond to the treatment.Results: 13.3% of the examined cases group had RUNXI mutations found, compared to 5% of the control group, RUNXI mutation was found statistically significant with cases group (P=0.01) and RUNX1 mutation and OS were significantly correlated (P=0.05). Conclusion: RUNX1 mutation have a role in resistance totreatment and prognosis in AML. Therefore, measurement of RUNX1 level provides a new strategy to more aggressive treatments for primary refractory AML cases.
Discussion This audit confirms that: -Hyponatraemia is often not recognised, inadequately investigated and poorly managed.
Introduction• Hyponatraemia is defined as serum sodium concentration <135mmol/L.• It is the most common electrolyte disorder encountered in clinical practise Proton pump inhibitors (PPI's) are commonly prescribed in the UK, and the indication and duration of treatment is often not reviewed. Inhibiting more than the proton pumpDr Shaza Ahmed, Dr Chloe Broughton, Dr Beas Bhattacharya Great western Hospital Swindon Methods• A retrospective audit was performed of patients admitted to The Great Western Hospital (GWH) with a serum sodium of 127mmol/L or less on admission, over a three month period.• The aim was to identify prescribed medications that may be contributing to the hyponatraemia. Discussion• Hyponatraemia is often caused by drugs such as Anti-psychotics, anti-depressants, diuretics • This audit clearly demonstrates apart from the well known drugs, proton pump inhibitors is a significant contributor to hyponatraemia.• There are often alternatives, for example H2 receptor antagonists rather than PPIs, and clinicians should consider these in patients at risk of hyponatraemia.• 57% of patients audited had a previous diagnosis of hyponatraemia suggesting we may be missing opportunities 77% 23%
Background The P53 protein has an essential role in several cellular processes, including DNA repair, apoptosis, and cell cycle arrest. The pathophysiology of many cancer types has frequently been linked to polymorphisms in the TP53 locus. Over 200 single nucleotide polymorphisms (SNPs) have been identified in TP53. However, Pro72Arg (rs1042522) at codon 72, shows contradictory results in terms of cancer risk. In this study, we aimed to determine if the Pro72Arg (rs1042522) SNP in the TP53 gene would be linked to breast cancer (BC) risk among Egyptian patients. Materials and Methods Genomic DNA was extracted from blood samples of 100 healthy volunteers and 100 breast cancer patients (50 familial and 50 non-familial). TP53 Genotyping was performed using tetra-primer amplification refractory mutation (Tetra-ARMS) PCR. Data were analyzed using SNPstat software. Results The prevalence of TP53 (Pro72Arg) rs1042522 genotypes carrying the high-risk allele [Pro/Arg (CG) and Arg/Arg (GG)] were significantly higher in BC patients compared to healthy volunteers and were associated with BC susceptibility (OR 0.2; [95% CI 0.11–0.38]; P = 0.0001). However, there was no statistical significant difference in the prevalence of TP53 (Pro72Arg) rs1042522 genotypes carrying the high-risk allele between familial and non-familial BC patients. In addition, there was no association between the prevalence of TP53 (Pro72Arg) rs1042522 genotypes carrying the high-risk allele and BC patients’ clinical and pathological characteristics including tumor size, tumor grade, lymph node status, presence of lymphovascular invasion, expression of ER, PR and Her-2 in both of familial and non-familial BC patients. Conclusions TP53 (Pro72Arg) rs1042522 is more prevalent among BC patients but not associated with disease progression.
Introduction: The incidence of breast cancer (BC) has substantially increased among women younger than 50. Due to fragile economic situation in the middle east and lack of awareness, BC women are characterized by late diagnosis and thus, there is an urgent need for a cheap early prognostic tool. BC progression involves several genetic mutations via activating oncogenes or disrupting the functions of tumor suppressor genes, such as; BRCA1, BRCA2, P53. Mutation in these genes are associated with an increased risk of breast cancer and thereof, can be used as prognostic markers. High throughput technologies such as next generation sequencing (NGS) with help of different bioinformatic analysis tools give massive data about deleterious mutations in tumor suppressor genes. Therefore, in this study we aimed to establish High Resolution Melting (HRM) technique as an economic prognostic tool for identifying deleterious mutations in BRCA1/2 and P53 genes amongst familial and non-familial breast cancer patients. Patients and Methods: Forty-eight breast cancer patients (15 Familial and 33 non-familial) and 2 healthy volunteers were enrolled in the present study. Genomic DNA was extracted from breast cancer tissues and screened using NGS to identify types of mutations in both BRCA1/2 genes. All positive samples were screened for presence of mutations in BRCA 1(exon 19), BRCA2 (Exon 11F) and P53 (exon 5) using HRM. All samples were analyzed for identifying types of mutations using sanger sequencing. Results: Our results identified 57 different mutations in the three genes. Deleterious mutations are identified as follows; 13 frameshift (c.5345delA (36.3%), c.5321delC (36%), c.5337delA (27.2%)) and 8 missense mutations (c.T5320C (36.3%), c.T5330W(A/T) (27.2%)) in BRCA1 (Exon 19). 6 frameshift mutations (c.3528delA (27.2%)), 13 missense mutations (c.T3840G (72.7%), c.G3839K(G/T) (27.2%)) and 6 synonymous mutations (c.A3895R (A/G) (45.4%)) in BRCA2 (exon11F). Regarding P53 (exon 5), 10 frameshift mutations (c.813insC (63.6%)) were detected. Additionally, some of the sequences were sent to GenBank and obtained the following accession numbers; (OL512955 and OL512956 for BRCA1(Exon 19) and OL512957 for BRCA2 (Exon 11)). Moreover, mutations in the three high penetrance genes; BRCA1, BRCA2 and P53 were correlated with some clinical parameters and results showed that young age and family history were the most prominent ones. Conclusion: The present study successfully established HRM as an economic prognostic tool for identifying the presence of deleterious mutations in BRCA1/2 and P53 genes which will help correlate the presence of mutations on other affected exons when present with other risk factors as prognostic tool in BC women. STDF Acknowledgement: This project was funded by the Science and Technology Development Fund (STDF), Egypt Grant No.22944. Citation Format: Shaza Ahmed, Nasra F. Abdel Fattah, Shimaa A. Metwally, Marwa A. Abdelwahed, Hossam Taha Mohamed, Sara H. Agwa, AbdelWahab El Ghareeb, Gehan Safwat, Ahmed A. El Sherif, Mohamed M. Moneer, Samah A. Loutfy. High resolution melting technique as an economic prognostic tool for identifying deleterious mutations in BRCA1, BRCA2, and P53 genes amongst breast cancer women [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 5842.
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