PRAME gene expression in childhood acute lymphoblastic leukemia: impact on prognosis.

BACKGROUND: The PRAME (preferentially expressed antigen of melanoma) gene is frequently overexpressed in a wide variety of malignant diseases, including acute myeloid leukemia (AML) and acute B-cell malignancies. AIM: To study the expression of PRAME gene and clarify its prognostic impact on disease outcome. METHODS: Screening for PRAME gene expression was assessed using real-time reverse transcriptase polymerase chain reaction in 55 pretreated ALL bone marrow samples. RESULTS: PRAME positivity was found in 14 (31.3%) of 45 patients. No significant correlation could be observed between PRAME expression and clinical characteristics. Positive PRAME expressers had a statistically higher CR (p = 0.001), lower relapse (p = 0.02), lower mortality (p < 0.001), a trend towards lower Refractory disease (p = 0.10), and a statistically longer DFS and OS (p < 0.001, < 0.001, respectively) in comparison to negative PRAME expressers. CONCLUSIONS: Our results suggested that PRAME was a predictor for better outcome, could be a useful target for immunotherapy, and might represent a candidate marker for the monitoring of minimal residual disease.

Relationship between NRAMP1 gene polymorphism and efficacy of BCG vaccine in a helminth-infected population.

Infection of mothers with schistosomiasis and filariasis has been shown to influence infant responses to neonatal Bacille Calmette-Guérin (BCG) immunization. The genetic makeup of infants is also considered an important determinant for the activity of BCG vaccine. The effect of natural resistance-associated macrophage protein 1 (NRAMP1) gene polymorphism on the efficacy of BCG vaccine was examined in neonates with helminth-infected mothers (63 infants) and the results were compared with neonates of uninfected mothers (187 infants). After BCG vaccination, assessment of scar presence, tuberculin test, stool analysis, and IgE level was performed. Polymorphism of the NRAMP1 gene was investigated by PCR amplification followed by RFLP analysis. We found that patients with heterozygosity of intron 4 (GC) and/or maternal infection with helminth parasites showed reduced efficacy of BCG vaccine against tuberculosis.

Human ochratoxicosis and nephropathy in Egypt: a preliminary study.

This preliminary study was designed in a trial to delineate the size of the problem of ochratoxicosis and its relation to genesis of lesions mounting to end stage renal disease (ESRD) or urothelial tumors in Egypt. This study comprised five groups of patients having renal diseases of different presentations; they are: patients with (ESRD) under conservative medical treatment (group 1), patients with (ESRD) under treatment with regular hemodialysis (group 2), renal allograft recipients (group 3), patients with nephrotic syndrome (group 4) and patients with urothelial tumors (group 5). In addition, two reference groups: potential related donors for renal transplantation (group 6) and healthy control with negative family history of renal disease (group 7). For all groups, laboratory, radiological and histopathological evaluation of kidney status were carried out coupled with determination of ochratoxin A level in serum, in urine and in biopsy specimens of patients with urothelial tumors. High ochratoxin serum levels were found in patients with ESRD (groups 1 and 2) (P < 0.01), higher serum levels were detected in the group without dialysis (group 1) in comparison with the reference groups possibly due to ochratoxin. A clearance by dialysis. Ochratoxin A was detected in serum and urine of renal transplant recipients (group 3) (P < 0.01) and especially higher levels were found in patients with nephrotic syndrome (group 4) (P < 0.001). For the group with urothelial tumor (group 5), positive serum, urine and tissue biopsy specimens for ochratoxin levels were found (P < 0.01). The results could lead to the conclusion that ochratoxin A could be correlated to the genesis of renal disease leading to (ESRD) or causing urothelial cancer. A thorough and in depth study of the problem of ochratoxicosis and renal disease causation in Egypt is now recommended.