Mixed hepatocellular carcinoma and hepatoblastoma: cytohistopathologic findings and differential diagnosis.

BACKGROUND: Hepatocellular carcinoma (HCC) accounts for approximately 80% of all the primary malignant tumors of the liver. Hepatoblastoma (HBL) is the most common primary malignant neoplasm of the liver in childhood, and extremely rare in adults. To the best of our knowledge, this is the first report of an adult case with cytopathologic description of a combined HCC and HBL, occurring in a noncirrhotic liver. CASE: A 24-year-old male was admitted to the hospital with right-sided abdominal pain. Masses in the liver were detected radiologically. Fine-needle aspiration biopsy and core-needle biopsy revealed a malignant hepatocellular tumor with features of both HCC and HBL. CONCLUSION: In the present case among the distinct HCC cell groups, areas of smaller and more primitive cells consistent with embryonal type HBL and some other groups of cells with intermediate morphology were observed. These findings suggested the probable single stem cell origin of the tumor with differentiation to both cell groups rather than a combination of two different tumors. Therefore, the term 'malignant hepatocellular tumor' could also be considered to define this particular tumor. This case provides support to the previous reports in which HBL areas are described in HCC.

The effect of CYP1A1 and GSTM1 gene polymorphisms in bladder cancer development in a Turkish population.

BACKGROUND: The aim of this study was to investigate a possible association of the CYP1A1 Ile462Val and GSTM1 null polymorphisms with the risk of developing bladder cancer in a Turkish population. PATIENTS AND METHODS: The study constituted 176 patients with bladder cancer and 97 healthy individuals. Evaluation of CYP1A1 Ile462Val gene polymorphism was performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). GSTM1 null gene polymorphism was exclusively determined by PCR. Our results were examined by statistical analyses. RESULTS: There were no significant differences in CYP1A1 genotype frequencies between patients and controls. Furthermore, the frequency of GSTM1 null genotype was higher in patients compared to controls, but it did not reach significance (p=0.622 χ(2)=0.243 OR=0.94 95% CI=0.75-1.18). Significance was discovered in combined analysis of CYP1A1 and GSTM1 genotypes. In the present study, GSTM1 null genotype with CYP1A1 Ile/Ile genotype combination was significantly more frequent in the patient group than in controls (p=0,04, χ(2)=4.217). At the same time, possessing both GSTM1 null genotype and CYP1A1 Val variants (Ile/Val+Val/Val) were significantly higher in control group than in patients (p=0.017, χ(2)=5.468). When the pathological tumor grades were assessed, the frequency of CYP1A1 Val mutant variant with GSTM1 null genotype combination was higher in patients with medium and high-grade tumors than in those with low-grade tumors (p=0.06, χ(2)=3.527, OR=1.36 95% CI=1.03-1.78). CONCLUSION: We suggest that the CYP1A1 Ile/Ile genotype with GSTM1 null genotype combination may contribute to the development of bladder cancer in this Turkish population.

192R allele of paraoxanase 1 (PON1) gene as a new marker for susceptibility to bladder cancer.

BACKGROUND: The human body has a number of endogenous free-radical scavenging systems. Paraoxonase1 (PON1) is one of the enzymes involved in such systems. The purpose of this study was to investigate the relationship between bladder cancer and the polymorphism of PON1 which results in Q/R substitution at codon 192. This is the first report of this polymorphism in bladder cancer. PATIENTS AND METHODS: Seventy-six bladder cancer patients and 135 healthy controls took part in the study. DNA from paraffin-embedded tissues for patients and from blood cells for controls was extracted. The distribution of PON1(192) polymorphism was determined by Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) techniques. RESULTS: There was significant difference in PON1 genotype frequencies (patients/controls QQ: 8/37, QR: 53/84, RR: 15/14, p=0.007) between the control and bladder cancer patients. Moreover, in patients there was significant association of the RR genotype of PON1 with invasive growth pattern (p=0.027), perineural invasion (p=0.016), distant metastasis (p<0.001), radical cystectomy (p=0.016) and death (p=0.005). CONCLUSION: In patients, the QQ genotype was statistically less frequent, while the RR genotype frequency was somewhat less than in controls. QQ type PON1 enzyme activity might be protective for bladder carcinogenesis. These findings support that genotypical differences of PON1 might contribute to prognosis and pathogenesis of bladder cancer. Arylamines are well-known bladder carcinogens, especially after a sulfate or an acetate esterification and PON1 has arylesterase activity. We hypothesize that arylesterase activity of PON1 would help the formation of free-radical type arylamine derivates on the bladder epithelial surface, so that secondary metabolites of paraoxon or related chemicals and biotransformed intermediates of arylamines might be involved in formation of bladder carcinoma.