The presence of prostate cancer at biopsy is predicted by a number of genetic variants.

Several single nucleotide polymorphisms (SNPs) have been associated with an elevated risk of prostate cancer risk. It is not established if they are useful in predicting the presence of prostate cancer at biopsy or if they can be used to define a low-risk group of men. In this study, 4,548 men underwent a prostate biopsy because of an elevated prostate specific antigen (PSA; ≥4 ng/mL) or an abnormal digital rectal examination (DRE). All men were genotyped for 11 selected SNPs. The effect of each SNP, alone and in combination, on prostate cancer prevalence was studied. Of 4,548 men: 1,834 (40.3%) were found to have cancer. A positive association with prostate cancer was seen for 5 of 11 SNPs studied (rs1800629, rs1859962, rs1447295, rs4430796, rs11228565). The cancer detection rate rose with the number of SNP risk alleles from 29% for men with no variant to 63% for men who carried seven or more risk alleles (OR = 4.2; p = 0.002). The SNP data did not improve the predictive power of clinical factors (age, PSA and DRE) for detecting prostate cancer (AUC: 0.726 vs. 0.735; p = 0.4). We were unable to define a group of men with a sufficiently low prevalence of prostate cancer that a biopsy might have been avoided. In conclusion, our data do not support the routine use of SNP polymorphisms as an adjunct test to be used on the context of prostate biopsy for Polish men with an abnormal screening test.

The G84E mutation in the HOXB13 gene is associated with an increased risk of prostate cancer in Poland.

BACKGROUND: The G84E mutation in the HOXB13 gene has been associated with a high lifetime risk of prostate cancer in North America (about 20-fold). The geographical and ethnic extent of this recurrent allele has not yet been determined. METHODS: We assayed for the presence of the G84E mutation in 3,515 prostate cancer patients and 2,604 controls from Poland and estimated the odds ratio for prostate cancer associated with the allele. RESULTS: The G84E mutation was detected in 3 of 2,604 (0.1%) individuals from the general population in Poland and in 20 of 3,515 (0.6%) men with prostate cancer (Odds ratio [OR] = 5.0; 95% CI: 1.5-16.7; P = 0.008). The allele was present in 4 of 416 (1.0%) men with familial prostate cancer (OR = 8.4, 95% CI: 1.9-37.7; P = 0.005). CONCLUSIONS: The G84E mutation predisposes to prostate cancer in Poland, but accounts for only a small proportion of cases. We expect that the G84E founder mutation might be present in other Slavic populations.

Genetic polymorphisms in matrix metalloproteinases (MMPs) and tissue inhibitors of MPs (TIMPs), and bladder cancer susceptibility.

OBJECTIVES: To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (rs243865), MMP9 (rs3918242), MMP12 (rs2276109) and tissue inhibitors of MMPs (TIMPs) TIMP1 (rs2070584) and TIMP3 (rs9619311) genes that may be involved in susceptibility to bladder cancer (BC). PATIENTS AND METHODS: We enrolled 241 patients with BC and 199 controls. Genomic DNA samples were extracted from peripheral blood and polymorphisms were analysed by high-resolution melting analysis and by real-time polymerase chain reaction using TaqMan fluorescent probes. RESULTS: Of the six evaluated polymorphisms of MMPs and TIMPs, only one was found to be associated with BC risk. There was a significant difference for MMP1 (rs1799750) 2G/1G+1G/1G genotype (odds ratio [OR] 0.62, 95% confidence interval [CI] 0.39-0.98; P = 0.042). Additionally, there was a joint effect of this genotype on BC risk among 'ever smokers' (OR 0.51, 95% CI 0.28-0.89; P = 0.019), but not in 'never smokers'. The combined genotype MMP2 -1306C/T (rs243865) allele T with MMP9 -1562C/T (rs3918242) allele T was found to increase BC risk (OR 2.00, 95% CI 1.10-3.62; P = 0.022). CONCLUSIONS: Our results suggest that genetic variations in five polymorphisms of MMPs and TIMPs are not associated with a high risk of BC. Only MMP1 polymorphism may be related to the risk of BC, notably in 'ever smokers'. Our study suggests that the effects of polymorphisms of MMPs and TIMPs on BC risk deserve further investigation.

(CGG)4-based PCR as a novel tool for discrimination of uropathogenic Escherichia coli strains: comparison with enterobacterial repetitive intergenic consensus-PCR.

Urinary tract infections are one of the most frequent bacterial diseases in humans, and Escherichia coli is most often the relevant pathogen. A specific pathotype of E. coli, known as uropathogenic E. coli (UPEC), often causes serious and difficult-to-treat infections of the urinary tract. We propose a new single-tube screening tool that uses an (N)(6)(CGG)(4) primer to generate fingerprint profiles that allow rapid discrimination and epidemiology of this group of bacteria. We found 71 different CGG-PCR profiles among 127 E. coli strains, while enterobacterial repetitive intergenic consensus (ERIC)-PCR of the same group yielded only 28 profiles. Additionally, the (CGG)(4)-based PCR test turned out to be very effective for clustering UPEC strains exhibiting multiple virulence genes and usually belonging to the B2 phylogenetic group, and it separated these strains from E. coli strains lacking most of the UPEC-specific virulence factors. Since the reproducibility of the CGG-PCR screen is higher than that of ERIC-PCR, our test should be a valuable means of increasing the discriminatory power of current UPEC typing schemes.

Level of selenoprotein transcripts in peripheral leukocytes of patients with bladder cancer and healthy individuals.

BACKGROUND: Low concentrations of selenium (Se) in humans have been associated with risk of cancer. Selenoprotein mRNAs can potentially be regulated by Se status. METHODS: Se status, GPx1 Pro198Leu and Sep15 1125G/A genetic polymorphism and human (h)GPx1, hGPx3, hSep15 and hSeP1 transcript levels in peripheral leukocytes of 33 males with bladder cancer and 47 healthy male controls were analysed. RESULTS: All the subjects expressed detectable selenoprotein mRNA concentrations in leukocytes. Significantly lower expression of hGPx1, hGPx3, hSep15 and hSeP1 in leukocytes of bladder cancer patients compared to controls was observed. hGPx1, hGPx3 and hSep15 expression was significantly lower in non-smokers in the control group compared with smokers in the control group. A positive relationship between expression of all studied genes was also observed in non-smoking controls. Expression of hGPx3 and hSep15 gradually increased with tumour grade in patients with cancer. We did not find any association between selenoprotein mRNA levels, Se status and selenoprotein genetic polymorphism. CONCLUSIONS: This study showed significant down-regulation of hGPx1, hGPx3, hSep15 and hSeP1 mRNA levels in leukocytes of patients with bladder cancer compared to controls. Selenoprotein transcript levels in circulating leukocytes of patients with bladder cancer and controls revealed no potential impact of Se status on selenoprotein expression.

BRCA1 mutations and prostate cancer in Poland.

Evidence to date that BRCA1 mutation carriers are at an increased risk of prostate cancer is mixed - both positive and negative studies have been published. To establish whether or not inherited variation in BRCA1 influences prostate cancer risk we genotyped 1793 men with prostate cancer in Poland and 4570 controls for three founder mutations (C61G, 4153delA and 5382insC). A BRCA1 mutation was present in 0.45% of the cases and 0.48% of the controls (odds ratio=0.9; P=1.0). The odds ratios varied substantially by mutation. The 5382insC mutation is the most common of the three founder mutations. It was detected only in one case (0.06%), whereas it was seen in 0.37% of controls (P=0.06). In contrast, the 4153delA was more common in prostate cancer cases (0.22%) than in controls (0.04%) (odds ratio=5.1; 95% confidence interval: 0.9-27.9; P=0.1). The C61G mutation was also found in excess in cases (0.17%) compared with controls (0.07%) (odds ratio=2.6; 95% confidence interval: 0.5-12.7; P=0.5). Eight men with prostate cancer carried a mutation. Only one of these carried the 5382insC mutation, compared with 17 of 22 individuals with mutations in the control population (P=0.003). These data suggest that the 5382insC mutation is unlikely to be pathogenic for prostate cancer in the Polish population. The presence of one of the other alleles was associated with an increased risk for prostate cancer (odds ratio=3.6; 95% confidence interval: 1.1-11.3; P=0.045); in particular for familial prostate cancer (odds ratio=12; 95% confidence interval: 2.9-51; P=0.0004). We consider that the risk of prostate cancer in BRCA1 carriers varies with the position of the mutation.

Probability of ten-year survival in metastatic renal cell carcinoma.

Metastatic renal cancer has a very poor prognosis and constitutes a challenge to uro-oncologists. We present a patient who in the 10 years following the diagnosis of renal cell carcinoma developed nine consecutive metastases in as many sites. He was operated on eleven times in different departments and received systemic therapy. We performed two percutaneous radiofrequency ablations of the cancer mass in the remaining kidney, which gave him the possibility of preserving renal function and we used the ablation technique to coagulate the metastatic mass in the psoas muscle. Furthermore, we executed an adrenalectomy and removed the ablated kidney tumor. The patient's long-term survival, as well as the various applications of radiofrequency ablation, would seem to be worth reporting.

[The rare case of the multiple primary planoepithelial laryngeal cancer and clarocellular renal cancer]. / Rzadki przypadek pierwotnego mnogiego raka plaskonablonkowego krtani i jasnokomórkowego nerki.

The authors present a rare case of the primary multiple planoepithelial laryngeal cancer and clarocellular renal cancer in a patient operated in the Clinic. The patient, called EJ., was admitted to the Clinic of Otolaryngology and Laryngological Oncology due to hoarse voice he had been suffering for 6 months. On the interview with the patient, otolaryngological and videolaryngostroboscopic examinations we diagnosed hypertrophic changes in the whole length of the right vocal fold with the fold mobility preserved. The hypertrophic changes in the right vocal fold were removed by Kleinsasser direct microlaryngoscopy. However, the histopathological examination showed carcinoma planoepitheliale keratodes infiltrans mucosae laryngis G-2. In the further treatment the patient was qualified to the dexter chordectomy by the CO2 laser. The histopathological examination confirmed the total removal of the changes within the healthy cells. After about one year from the completed laryngological treatment the patient visited the urological outpatient clinic due to pain ailments in the right lumbar part. The urographic examination and CT of the abdominal cavity showed a tumour (8 x 9 cm), in the right kidney. The patient was admitted to the 1st Clinic of Urology the Chair of Urology and qualified to the dexter nephrectomy. Following the operation the histopathological examination indicated carcinoma clarocellulare partim cysticum renis dextri. Class, Fuhrman 20, pT2 Nx Mx. The hyperplasia limited to the renal parenchyma. Cut-off lines of the ureter and vessels without neoplastic infiltration. The patient remains under constant catamnesis at the urological and laryngological outpatient clinic, no symptoms of the neoplasm relapse.

Usefulness of clearance parametric images in detection of regional renal parenchyma dysfunction.

BACKGROUND: The aim of the study was to examine whether parametric clearance images (PAR) enhance diagnostic potential of a dynamic renal scintigraphy with detection of local dysfunction of kidneys, on a model of kidneys after treatment with extracorporeal shock wave lithotripsy (ESWL), MATERIAL AND METHODS: Kidneys after ESWL were accepted as a proper model for the implementation of this objective because of the previously proven damaging effect of a shock wave on renal parenchyma and known region of ESWL application. Forty patients (23 males and 17 females) at the age of 37 to 70 years (mean value 54) with untreated earlier single, one-sided nephrolithiasis, currently treated with ESWL, underwent a study. A dynamic renal 99mTc-EC scintigraphy was performed three times: before ESWL, a week and a month after this therapeutic intervention. PAR images generated with use of an in-house developed software were compared with summation (SUM) of images obtained from radiopharmaceutical uptake phase and quantitative global function parameters (GFP) of each kidney, like split function, MTT - mean transit time and PTT - parenchymal transit time. RESULTS: PAR and SUM images of all 40 kidneys before ESWL were normal. PAR images revealed local or diffused defects a week and a month after therapeutic intervention in statistically significantly larger numbers of kidneys than SUM images (19 vs. 6, p = 0.002 and 16 vs. 5, p = 0.003, respectively). A week after ESWL, when defects in PAR images were observed in about a half of all renal segments (29/57 - 51%) all GFP values were significantly worse than in kidneys without defects. A month after ESWL defects in PAR images could be observed in ab. 1/3 (17/48 - 35%) of segments and were less extensive, whereas GFP values did not differ significantly from values in kidneys without clearance function impairment in the PAR images. CONCLUSIONS: PAR images enhance diagnostic potential of a dynamic renal scintigraphy with detection of local function defects. These images allow to detect more local renal function defects than SUM images.

Different Gene Expression and Activity Pattern of Antioxidant Enzymes in Bladder Cancer.

The aim of this study was to evaluate the possible role in and contribution of antioxidant enzymes to bladder cancer (BC) etiology and recurrence after transurethral resection (TUR). We enrolled 40 patients with BC who underwent TUR and 100 sex- and age-matched healthy controls. The analysis was performed at diagnosis and recurrence, taking into account the time of recurrence. Gene expression of catalase (CAT), glutathione peroxidase 1 (GPX1) and manganese superoxide dismutase (SOD2) was determined in peripheral blood leukocytes. The activity of glutathione peroxidase 3 (GPX3) was examined in plasma, and GPX1 and copper-zinc containing superoxide dismutase 1 (SOD1) in erythrocytes. SOD2 and GPX1 expression and GPX1 and SOD1 activity were significantly higher in patients at diagnosis of BC in comparison to controls. In patients who had recurrence earlier than 1 year from TUR, CAT and SOD2 expression was lower (at diagnosis p=0.024 and p=0.434, at recurrence p=0.022 and p=0.010), while the GPX1 and GPX3 activity was higher (at diagnosis p=0.242 and p=0.394, at recurrence p=0.019 and p=0.025) compared to patients with recurrence after 1 year from TUR. This study revealed that the gene expression and activity of the antioxidant enzymes are elevated in blood of patients with BC, although a low expression of CAT might contribute to the recurrence of BC, in early prognosis.

Urological procedures in Central Europe and the current reality based on the national registries of Czech Republic, Hungary, and Poland (2012 status).

INTRODUCTION: In recent years, the laparoscopic approach in oncologic urology seems more attractable to the surgeons. It is considered to have the same oncologic quality as open surgery, but is less invasive in patients. It is used widely in all of Europe, but with various frequency. The aim of the study was to present a various amount of oncourological procedures from three neighbouring countries - Poland, Czech Republic and Hungary. Prostatectomy, cystectomy, nephrectomy and tumorectomy (Nephron Sparing Procedures - NSS) were presented as a list of procedures prepared from the national registry. MATERIAL AND METHODS: The total amount of procedures was presented, as well as the LO (Lap to Open procedures) index, P/P (procedures/population) index, ratio of cystectomy/population, and cystectomy/TURBT. RESULTS: In the Czech Republic, the most complex procedures are performed (laparoscopic/robotic prostatectomy, NSS LAP, LAP nephrectomy) in the majority when analysing the country's population. In Hungary and Czech Republic, there are more laparoscopic/robotic radical prostatectomies performed, than open ones. In Poland the largest number of cystectomies is performed when analysing the country's population, but it is difficult to explain the much higher ratio of 6.57 TUR/one cystectomy. In the Czech Republic this procedure is performed in almost one quarter of the patients (23.36%). Interestingly, in Hungary the cystectomy with pouch creation is performed in about 67.65% cases. The highest reimbursement for surgical procedure is present in the Czech Republic with approximately 20-40% more than when compared to Poland or Hungary. CONCLUSIONS: The definitive leader in Central Europe (based on the national registry) is the Czech Republic, where the most complex procedures are performed (laparoscopic/robotic prostatectomy, NSS LAP, LAP nephrectomy) in biggest amounts when analysing the country's population. Explanation of such circumstances, can be the higher reimbursement rate for surgical procedure in this country.

Quality of life in a population of Polish patients with prostate cancer.

INTRODUCTION: Recent advances in treatment have led to the prolongation of life among patients with prostate cancer (PCa), which implies greater interest in the issue of the quality of life (QoL) in patients who undergo treatment. The quality of life of patients with cancer questionnaire (QLQ-C30) and the quality of life questionnaire specific to PCa (QLQ-PR25) are tools used worldwide to conduct research on this subject. In our study we assessed the quality of life in a population of Polish patients suffering from prostate cancer. Differences in the quality of life depending on the stage of the disease were highlighted. MATERIAL AND METHODS: We conducted a prospective, multicenter, observational study using the QLQ-C30 and QLQ-PR25 questionnaires in a group of 1047 patients. RESULTS: The highest QoL scores (according to the QLQ-C30 questionnaire) were observed in patients with localized prostate cancer, while the lowest were recorded in the metastatic group. Sexual activity and sexual functioning assessed on the basis of QLQ-PR25 was best in the group of patients suffering from localized prostate cancer, and the worst in patients with locally advanced PCa. CONCLUSIONS: The assessment of QoL showed a significant correlation with the stage of the disease. Sexual activity and sexual functioning were the best in patients with localized cancer; worst among patients with locally advanced tumor.

The variant allele of the rs188140481 polymorphism confers a moderate increase in the risk of prostate cancer in Polish men.

A number of single nucleotide polymorphisms (SNPs) in the human genome have been associated with increased risk of prostate cancer. Recently, a single SNP in the region of chromosome 8q24 (rs188140481) has been associated with a three-fold increased risk of prostate cancer in Europe and North America. To establish whether rs188140481 is associated with the risk of prostate cancer in Poland, we genotyped 3467 men with prostate cancer and 1958 controls. The A allele of rs188140481 was detected in 44 of 3467 (1.3%) men with prostate cancer and in seven of 1958 (0.4%) controls (odds ratio=3.6; 95% confidence interval 1.6-7.9; P=0.0006). The allele was present in eight of 390 (2.1%) men with familial prostate cancer (odds ratio=5.8; 95% confidence interval 2.1-16.2; P=0.001). A positive family history of cancers at sites other than the prostate was observed in 27% of men who carried the rs188140481 risk allele and in 44% of noncarriers (P=0.04). No cancer at a site other than the prostate was more common in first-degree or second-degree relatives of carriers of the rs188140481 risk allele than relatives of noncarriers. The rs188140481 polymorphism in the 8q24 region confers a moderate increase in the risk of prostate cancer in Polish men. The SNP does not appear to be associated with susceptibility to cancers of other types.

A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD).

Angiomyolipoma (AML) is a rare benign renal tumor occurring in about 0.3 to 3% of the general population. Most frequently it takes the form of small single tumors occurring sporadically or accompanying tuberous sclerosis (Bourneville-Pringle disease). In some cases the tumor may reach a very large size and be a cause of various serious complications. This case description concerns a 26-year-old female patient, suffering from hypopituitarism, hypothyroidism and binocular blindness during the course of septo-optic dysplasia, in whom a giant, left renal AML was diagnosed and treated surgically. According to the authors' knowledge this was the first reported case of a huge size AML in a patient with de Morsier syndrome.

MMP7 and MMP8 genetic polymorphisms in bladder cancer patients.

INTRODUCTION: Breakdown of the extracellular matrix by matrix metalloproteinases (MMPs), as we know, is one of mechanisms involved and required in tumor invasion. MMP7 is a negative prognostic factor of various malignances, while MMP8 exhibits an inhibitory effect on tumorigenesis and metastasis. We evaluated the potential association of functional polymorphisms in the promoter of the MMP7 (rs11568818) and MMP8 (rs11225395) genes and bladder cancer (BCa) risk. MATERIALS AND METHODS: The study included 241 BCa cases and 199 healthy population controls that were collected at the First Department of Urology, Medical University (Lódz, Poland) and at the Nofer Institute of Occupational Medicine (Lódz, Poland). Genomic DNA samples were isolated from venous blood and genetic polymorphisms were analyzed by real-time polymerase chain reaction using TaqMan fluorescent probes. Associations between genotype and allele status were estimated by logistic regression models adjusted for classic risk factors (e.g. age, gender and cigarette smoking). RESULTS: MMP7 and MMP8 genotypes were distributed similarly in BCa patients and in controls and at least one variant allele was not associated with BCa cancer risk (OR, 0.91; 95% CI, 0.60-1.39; p = 0.662 for MMP7 and OR, 0.96; 95% CI, 0.63-1.46; p = 0.836 for MMP8). We observed higher prevalence of MMP7 GG genotypes among BCa patients than in controls (OR, 1.54; 95% CI, 0.93-2.55; p = 0.093). Additionally, genetic polymorphisms in the MMP7 and MMP8 were not associated with the tumor grade or stage. CONCLUSIONS: Our results suggest that genetic variations in two genes encoding members of the MMP7 and MMP8 are not associated with a risk of BCa in the Caucasian population.

Polymorphisms of NRF2 and NRF2 target genes in urinary bladder cancer patients.

PURPOSE: NRF2 transcription factor is involved in modulation of various antioxidant and metabolic genes and, therefore, may modulate anti-carcinogenic potential. Association between polymorphisms of NRF2 and five NRF2-regulated genes and urinary bladder cancer (BC) risk was analyzed. METHODS: The study group included 244 BC patients, while the control group comprised 365 individuals with no evidence of malignancy. Genotyping of GSTM1 (deletion), GSTT1 (deletion), GSTA1 -69C/T (rs3957357), GSTP1 Ile105Val (rs1695), SOD2 Ala16Val (rs4880) and NRF2 -617C/A (rs6721961) in blood genomic DNA was performed by means of real-time PCR assays. The associations between gene polymorphism and BC risk were computed by logistic regression. RESULTS: The frequency of GSTA1, GSTP1, SOD2 and NRF2 genotypes did not differ in both groups. A significantly higher BC risk was associated with GSTM1 null genotype after adjusting to age, sex and smoking habit (OR 1.85, 95 % CI 1.30-2.62; P = 0.001). GSTT1 null (OR 0.50, 95 % CI 0.31-0.81; P = 0.005) and GSTP1 Val105Val (OR 0.52, 95 % CI 0.27-0.98; P = 0.04) genotypes were associated with reduced BC risk separately or in combination (OR 0.24, 95 % CI 0.11-0.51; P < 0.0001) (P heterogeneity = 0.01). Combined GSTT1 null and SOD2 with at least one 16Val allele among never smokers encompass reduced BC risk (OR 0.14, 95 % CI 0.03-0.63; P = 0.01) (P heterogeneity = 0.04). CONCLUSIONS: This study supports hypothesis that GSTM1 null genotype may be a moderate BC risk factor. The gene-gene and gene-environment interactions associated with combined GSTP1/GSTT1 and combined GSTT1/SOD2 genetic polymorphisms along with cigarette smoking habit may play a significant role in BC risk modulation.

Molecular subtyping of bladder cancer using Kohonen self-organizing maps.

Kohonen self-organizing maps (SOMs) are unsupervised Artificial Neural Networks (ANNs) that are good for low-density data visualization. They easily deal with complex and nonlinear relationships between variables. We evaluated molecular events that characterize high- and low-grade BC pathways in the tumors from 104 patients. We compared the ability of statistical clustering with a SOM to stratify tumors according to the risk of progression to more advanced disease. In univariable analysis, tumor stage (log rank P = 0.006) and grade (P < 0.001), HPV DNA (P < 0.004), Chromosome 9 loss (P = 0.04) and the A148T polymorphism (rs 3731249) in CDKN2A (P = 0.02) were associated with progression. Multivariable analysis of these parameters identified that tumor grade (Cox regression, P = 0.001, OR.2.9 (95% CI 1.6-5.2)) and the presence of HPV DNA (P = 0.017, OR 3.8 (95% CI 1.3-11.4)) were the only independent predictors of progression. Unsupervised hierarchical clustering grouped the tumors into discreet branches but did not stratify according to progression free survival (log rank P = 0.39). These genetic variables were presented to SOM input neurons. SOMs are suitable for complex data integration, allow easy visualization of outcomes, and may stratify BC progression more robustly than hierarchical clustering.

A common nonsense mutation of the BLM gene and prostate cancer risk and survival.

BACKGROUND: Germline mutations of BRCA2 and NBS1 genes cause inherited recessive chromosomal instability syndromes and predispose to prostate cancer of poor prognosis. Mutations of the BLM gene cause another chromosomal instability clinical syndrome, called Bloom syndrome. Recently, a recurrent truncating mutation of BLM (Q548X) has been associated with a 6-fold increased risk of breast cancer in Russia, Belarus and Ukraine, but its role in prostate cancer etiology and survival has not been investigated yet. METHODS: To establish whether the Q548X allele of the BLM gene is present in Poland, and whether this allele predisposes to poor prognosis prostate cancer, we genotyped 3337 men with prostate cancer and 2604 controls. RESULTS: Q548X was detected in 13 of 3337 (0.4%) men with prostate cancer compared to 15 of 2604 (0.6%) controls (OR=0.7; 95% CI 0.3-1.4). A positive family history of any cancer in a first- or second-degree relative was seen only in 4 of the 13 (30%) mutation positive families, compared to 49% (1485/3001) of the non-carrier families (p=0.3). The mean follow-up was 49months. Survival was similar among carriers of Q548X and non-carriers (HR=1.1; p=0.9). The 5-year survival for men with a BLM mutation was 83%, compared to 72% for mutation-negative cases. CONCLUSIONS: BLM Q548X is a common founder mutation in Poland. We found no evidence that this mutation predisposes one to prostate cancer or affect prostate cancer survival. However, based on the observed 0.6% population frequency of the Q548X allele, we estimate that one in 100,000 children should be affected by Bloom syndrome in Poland.

Endoscopic holmium laser treatment for ureterolithiasis.

INTRODUCTION: The rapid development and invention of ever more technologically advanced ureterorenoscopes as well as other instruments used in fragmenting ureteral stones have made the traditional surgical treatment of ureterolithiasis very rare. MATERIAL AND METHODS: We investigated 727 patients treated for ureterolithiasis. 769 ureteroscopic lithotripsies (URSL) with the holmium laser were performed. We evaluated the relation of the stone size, the section of the ureter involved, length of time of the stone within the ureter and the condition of the urinary tract to the results of the ureterolithiasis treatment. RESULTS: A good result of breaking up the stone and passing its fragments out of the ureter within 3 months following the first URSL was observed in 642 (90.9%) out of 706 patients. The remaining 64 (9.1%) patients required additional procedures: ESWL was performed on 44 patients; URSL was repeated for 20 patients. The most serious early post-URSL complications involved: urinary tract infection with symptoms of urosepsis in 10 patients, leading to death in 1 case, ureteral perforation in 3 patients, including 1 case presenting a periureteral leak that necessitated a surgical intervention. CONCLUSIONS: URSL with the holmium laser is an effective and safe method for treating ureterolithiasis.