Correlation of mRNA-PCA3 urine levels with the new grading system in prostate cancer / Correlación de mRNA-PCA3 en orina con el nuevo sistema de gradación de cáncer de próstata

Purpose: To evaluate the PCA3 (Prostate Cancer 3 gene) as a tool to improve prostate cancer (PCa) screening and its capability to predict PCa aggressiveness. Patients and methods: A retrospective study with data from consecutive patients with suspected PCa seen in the urology department between November 2009 and April 2016 and who were candidates for prostate biopsy. A total of 1038 urine samples were tested in our laboratory with a kit that generated a PCA3 score (s-PCA3). A prostate biopsy was recommended only in those patients with s-PCA3≥35. Associations between variables were analyzed using the R software. Results: In patients with a positive s-PCA3 (44.5%), a subsequent biopsy was recommended. Of a total of 151 biopsies studied, 56.3% yielded a diagnosis of PCa. The probability of a positive biopsy increased as the s-PCA3 increased (p=0.041). The percentage of affected cylinders increased as the s-PCA3 increased (p=0.015). A statistically significant relationship was observed between s-PCA3 and both the Gleason score and the Grade Group (p=0.001 and 0.008, respectively). The best log-linear models and a logistic model confirmed the relationships shown previously with Fisher's exact tests. Conclusions: S-PCA3 may serve as an additional marker to reduce the indication for biopsies and avoid overdiagnosis and overtreatment of patients with suspected PCa. The prognostic significance of s-PCA3 was confirmed, as it was associated with tumor volume and Gleason score. Importantly, to our knowledge this is the first time that an association has been demonstrated between s-PCA3 and the new Grade Group

Objetivo: Evaluar el estudio de PCA3 (gen Prostate Cancer 3) en orina como test complementario para mejorar el cribado de cáncer de próstata (CaP), así como su capacidad de predecir la agresividad tumoral antes de la biopsia. Pacientes y métodos: En este estudio retrospectivo se incluyeron pacientes consecutivos con sospecha de CaP y candidatos a biopsia, que se presentaron en la consulta del urólogo entre noviembre de 2009 y abril de 2016. Se testaron en nuestro laboratorio un total de 1.038 muestras de orina con un kit que generó un PCA3 score (s-PCA3). Se recomendó la biopsia en aquellos pacientes con s-PCA3≥35. Las asociaciones entre variables se analizaron con el software R. Resultados: En los pacientes con s-PCA3 positivo (44,5%) se recomendó la realización de una biopsia. Se estudiaron un total de 151 biopsias de las que un 56,3% fueron diagnosticadas de CaP. La probabilidad de obtener una biopsia positiva aumentó a medida que lo hacia el s-PCA3 (p=0,041). El porcentaje de cilindros afectados aumentó a medida que lo hacía el s-PCA3 (p=0,015). El s-PCA3 presentó una relación estadísticamente significativa con el grado de Gleason (p=0,001) y el grado grupo (p=0,008). El mejor modelo Log-lineal, así como el modelo logístico confirmaron las relaciones observadas previamente con las pruebas exactas de Fisher. Conclusiones: El s-PCA3 es una herramienta complementaria que permite reducir la indicación de biopsias y evitar el sobrediagnóstico y sobretratamiento de pacientes con sospecha de CaP. La significación pronóstica del s-PCA3 fue confirmada al demostrarse su asociación con el volumen tumoral y el grado de Gleason. Según la información de la que disponemos, este es el primer estudio en el que se demuestra la asociación entre el s-PCA3 y el nuevo sistema de gradación del CaP

Síndrome de Zinner en paciente afecto de síndrome de Kallmann: rara asociacion de 2 malformaciones embrionarias / Zinner syndrome in a patient with Kallmann syndrome: a rare combination of 2 embryonic malformations

La asociación entre agenesia renal y quiste seminal ipsilateral (síndrome de Zinner) es una anomalía congénita poco común. Su asociación a otras malformaciones embrionarias es aún menos frecuente. Presentamos el caso de un varón de 20años con síndrome de Kallmann en tratamiento hormonal, que fue diagnosticado de síndrome de Zinner a raíz de dolor testicular bilateral y dispareunia de 3años de evolución. Tras realizarse la exéresis por vía laparoscópica de la vesícula seminal afectada, el paciente quedó asintomático, manteniendo una eyaculación y función eréctil normales (AU)

The relationship between renal agenesis and ipsilateral seminal cyst (Zinner syndrome) is a rare congenital anomaly. Its relationship with other embryonic malformations is even rarer. The case is presented of a 20-year-old male with Kallmann syndrome who was diagnosed with Zinner syndrome due to have bilateral testicular pain and dyspareunia of 3 years onset. After the laparoscopic excision was performed on the seminal vesicle affected, the patient became asymptomatic, maintaining normal ejaculation and correct erectile function (AU)

ERG expression and prostatic adenocarcinoma.

ERG gene rearrangement has been identified as a highly specific alteration that is present in 40-50 % of prostate carcinomas. The standardization of an immunohistochemical assay with a novel anti-ERG antibody recently described would have significant diagnostic value. The aims of this study were to identify the incidence of this rearrangement in a Spanish population and to test the specificity of immunohistochemical ERG evaluation for prostate carcinomas. Three prostate tissue microarrays were constructed using radical prostatectomy specimens and related to grade, local invasion, and regional invasion. In addition to samples from malignant cases (160), specimens of prostatic hyperplasia (26) and high-grade prostatic intraepithelial neoplasia (10) were included. Tissue microarrays of 270 samples from most common malignant tumors (breast, colon, lung, and bladder) were also tested. All were analyzed by immunohistochemistry. Seventy-five out of 154 evaluable cases (49 %) of prostate carcinoma showed ERG expression; 52/75 showed strong staining. No ERG expression was observed in any of the high-grade prostatic intraepithelial neoplasia. ERG expression was independent of Gleason score (p = 0.160), extent of invasion (p = 0.517), and regional lymph node involvement (p = 0.816). No ERG expression was found in any other type of tumor, with the exception of one bladder cancer sample that showed focal and weak expression. The frequency of ERG detected in our study correlated with the results published for other Caucasian populations. Strong ERG protein expression was exclusively detected in prostate carcinomas, corroborating the specificity of ERG rearrangements for these tumors. Thus, detecting ERG using immunohistochemistry may be useful in routine practice in pathology departments.

Genetic and immunophenotype analyses of TP53 in bladder cancer: TP53 alterations are associated with tumor progression.

Altered p53 status is a frequent event in bladder cancer and reported to have prognostic significance. We studied the TP53 gene and its product in 76 patients affected with urinary bladder carcinomas by immunohistochemistry (mAb DO-7), polymerase chain reaction single-strand conformational polymorphism (exons 4-8) followed by direct sequencing of shifted bands, and loss of heterozygosity in 17p (p53CA). H-RAS mutations were also studied. The receiver operating characteristic curve and the logistic-regression analysis were used to evaluate the validity of immunohistochemistry in predicting TP53 mutations. A p53-positive nuclear phenotype was defined by a cutoff of 20% tumor cells being immunoreactive and was found in 23 cases, while TP53 mutations were detected in 22 cases, four of them with a negative p53 phenotype. TP53 deletions were identified in 23 cases. No H-RAS gene mutations were observed. There was a significant association between phenotype and genotype results. Moreover, a significant association was observed between p53 status and tumor stage and grade, being alterations more common in high-stage and high-grade tumors (both chi2 test; P < .01). Deletion of 17p significantly correlated with tumor stage (P < .01) and grade (P = .01), allelic losses being more common in advanced disease. Data from these studies suggest that genetic assays are necessary for the optimal determination of TP53 alterations, mainly in tumors with a p53 negative phenotype, and especially in early stage tumors for which p53 status may assist in determining its progression to invasive disease. Since p53 alterations are significantly associated to clinicopathological features of poor prognosis, the inclusion of both p53 phenotype and TP53 mutation status into a predictive panel of tumor markers for bladder cancer is recommended.