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1.
Front Genet ; 10: 1237, 2019.
Article in English | MEDLINE | ID: mdl-31921291

ABSTRACT

Bladder cancer (BC), the most frequent malignancy of the urinary system, is ranked the sixth most prevalent cancer worldwide. Of all newly diagnosed patients with BC, 70-75% will present disease confined to the mucosa or submucosa, the non-muscle-invasive BC (NMIBC) subtype. Of those, approximately 70% will recur after transurethral resection (TUR). Due to high rate of recurrence, patients are submitted to an intensive follow-up program maintained throughout many years, or even throughout life, resulting in an expensive follow-up, with cystoscopy being the most cost-effective procedure for NMIBC screening. Currently, the gold standard procedure for detection and follow-up of NMIBC is based on the association of cystoscopy and urine cytology. As cystoscopy is a very invasive approach, over the years, many different noninvasive assays (both based in serum and urine samples) have been developed in order to search genetic and protein alterations related to the development, progression, and recurrence of BC. TERT promoter mutations and FGFR3 hotspot mutations are the most frequent somatic alterations in BC and constitute the most reliable biomarkers for BC. Based on these, we developed an ultra-sensitive, urine-based assay called Uromonitor®, capable of detecting trace amounts of TERT promoter (c.1-124C > T and c.1-146C > T) and FGFR3 (p.R248C and p.S249C) hotspot mutations, in tumor cells exfoliated to urine samples. Cells present in urine were concentrated by the filtration of urine through filters where tumor cells are trapped and stored until analysis, presenting long-term stability. Detection of the alterations was achieved through a custom-made, robust, and highly sensitive multiplex competitive allele-specific discrimination PCR allowing clear interpretation of results. In this study, we validate a test for NMIBC recurrence detection, using for technical validation a total of 331 urine samples and 41 formalin-fixed paraffin-embedded tissues of the primary tumor and recurrence lesions from a large cluster of urology centers. In the clinical validation, we used 185 samples to assess sensitivity/specificity in the detection of NMIBC recurrence vs. cystoscopy/cytology and in a smaller cohort its potential as a primary diagnostic tool for NMIBC. Our results show this test to be highly sensitive (73.5%) and specific (93.2%) in detecting recurrence of BC in patients under surveillance of NMIBC.

2.
Arch Esp Urol ; 67(8): 714-7, 2014 Oct.
Article in English, Spanish | MEDLINE | ID: mdl-25306992

ABSTRACT

OBJECTIVE: Collecting duct carcinoma of the kidney is a rare and aggressive subtype of renal cell carcinoma with low cancer-specific survival. We reviewed our series of collecting duct tumours retrospectively. METHODS/RESULTS: We performed a retrospective analysis of the collecting duct carcinomas of the kidney treated in our unit between January 2007 and December 2012. The variables analysed were: age, gender, reason for consultation, side affected, ASA score according to anaesthetic risk, surgical treatment, tumour size, Fuhrman grade, lymphovascular invasion, TNM staging (2009 classification), adjuvant treatment and survival time. Four collecting duct carcinomas were identified. Mean patient age was 61 years. Constitutional syndrome and lower back pain were the most frequent reasons for consultation (75%), followed by hematuria. The surgical treatment was laparoscopic radical nephrectomy in 100% of the cases, with lymphadenectomy in 2 patients due to lymph node disease detected on imaging studies. The 4 patients were initially treated with temsirolimus as adjuvant therapy with no response. Two patients were given second-line treatment with sunitinib without any response. All 4 patients died from their disease with a mean survival of 9.5 months (rang: 4-15 months). CONCLUSIONS: Collecting duct carcinoma of the kidney is a rare and aggressive renal parenchymal tumour. Long-term survival rate is low, because the only potentially curative treatment seems to be surgery if it is performed in patients with localised tumours.


Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Kidney Tubules, Collecting , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/therapy , Humans , Kidney Neoplasms/diagnosis , Kidney Neoplasms/therapy , Neoplasm Staging , Nephrectomy , Retrospective Studies
3.
Arch. esp. urol. (Ed. impr.) ; 67(8): 714-717, oct. 2014. ilus, tab
Article in Spanish | IBECS | ID: ibc-129487

ABSTRACT

OBJETIVO: El carcinoma de los conductos colectores es un raro y agresivo subtipo histológico de carcinoma de células renales con baja supervivencia cáncer-específica. Revisamos de manera retrospectiva nuestra serie de tumores del túbulo colector. MÉTODOS/RESULTADOS: Analizamos de manera retrospectiva los carcinomas renales del túbulo colector tratados en nuestra unidad desde enero del 2007 a diciembre del 2012. Las variables analizadas han sido: edad, sexo, motivo de consulta, lado de afectación, puntuación ASA según riesgo anestésico, tratamiento quirúrgico, tamaño del tumor, grado de Fuhrman, invasión linfovascular, estadificación TNM (clasificación 2009), tratamiento adyuvante y tiempo de supervivencia. Se identificaron 4 carcinomas de conductos colectores. La edad media de los pacientes fue de 61 años. El sindrome constitucional y el dolor lumbar fueron los motivos de consulta mas frecuentes (75%), seguido de la hematuria. El tratamiento quirúrgico fue la nefrectomia radical laproscópica en el 100% de los casos, realizandose linfadenectomia en 2 pacientes por afectación ganglionar detectada en estudios de imagen. Como terapia adyuvante, los 4 pacientes fueron tratados inicialmente con temsirolimus sin obtener respuesta. 2 pacientes recibieron tratamiento de segunda línea con sunitinib sin objetivar tampoco respuesta. Los 4 pacientes fallecieron por su enfermedad con una suprevivencia media de 9,5 meses (rango: 4-15 meses). CONCLUSIONES: El carcinoma de células renales del conducto colector es un tumor del parénquima renal raro y agresivo. La tasa de supervivencia a largo plazo es baja, porque el único tratamiento potencialmente curativo parece ser la cirugía si se plantea en pacientes con tumor localizado


OBJECTIVE: Collecting duct carcinoma of the kidney is a rare and aggressive subtype of renal cell carcinoma with low cancer-specific survival. We reviewed our series of collecting duct tumours retrospectively. METHODS/RESULTS: We performed a retrospective analysis of the collecting duct carcinomas of the kidney treated in our unit between January 2007 and December 2012. The variables analysed were: age, gender, reason for consultation, side affected, ASA score according to anaesthetic risk, surgical treatment, tumour size, Fuhrman grade, lymphovascular invasion, TNM staging (2009 classification), adjuvant treatment and survival time. Four collecting duct carcinomas were identified. Mean patient age was 61 years. Constitutional syndrome and lower back pain were the most frequent reasons for consultation (75%), followed by hematuria. The surgical treatment was laparoscopic radical nephrectomy in 100% of the cases, with lymphadenectomy in 2 patients due to lymph node disease detected on imaging studies. The 4 patients were initially treated with temsirolimus as adjuvant therapy with no response. Two patients were given second-line treatment with sunitinib without any response. All 4 patients died from their disease with a mean survival of 9.5 months (range: 4-15 months). CONCLUSIONS: Collecting duct carcinoma of the kidney is a rare and aggressive renal parenchymal tumour. Longterm survival rate is low, because the only potentially curative treatment seems to be surgery if it is performed in patients with localised tumours


Subject(s)
Humans , Male , Female , Middle Aged , Carcinoma/complications , Carcinoma/diagnosis , Carcinoma/surgery , Kidney Neoplasms/diagnosis , Kidney Neoplasms/complications , Hematuria/diagnosis , Chemotherapy, Adjuvant/methods , Chemotherapy, Adjuvant , Carcinoma, Renal Cell/complications , Carcinoma, Renal Cell/diagnosis , Kidney Tubules, Collecting/pathology , Kidney Tubules, Collecting/surgery , Kidney Tubules, Collecting , Retrospective Studies , Low Back Pain/complications , Low Back Pain/etiology , Nephrectomy/methods , Nephrectomy/trends , Hematuria/complications , Carcinoma, Renal Cell/pathology
4.
Can Urol Assoc J ; 8(5-6): E366-70, 2014 May.
Article in English | MEDLINE | ID: mdl-24940468

ABSTRACT

We report 2 patients with ureteral injury after a simple total laparoscopic hysterectomy for uterine myoma with a complete resection of the distal ureter. One patient had unilateral injury and the other 2 patients had bilateral injury. The surgical laparoscopic repair procedure was carried out 3 to 5 days after the injury. Surgery involved intramural dissection of the distal ureteral stump to expose at least 1 cm of the ureter, percutaneous ureteral stent placement, elimination of tension between the proximal ureter and the dissected distal stump, end-to-end anastomosis, and reinsertion of the distal ureter into the bladder muscle layer, which was previously dissected for the anastomosis.

5.
Rev. int. androl. (Internet) ; 12(2): 76-79, abr.-jun. 2014.
Article in Spanish | IBECS | ID: ibc-122535

ABSTRACT

El cáncer testicular bilateral supone el 5% de todos los tumores de testículo. La edad media de aparición es de los 15 a los 35 años, y el 65% de ellos se presentan metacrónicamente. El factor de riesgo más importante en el desarrollo del cáncer testicular bilateral es la presencia de neoplasia intratubular de células germinales. El tratamiento de elección es la orquiectomía radical, aunque en algunos casos seleccionados se puede realizar una cirugía conservadora del testículo. Presentamos un caso de tumor testicular de células germinales bilateral metacrónico y realizamos una revisión de la literatura médica (AU)


Bilateral testicular cancer accounts for 5% of all testicular tumours. The average age of onset is 15-35 years, and 65% of cases are metachronous. The most important risk factor for the development of bilateral testicular cancer is the presence of intratubular germ cell neoplasia. The treatment of choice is radical orchiectomy, although in some selected cases conservative surgery can be performed. We report one case of metachronous bilateral testicular germ cell tumour and conduct a review of the literature


Subject(s)
Humans , Male , Testicular Neoplasms/diagnosis , Neoplasms, Germ Cell and Embryonal/diagnosis , Neoplasms, Second Primary/diagnosis , Orchiectomy , Testosterone/deficiency , Testosterone/therapeutic use , Postoperative Complications
6.
Arch. esp. urol. (Ed. impr.) ; 67(3): 269-276, abr. 2014. ilus, tab
Article in Spanish | IBECS | ID: ibc-121830

ABSTRACT

INTRODUCCIÓN: La elección del tipo de tratamiento ideal para una determinada litiasis es un factor crucial para el éxito del mismo, minimizando el número de intervenciones y complicaciones. Es deseable la determinación a priori de la composición de la litiasis y de su fragilidad, para predecir su comportamiento durante el tratamiento con litotricia extracorpórea (LEOC) y valorar la idoneidad de este, o si se deben emplear otras técnicas. OBJETIVO: Determinar el papel de la densitometría en la predicción de la composición y fragilidad de litiasis que van a ser tratadas con LEOC.MÉTODOS: Estudio experimental, in vitro, prospectivo, y ciego, realizado empleando 193 cálculos urinarios de composición conocida: oxalato cálcico monohidrato (OCM), oxalato cálcico mixtos, ácido úrico y carbonato de apatita, obtenidos mediante expulsión espontánea o cirugía. Éstos son sometidos a densitometría y litotricia extracorpórea. Comparamos el contenido mineral de la litiasis y la densidad mineral de la litiasis de cada grupo de composición para comprobar si son características propias de cada tipo, y correlacionamos estos parámetros con la dosis de energía necesaria para la fragmentación hasta una conminución definida. RESULTADOS: Sólo 53 de los 193 cálculos arrojaron datos que pudiesen ser valorados. Carbonato de apatita ha sido la composición que ha mostrado un mayor contenido y densidad mineral (1,24 gr y 0,47 gr/cm2), seguido de los mixtos de oxalato (0,51/0,26) y úrico (0,52/ 0,15), finalizando con el grupo OCM (0,32/0,05). Sólo la comparación carboapatita-OCM mostró resultados estadísticamente significativos (p<0,05). Los coeficientes de correlación entre contenido (0,347) y densidad mineral (0,424) y la energía empleada para la fragmentación litiásica hasta la conminución definida presentaron significación estadística (p<0,05). CONCLUSIONES: En nuestro estudio el empleo de la densitometría para determinar la composición y fragilidad litiásica no ha mostrado resultados concluyentes dada la escasez de cálculos detectados. Se aprecian no obstante indicios de que, con un diseño diferente, podrían conseguirse resultados de mayor utilidad práctica


INTRODUCTION: The choice of ideal treatment for a given lithiasis is a crucial factor for its success, minimizing the number of interventions and complications. Previous determination of stone composition and its fragility is desirable, to predict its behavior during extracorporeal shock wave lithotripsy and for evaluation of its appropriateness, or to set the indication for other techniques. OBJETIVES: To determine the role of densitometry in the prediction of composition and fragility of urinary lithiasis undergoing SWL. METHODS: Experimental prospective, blinded, in vitro study using 193 urinary calculi of known composition: monohydrated calcium oxalate, mixed calcium oxalate, uric acid, and calcium carbonate, obtained from spontaneous passage or surgery. Densitometry and SWL were performed on them. We compare the mineral composition of the stone and mineral density of each composition group to check if they are characteristic of each type and correlate these parameters with the energy dose required to fragment them down to a given fragment size. RESULTS: Only 53 out of 193 stones showed valuable data. Calcium carbonate was the composition showing grater mineral content and density (1,24 gr and 0,47 gr/cm2), followed by mixed oxalate (0,51/0,26) and uric acid ((0,52/ 0,15), finishing with the monohydrate calcium oxalate group (0,32/0,05). Only the comparison between calcium carbonate and monohydrated calcium oxalate showed statistically significant results (p<0,05). Correlation coefficients between mineral content (0,347) and density (0,424) and the energy used for stone fragmentation to a given fragment size were statistically significant (p<0,05). CONCLUSIONS: In our study, the use of densitometry to determine stone composition and lithiasic fragility did not show conclusive results due to the limited number of calculi tested. Nevertheless, there are signs that, with a different study design, more practically useful results could be achieved


Subject(s)
Humans , Densitometry/methods , Urolithiasis/diagnosis , Kidney Calculi/ultrastructure , Apatites/analysis , Oxalates/analysis , Minerals/analysis
7.
Urolithiasis ; 41(6): 517-22, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23913111

ABSTRACT

UNLABELLED: The lithiasic size is a determining factor in selecting the most suitable treatment, surgical or medical. However, the method for obtaining a reliable lithiasic size is not standardized. Our objetives are to determine the differences between the estimated lithiasic sizes shown by plain radiography test and by computerized axial tomography (CT) scan (using different techniques) in relation to the actual size, and to establish which is the ideal type of imaging for this purpose. We present an in vitro model with lithiasis obtained in cooperation with four centers. INCLUSION CRITERIA: lithiasis >0.5 cm, intact, and visible via simple radiography. A sample of 245 lithiases was obtained, with 87 rejected as they did not fulfill the inclusion criteria. Initially the three main actual diameters of each lithiasis were measured with a calibrator, then a plain X-ray and a CT scan were taken of the samples to determine the surface size in cm(2) for simple radiography; surface size and volume in cm(3) for CT scan, in bone window and soft tissue (Toshiba Aquillion 64, sections of 0.5 mm, 120 Kv, 250 mA). The tomographic area was calculated by employing the formula recommended by the European Association of Urology and scanner software. The actual, radiographic and tomographic measurements were taken by three different researchers who were unaware of the results obtained by the each other. The statistics program IBM SPSS Statistics(®) 19 was used. Differences were analyzed using the Wilcoxon sign test. The bone window CT scan slightly overestimated the actual lithiasic size (0.12 vs. 0.17 cm(3)), while in soft tissue window the actual volume was practically doubled (0.12 vs. 0.21 cm(3)) (p < 0.05). We did not find statistically significant differences in the comparison between actual surface size (0.39 cm(2)) and bone window CT scan size when using the EAU formula or scanner software (0.36/0.37 cm(2)). Resulting measurements in soft tissue window tended to significantly overestimate the surface size, although only slightly (0.42/0.44 cm(2)), whilst the plain radiography underestimated it slightly but significantly (0.37 cm(2)). CT scan, using the bone window, is the technical methodology with which the greatest in vitro accuracy in which actual lithiasis measurements can be estimated, although the craniocaudal diameter measurement will be overestimated. Using soft tissue window gives an overestimated size.


Subject(s)
Lithiasis/diagnostic imaging , Multicenter Studies as Topic , Randomized Controlled Trials as Topic , Humans , Multicenter Studies as Topic/methods , Randomized Controlled Trials as Topic/methods , Reference Standards , Tomography, X-Ray Computed/methods
8.
Arch. esp. urol. (Ed. impr.) ; 54(2): 170-173, mar. 2001.
Article in Es | IBECS | ID: ibc-1553

ABSTRACT

OBJETIVOS: Descripción de un nuevo caso clínico de Schwannoma retroperitoneal. MÉTODOS: Presentamos un caso clínico de tumoración retroperitoneal en una paciente de 29 años y la actitud terapéutica seguida ante el mismo. RESULTADOS: El estudio anatomopatológico evidenció la presencia de un Schwannoma sin signos de malignidad. CONCLUSIONES: El Schwannoma retroperitoneal es una patología infrecuente. El diagnóstico preoperatorio es difícil y su tratamiento es la exéresis quirúrgica.imagen fiable, sin olvidar la sintomatología clínica y exploración física, para realizar el diagnóstico diferencial con la torsión testicular. Todo ello ha de poder evitar la exploración quirúrgica, si bien la más mínima duda no ha de demorar la escrototomía exploradora. Y, por último, la excelente respuesta al tratamiento esteroideo (AU)


Subject(s)
Adult , Female , Humans , Neurilemmoma , Retroperitoneal Neoplasms
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