An atypical presentation of renal mass associated with BAP-1 tumor predisposition syndrome: Case report and review of literature.

BCRA-associated protein-1 (BAP-1) mutation has been associated with the development of a familiar syndrome that predisposes to tumors with a higher incidence than in general population, including melanoma and renal carcinoma. We report a 47-year-old woman diagnosed with a BAPoma (melanocytic tumor characterized by the loss of BAP-1). Due to her extensive family history with multiple neoplasms, a FDG PET-CT was performed. Consequently, she was diagnosed with an atypical renal mass, which is rarely linked to this syndrome. We review and discuss the available literature on the screening, diagnosis and treatment of renal tumors associated with BAP-1 tumor predisposition syndrome.

Rotación de los cuerpos cavernosos para el tratamiento de la incurvación peneana congénita / Rotation of the corpora cavernosa for the treatment of congenital penile curvature

Introducción: La incurvación peneana congénita (IPC) está originada por una alteración en el desarrollo embrionario de la uretra y los cuerpos cavernosos. Condiciona dificultad para la penetración, precisando corrección quirúrgica cuando imposibilita el coito. Material y métodos: Presentamos 2 varones en la 4.ª década de la vida que presentan incurvación ventral superior a 60° de 2 años de evolución con erecciones mantenidas. Los pacientes fueron sometidos a cirugía de rotación de los cuerpos cavernosos. Tras la denudación completa del pene se realiza la liberación atérmica del paquete vasculonorvioso del pene desde la cara ventral hasta la dorsal. Una vez evidenciada la incurvación mediante una erección artificial se realiza una incisión en la albugínea de ambos cuerpos cavernosos, suturando de forma continua con monofilamento reabsorbible ambos bordes internos y externos. Posteriormente se comprueba la rectificación de la incurvación y se reconstruye el plano mucocutáneo. Resultados: El tiempo quirúrgico fue de 120 min, no existiendo complicaciones intraoperatorias. Ambos pacientes fueron dados de alta a las 24 h de la intervención. A la semana presentaban erecciones nocturnas espontáneas, pudiendo mantener relaciones sexuales al mes de la intervención. A los 6 meses la incurvación residual era inferior a 20°, el acortamiento peneano inferior al centímetro y el IIEF-5 de 25 en ambos casos. Conclusiones: La cirugía de rotación de los cuerpos cavernosos permite corregir la IPC sin acortamiento peneano significativo ni disfunción eréctil. En nuestra opinión constituye un tratamiento adecuado en pacientes con IPC, necesitándose estudios con seguimientos a largo plazo para considerarla la técnica de elección

Introduction: Congenital penile curvature (CPC) is caused by a disorder in the embryonic development of the urethra and corpora cavernosa. The condition causes difficulty for penetration, requiring surgical correction when it prevents intercourse. Material and methods: We present the cases of 2 men in their 40s who had ventral curvature greater than 60° of 2 years of evolution, with maintained erections. The patients underwent surgery for rotation of the corpora cavernosa. After the complete denudation of the penis, athermal release of the neurovascular bundle of the penis from the ventral side to the dorsal was performed. Once the curvature was verified using artificial erection, an incision was performed in the tunica albuginea of both corpora cavernosa, continuously suturing both internal and external margins with resorbable monofilament. The rectification of the curvature was then checked, and the mucocutaneous plane was reconstructed. Results: The surgical time was 120 minutes and there were no intraoperative complications. Both patients were discharged 24 h after the surgery. At 1 week, the patients experienced spontaneous night-time erections and were able to maintain sexual relations 1 month after the surgery. At 6 months, the residual curvature was less than 20°, the penile shortening was less than 1 centimeter and the International Index of Erectile Function-5 was 25 for both cases. Conclusions: Surgery for rotation of the corpora cavernosa helps correct CPC without significant penile shortening or erectile dysfunction. In our opinion, the procedure is an appropriate treatment for patients with CPC but requires studies with long-term follow-up in order to consider it the technique of choice

Rotation of the corpora cavernosa for the treatment of congenital penile curvature.

INTRODUCTION: Congenital penile curvature (CPC) is caused by a disorder in the embryonic development of the urethra and corpora cavernosa. The condition causes difficulty for penetration, requiring surgical correction when it prevents intercourse. MATERIAL AND METHODS: We present the cases of 2 men in their 40s who had ventral curvature greater than 60° of 2 years of evolution, with maintained erections. The patients underwent surgery for rotation of the corpora cavernosa. After the complete denudation of the penis, athermal release of the neurovascular bundle of the penis from the ventral side to the dorsal was performed. Once the curvature was verified using artificial erection, an incision was performed in the tunica albuginea of both corpora cavernosa, continuously suturing both internal and external margins with resorbable monofilament. The rectification of the curvature was then checked, and the mucocutaneous plane was reconstructed. RESULTS: The surgical time was 120minutes and there were no intraoperative complications. Both patients were discharged 24h after the surgery. At 1 week, the patients experienced spontaneous night-time erections and were able to maintain sexual relations 1 month after the surgery. At 6 months, the residual curvature was less than 20°, the penile shortening was less than 1 centimeter and the International Index of Erectile Function-5 was 25 for both cases. CONCLUSIONS: Surgery for rotation of the corpora cavernosa helps correct CPC without significant penile shortening or erectile dysfunction. In our opinion, the procedure is an appropriate treatment for patients with CPC but requires studies with long-term follow-up in order to consider it the technique of choice.

Predicting factors for recurrence in low-grade Ta primary bladder tumours.

OBJECTIVES: Ta bladder tumors constitute 53% of primary bladder neoplasms, 70% of them being low-grade (G1). These tumors present a 15- 38% chance of recurrence during the first year. The aim of this paper is to identify the predicting factors of the first recurrence in a series of TaG1 primary bladder tumors. METHODS: We have retrospectively analyzed patients who were diagnosed with TaG1 primary bladder tumor by transurethral resection between 2004 and 2012. We established their tumor grade and pathological stage according to the WHO's classification guides for 1973 and 2004 as well as 2009's TNM. Those patients who were diagnosed before 2009 did not receive any adjuvant treatment. Those who were diagnosed later on received 40 mg of endovesical Mitomycin C during their immediate post operative period as their only treatment. We define recurrence as the presence of tumor after the first cystoscopy and relapse-free survival (RFS) as the period of time (in months) until the first recurrence appeared. Follow up constitutes the period of time (in months) until the last check-up or first recurrence. We also analyzed different variables: age, gender, smoking habits, muscular representation in the sample, size of the tumor (> or < 1 cm), multiple or single tumors and adjuvant treatment. The survival analysis was performed by the Kaplan-Meier method, using the long-rank test to evaluate the differences between groups. RESULTS: 68 patients were included in the study (73.5% men, 75% smokers). The average age was 61.9 years (the median being 58.5). Average follow up was 33.2 months (median 28.4). 35.3% of patients experienced recurrence. Average RFS was 19.2 ± 12.7 months (median 13.5). The majority of tumors were of a single nature (77.9%), with a size of less than 1 cm (55.9%) and with muscle representation (52.9%). 57.4% of patients did not receive adjuvant treatment. Only the absence of adjuvant treatment was associated with recurrence in uni and multivariate analysis (p<0,001), with a relative risk of 17,5 IC95% (7,6-30,2). CONCLUSION: The absence of adjuvant therapy with Mitomycin C is the only factor that, in a statistically significant way, increases the risk of recurrence, regardless of demographic factors and the characteristics of the tumor.

Factores predictores de recidiva en el tumor vesical primario Ta de bajo grado / Predicting factors for recurrence in low-grade Ta primary bladder tumours

OBJETIVO: Los tumores vesicales Ta constituyen el 53% de las neoplasias primarias de la vejiga, siendo el 70% de bajo grado (G1), presentando una probabilidad de recurrencia al primer año del 15-38%. El objetivo de nuestro trabajo es identificar los factores predictivos de primera recidiva de nuestra serie de tumores vesicales primarios TaG1. MÉTODOS: Analizamos retrospectivamente los pacientes diagnosticados mediante RTU de tumor vesical primario TaG1 entre 2004 y 2012. Los pacientes diagnosticados antes de 2009 no recibieron tratamiento adyuvante. Los diagnosticados posteriormente recibieron 40 mg de Mitomicina C endovesical en el postoperatorio inmediato como único tratamiento. Definimos como recidiva la presencia de tumor después de la primera cistoscopia. Definimos como supervivencia libre de recidiva (SLR) el tiempo en meses hasta la primera recidiva y como tiempo de seguimiento el tiempo en meses hasta la última revisión o primera recidiva. Analizamos las variables: edad, sexo, tabaquismo, representación muscular en la muestra, tamaño tumoral (> o < 1 cm), tumor único o múltiple y tratamiento adyuvante. Realizamos un análisis univariado y multivariado mediante chi-cuadrado y regresión logística para identificar las variables relacionadas con la recidiva. Realizamos un análisis de supervivencia mediante el método de Kaplan-Meier, utilizando el test Log-Rank para evaluar las diferencias entre los grupos. RESULTADOS: Incluimos 68 pacientes (73,5% varones, 75% fumadores). La edad media fue 61,9 años (mediana 58,5). El seguimiento medio fue 33,2 meses (mediana 28,4). El 35,3% de los pacientes recidivaron. La SLR media fue 19,2±12,7 meses (mediana 13,5). La densidad de incidencia de recidiva fue 13,5 recidivas /100 casos/año. Mayoritariamente los tumores fueron únicos (77,9%), <1 cm (55,9%) y con representación muscular (52,9%). El 57,4% de los pacientes no recibieron adyuvancia. Solamente la ausencia de tratamiento adyuvante se asoció con la recidiva en los análisis uni y multivariado (p<0,001), con un riesgo relativo de 17,5 IC95% (7,6-30,2). CONCLUSIONES: La ausencia de adyuvancia con Mitomicina C es el único factor que incrementa de forma estadísticamente significativa el riesgo de recidiva, independientemente de los factores demográficos y características tumorales

OBJECTIVES: Ta bladder tumors constitute 53% of primary bladder neoplasms, 70% of them being low-grade (G1). These tumors present a 15-38% chance of recurrence during the first year. The aim of this paper is to identify the predicting factors of the first recurrence in a series of TaG1 primary bladder tumors. METHODS: We have retrospectively analyzed patients who were diagnosed with TaG1 primary bladder tumor by transurethral resection between 2004 and 2012. We established their tumor grade and pathological stage according to the WHO’s classification guides for 1973 and 2004 as well as 2009’s TNM. Those patients who were diagnosed before 2009 did not receive any adjuvant treatment. Those who were diagnosed later on received 40 mg of endovesical Mitomycin C during their immediate post operative period as their only treatment. We define recurrence as the presence of tumor after the first cystoscopy and relapse-free survival (RFS) as the period of time (in months) until the first recurrence appeared. Follow up constitutes the period of time (in months) until the last check-up or first recurrence. We also analyzed different variables: age, gender, smoking habits, muscular representation in the sample, size of the tumor (> or < 1 cm), multiple or single tumors and adjuvant treatment. The survival analysis was performed by the Kaplan-Meier method, using the long-rank test to evaluate the differences between groups. RESULTS: 68 patients were included in the study (73.5 % men, 75% smokers). The average age was 61.9 years (the median being 58.5). Average follow up was 33.2 months (median 28.4). 35.3% of patients experienced recurrence. Average RFS was 19.2 ± 12.7 months (median 13.5). The majority of tumors were of a single nature (77.9%), with a size of less than 1 cm (55.9%) and with muscle representation (52.9%). 57.4% of patients did not receive adjuvant treatment. Only the absence of adjuvant treatment was associated with recurrence in uni and multivariate analysis (p<0,001), with a relative risk of 17,5 IC95% (7,6-30,2). CONCLUSION: The absence of adjuvant therapy with Mitomycin C is the only factor that, in a statistically significant way, increases the risk of recurrence, regardless of demographic factors and the characteristics of the tumor