Diagnóstico inesperado de nefronoptisis en estudio genético de hipertensión por diagnóstico histológico de nefroangioesclerosis benigna evolucionada en paciente joven caucásico / Unexpected diagnosis of nephronopthisis in the genetic study of hypertension due to histological diagnosis of benign nephroangioesclerosis evolved in a young caucasian patient

Se presenta el caso de un paciente joven de raza caucásica, con una enfermedad renal de causa no clara, con un diagnóstico final establecido por biopsia renal de nefroangioesclerosis benigna evolucionada. Debido a la posibilidad de haber tenido hipertensión arterial en edad pediátrica (sin estudio ni tratamiento), con los hallazgos de biopsia renal, el estudio genético de hipertensión mostró polimorfismos de riesgo en los genes APOL1 y MYH9 y, además, un diagnóstico inesperado de una deleción completa del gen NPHP1 en homocigosis, asociada al desarrollo de nefronoptisis. En conclusión, este caso ilustra la importancia de hacer estudio genético, sobre todo en pacientes jóvenes con enfermedad renal de causa no clara, incluso teniendo un diagnóstico histológico de nefroangioesclerosis. (AU)

We present the case of a young Caucasian patient with renal disease of unclear cause, with a final diagnosis of advanced benign nephroangiosclerosis established by renal biopsy. Due to the possibility of having hypertension in pediatric age (without study or treatment), with the renal biopsy findings, the genetic study showed polymorphisms risk in the APOL1 and MYH9, and also an unexpected diagnosis of a complete deletion of the NPHP1 gene in homozygosis, associated with the development of nephronophthisis. In conclusion, this case illustrates the importance of carrying out a genetic study in youngs patients with renal disease unclear cause, even having a histological diagnosis of nephroangiosclerosis. (AU)

[Unexpected diagnosis of nephronopthisis in the genetic study of hypertension due to histological diagnosis of benign nephroangioesclerosis evolved in a young caucasian patient]. / Diagnóstico inesperado de nefronoptisis en estudio genético de hipertensión por diagnóstico histológico de nefroangioesclerosis benigna evolucionada en paciente joven caucásico.

We present the case of a young Caucasian patient with renal disease of unclear cause, with a final diagnosis of advanced benign nephroangiosclerosis established by renal biopsy. Due to the possibility of having hypertension in pediatric age (without study or treatment), with the renal biopsy findings, the genetic study showed polymorphisms risk in the APOL1 and MYH9, and also an unexpected diagnosis of a complete deletion of the NPHP1 gene in homozygosis, associated with the development of nephronophthisis. In conclusion, this case illustrates the importance of carrying out a genetic study in youngs patients with renal disease unclear cause, even having a histological diagnosis of nephroangiosclerosis.

Modelo murino experimental de cáncer renal / Experimental murine model of renal cancer

Introducción: El objetivo fue conocer la reproductibilidad en modelo murino de tumores renales de diferentes estirpes histológicas que podría ser útil para investigar la respuesta a fármacos diana. Material y métodos: Desarrollo y análisis del modelo in vivo: xenoinjerto tumoral de carcinoma de células renales con ratones atímicos nude Balb/c. Se implanta tejido renal humano no tumoral en la región interescapular de 5 ratones, tumor renal tipo cromófobo en 5 ratones que tras comprobarse su crecimiento se preparó para implante en otros 10 ratones y tumor renal tipo carcinoma renal de células claras (CRCC) Fuhrman 2 en 5 ratones que también se implantó posteriormente en 10 ratones. Se monitoriza el tamaño tumoral, la aparición de metástasis y el aumento de tamaño y número de las mismas. Cuando alcanza tamaño igual o superior a carcinoma localmente avanzado o metastásico los animales son sacrificados para estudio anatomopatológico, inmunohistoquímico y segunda fase de implante. Resultados: El xenoinjerto subcutáneo del tejido sano no creció, se sacrificaron a los 6 meses sin hallar tejido renal. El carcinoma renal de células cromófobas creció en la primera fase (100%), pero en la segunda fase se observó reacción inflamatoria crónica linfomonocitaria y a cuerpo extraño. El CRCC creció a los 5-8 meses, tanto en la primera como en la segunda fase (100%), manteniendo el tipo y el grado tumoral. Conclusiones: El modelo con ratones atímicos nude Balb/c es útil para reproducir CRCC, con las mismas características y agresividad histológica al tumor humano nativo, alentando al desarrollo de la segunda fase experimental

Introduction: The objective of this study was to determine the reproducibility in a murine model of renal tumours of various histological strains that could be useful for investigating the response to target drugs. Material and methods: Development and analysis of the «in vivo» model: tumour xenograft of renal cell carcinomas with Balb/c nude athymic mice. Nontumourous human renal tissue was implanted in the interscapular region of 5 mice, chromophobe renal cell carcinoma was implanted in 5 mice (which, after checking its growth, was prepared for implantation in another 10 mice) and Fuhrman grade 2 clear cell renal cell carcinoma (CCRCC) was implanted in 5 mice (which was also subsequently implanted in 10 mice). We monitored the tumour size, onset of metastases and increase in size and number of tumours. When the size had reached a point greater than or equal to locally advanced or metastatic carcinoma, the animals were euthanised for a pathological and immunohistochemical study and a second phase of implantation. Results: The subcutaneous xenograft of the healthy tissue did not grow. The animals were euthanised at 6 months and no renal tissue was found. The chromophobe renal cell carcinoma cells grew in the initial phase (100%); however, in the second phase, we observed a chronic lymphomonocyte inflammatory reaction and a foreign body reaction. The CCRCC grew at 5-8 months both in the first and second phase (100%), maintaining the tumour type and grade. Conclusions: The model with athymic Balb/c nude mice is useful for reproducing CCRCC, with the same histological characteristics and aggressiveness as native human tumours, promoting the development of the second experimental phase

Experimental murine model of renal cancer. / Modelo murino experimental de cáncer renal.

INTRODUCTION: The objective of this study was to determine the reproducibility in a murine model of renal tumours of various histological strains that could be useful for investigating the response to target drugs. MATERIAL AND METHODS: Development and analysis of the "in vivo" model: tumour xenograft of renal cell carcinomas with Balb/c nude athymic mice. Nontumourous human renal tissue was implanted in the interscapular region of 5 mice, chromophobe renal cell carcinoma was implanted in 5 mice (which, after checking its growth, was prepared for implantation in another 10 mice) and Fuhrman grade 2 clear cell renal cell carcinoma (CCRCC) was implanted in 5 mice (which was also subsequently implanted in 10 mice). We monitored the tumour size, onset of metastases and increase in size and number of tumours. When the size had reached a point greater than or equal to locally advanced or metastatic carcinoma, the animals were euthanised for a pathological and immunohistochemical study and a second phase of implantation. RESULTS: The subcutaneous xenograft of the healthy tissue did not grow. The animals were euthanised at 6 months and no renal tissue was found. The chromophobe renal cell carcinoma cells grew in the initial phase (100%); however, in the second phase, we observed a chronic lymphomonocyte inflammatory reaction and a foreign body reaction. The CCRCC grew at 5-8 months both in the first and second phase (100%), maintaining the tumour type and grade. CONCLUSIONS: The model with athymic Balb/c nude mice is useful for reproducing CCRCC, with the same histological characteristics and aggressiveness as native human tumours, promoting the development of the second experimental phase.

Plurihormonal Cosecretion by a Case of Adrenocortical Oncocytic Neoplasm.

Adrenocortical oncocytic neoplasms (oncocytomas) are extremely rare; only approximately 159 cases have been described so far. The majority are nonfunctional and benign. We describe an unusual case of a functional oncocytoma secreting an excess of glucocorticoids (cortisol) and androgens (androstenedione and DHEAS), a pattern of plurihormonal cosecretion previously not reported in men, presenting with endocrine manifestations of Cushing's syndrome. The neoplasm was considered to be of uncertain malignant potential (borderline) according to the Lin-Weiss-Bisceglia criteria.

Clinical profile and epidemiological changes of clear cell renal carcinoma during 12 years in our health area.

OBJECTIVES: To investigate changes in the epidemiology and clinical profile of patients diagnosed with renal clear cell carcinoma in a community health area over 12 years. METHODS: Retrospective analysis of epidemiological characteristics and clinical profile of patients diagnosed with renal clear cell carcinoma in a health area composed of a population of 353.619 inhabitants from January 1999 to December 2010. Descriptive statistical and multivariate analysis, Fisher exact test and Chi-Square were utilized. p<0.05 was accepted as significant. RESULTS: 349 diagnoses of renal mass were reported; 165 of them were clear renal cell carcinoma. Median age was 70.41 years, and the Female/Male rate was 28% and 72%, respectively. 4% women and 30% men smoked ≥20 cigarettes/day, more frequently during the period 1999-2001. 52% women and 30% men had hypertension. Hematuria was the most frequent symptom (23%), more frequent in the period 2007-2010, followed by abdominal pain (16%) and renal colic(13%). Weight loss (12%) was more frequent between 1999-2000. Asthenia appeared as the first symptom in 8% of cases. The tumor was incidentally diagnosed in 20% of cases, more frequently in the period between 2007-2010. Diagnosis was established in the Urology Department in 36% of the cases. Stages T1-2 N0 were more frequent between 2007-2010, and M1 between 1999-2000. G3 was more frequent in the entire series. The relative cancer specific mortality of patients who were surgically treated was less in the last 2 years of the period. CONCLUSIONS: Clear renal cell carcinoma is the most frequent renal cancer and its incidence is increasing in our environment. It affects more frequently males than females, and at an earlier age. The last few years are showing a decrease in the habitual smoker males and an increase in HTN in females. A tendency has been detected to the early stage clinical diagnosis but with a higher histopathological grade. It is most frequent diagnosed by a non-Urology speciality.

Perfil clínico y cambios epidemiológicos del carcinoma renal de células claras a lo largo de 12 años en un área de salud / Clinical profile and epidemiological changes of clear cell renal carcinoma during 12 years in our health area

OBJETIVO: Investigar si se producen cambios en la epidemiología y en el perfil clínico de los pacientes diagnosticados de carcinoma renal de células claras (CRCC) en un área de salud a lo largo de 12 años. MÉTODOS: Se realiza un análisis retrospectivo de las características epidemiológicas y del perfil clínico (sexo, edad, factores de riesgo, estadio tumoral y supervivencia) de los pacientes diagnosticados de CRCC en un área de salud de 353619 habitantes desde enero de 1999 hasta diciembre de 2010. Se utiliza estadística descriptiva, t de Student, test exacto de Fisher y Chi-Square. p<0.05 se aceptó como significativo(AU)

RESULTADOS: Se emitieron 349 diagnósticos de masa renal, de los cuales 165 casos corresponden a CRCC. La edad media fue de 70.41 años, y la distribución mujeres/varones fue 28/72%. El consumo de ≥20 cigarillos/día se presentó en el 4% de las mujeres y en el 30% de los hombres, siendo más frecuente en 1999-2001. El 52% de las mujeres y el 30 % de los hombres padecían hipertensión arterial (HTA). La hematuria fue el síntoma más frecuente, apareciendo en un 23%, más frecuente en 2007-2010 (p<0.034). Los siguientes síntomas en frecuencia fueron el dolor abdominal (16%) y las crisis renoureterales (13%). La pérdida de peso (12%) fue más frecuente entre los años 1999 y 2000. La astenia apareció como síntoma primero en un 8% de casos. El diagnóstico fue incidental en un 20% de los casos, más frecuente entre los años 2007 y 2010 (p<0.0081).Conocido tradicionalmente como el tumor del internista, corroboramos que solo el 36% de estos tumores fueron diagnosticados en Urología y el 64% en otras especialidades. En cuanto al estadio, T1-T2 y N0 fueron más frecuentes en los últimos 4 años respecto a 1999-2006 (p<0.016 y p<0.0002 respectivamente). M1 fue más frecuente que M0 en 1999-2000 (p<0.0021) y M0 más frecuente en 2004-2010 (p<0.0038). G3 fue más frecuente en toda la serie, más acentuado en 2008-2010 (p<0.0186). La mortalidad relativa cáncer-específica de los pacientes tratados quirúrgicamente fue menor en los dos últimos años del periodo (p<0.0314). CONCLUSIONES: El CRCC es el cáncer renal más frecuente y con incidencia en aumento en nuestro medio. Afecta más y a menor edad a hombres que a mujeres. En los últimos años se registra menos tabaquismo severo en hombres y más HTA en mujeres. Existe una tendencia al diagnóstico en estadio clínico más precoz pero con mayor grado histopatológico. El diagnóstico se realiza con mayor frecuencia en especialidad no urológica(AU)

OBJECTIVES: To investigate changes in the epidemiology and clinical profile of patients diagnosed with renal clear cell carcinoma in a community health area over 12 years. METHODS: Retrospective analysis of epidemiological characteristics and clinical profile of patients diagnosed with renal clear cell carcinoma in a health area composed of a population of 353.619 inhabitants from January 1999 to December 2010. Descriptive statistical and multivariate analysis, Fisher exact test and Chi-Square were utilized. p<0.05 was accepted as significant. RESULTS: 349 diagnoses of renal mass were reported; 165 of them were clear renal cell carcinoma. Median age was 70.41 years, and the Female/Male rate was 28% and 72%, respectively. 4% women and 30% men smoked ≥20cigarettes/day, more frequently during the period 1999-2001. 52% women and 30% men had hypertension. Hematuria was the most frequent symptom (23%), more frequent in the period 2007-2010, followed by abdominal pain (16%) and renal colic (13%). Weight loss (12%) was more frequent between 1999-2000. Asthenia appeared as the first symptom in 8% of cases. The tumor was incidentally diagnosed in 20% of cases, more frequently in the period between 2007-2010.Diagnosis was established in the Urology Department in 36% of the cases. Stages T1-2 N0 were more frequent between 2007-2010, and M1 between 1999-2000. G3 was more frequent in the entire series. The relative cancer specific mortality of patients who were surgically treated was less in the last 2 years of the period(AU)

CONCLUSIONS: Clear renal cell carcinoma is the most frequent renal cancer and its incidence is increasing in our environment. It affects more frequently males than females, and at an earlier age. The last few years are showing a decrease in the habitual smoker males and an increase in HTN in females. A tendency has been detected to the early stage clinical diagnosis but with a higher histopathological grade. It is most frequent diagnosed by a non-Urology speciality(AU)

Paraganglioma of prostatic origin.

INTRODUCTION: Paragangliomas are usually benign tumors arising from chromaffin cells located outside the adrenal gland. Prostatic paraganglioma is an unusual entity in adult patients, with only 10 cases reported in the medical literature. CASE REPORT: A 34-year-old male with a history of chronic prostatitis consulted for perineal pain. On digital rectal examination the prostate was enlarged and firm, without nodules. The PSA level was 0.8 ng/mL and the catecholamines in the urine were elevated. On ultrasound a retrovesical 9 cm mass of undetermined origin measuring was present. A PET-CT scan showed a pelvic lesion measuring 9 cm with moderate increase in glucidic metabolism localized in the area of the prostate. A biopsy of the prostate revealed a neuroendocrine tumor, possibly a prostatic paraganglioma. A body scintigraphy with MIBG I-123 ruled out the presence of metastases or multifocal tumor. A radical prostatectomy with excision of the pelvic mass was performed under adrenergic blockade. One year after surgery the patient is asymptomatic and disease free. DISCUSSION/CONCLUSIONS: Prostatic paraganglioma is a rare, usually benign tumor, which should be considered in the differential diagnosis of prostate tumors in young males. Its diagnosis is based on the determination of catecholamine in blood and 24-hour urine and in imaging studies principally scintigraphy with MIBG I-123. Diagnostic confirmation is by histopathological study. The treatment consists of radical resection under adrenergic blockade and volume expansion. Given the limited number of cases reported, it is difficult to establish prognostic factors. Malignancy is defined by clinical criteria, and requires life long follow-up.

[Extramedullary plasmacytoma of the head and neck. Report of 3 clinical cases]. / Plasmocitoma extramedular de cabeza y cuello. Presentación de 3 casos clínicos.

Plasmocytomas are neoplasic disorders arising from plasma cells that include Multiple Myeloma (MM) Solitary Plasmocytoma of the bone and Extramedullary Plasmacytoma (EMP). EMP are solitary tumours consisting of plasma cell proliferation that occurs in locations other than bone. A variable percentage may be associated at a later date with the development of MM. EMP represent up to 4% of nonepithelial tumours of the upper respiratory tract. They generally occur in the submucosal tissue of the upper airways (80% of cases), with a predilection for nasopharynx, nasal cavity, paranasal sinuses and tonsils. We report 3 cases of Extramedullary Plasmocytoma located one in the upper respiratory tract. All the patients underwent surgical resection or biopsy of the lesion that allowed the histological study, which showed a plasma cell proliferation. Serum and bone marrow studies conclude the diagnosis of Extramedullary Plasmocytoma. The treatment was radiotherapy, with or without previously surgery. Three patients are currently under close follow-up and no evidence of recurrence has been found. We review the clinic, diagnostic, therapeutic and prognostic aspects of this kind of tumours.

Plamocitoma extramedular de cabeza y cuello. Presentación de 3 casos clínicos / 3 cases of extramedullary plasmocytomas of the head and neck

Los plasmocitomas son neoplasias que derivan de las células plasmáticas, que incluyen el mieloma múltiple (MM), el plasmocitoma solitario de hueso y el plasmocitoma extramedular (PEM). Los PEM son tumores solitarios que consisten en una proliferación de células plasmáticas localizadas en lugares distintos del hueso. Un porcentaje variable puede desarrollar con posterioridad un MM. Representan más de un 4 por ciento de los tumores no epiteliales del tracto respiratorio superior. Generalmente se desarrollan en el tejido submucoso de vías aéreas superiores (80 por ciento de los casos), con predilección por la nasofaringe, las fosas nasales, los senos paranasales y las amígdalas. Presentamos los casos clínicos de tres pacientes diagnosticados de PEM localizados en vías aerodigestivas superiores en nuestro Servicio. En los tres casos la resección o la biopsia de la tumoración permitió su estudio histológico en el que se observó una proliferación de células plasmáticas. Los estudios séricos y de médula ósea permitieron concluir el diagnóstico. El tratamiento se realizó con cirugía y radioterapia en 2 casos, y exclusivamente con radioterapia en el tercero de ellos. Los pacientes son sometidos a revisiones periódicas, no habiéndose observado recurrencia de la enfermedad. Llevamos a cabo una revisión de los aspectos clínicos, diagnósticos terapéuticos y pronósticos de este tipo de tumores (AU)

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Plasmocitoma extramedular de cabeza y cuello. Presentación de 3 casos clínicos / 3 Cases of extramedullary plasmocytomas of the head and neck

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