[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.

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.

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.

[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.

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.