A kidney tumor in an adolescent with severe hypertension and hypokalemia: an uncommon case--case report and review of the literature on reninoma.

This report presents a case of a 16-year-old hypertensive boy who presented to our clinic. Laboratory findings showed severe hypokalemia and markedly increased plasma renin activity. Abdominal ultrasonography and contrast-enhanced computed tomography of the abdomen revealed a well-circumscribed, solid, hypoenhancing cortical lesion (2 cm) in the lower pole of the left kidney. The patient underwent nephron-sparing surgery. Histopathologic examination gave a diagnosis of juxtaglomerular cell tumor. Reninoma is an uncommon cause of hypertension in a young adult and should be included in the differential diagnosis as a potential life-threatening and curable condition. The conservative surgical management is the gold standard for small, circumscribed lesions.

Thymidylate synthetase allelic imbalance in clear cell renal carcinoma.

PURPOSE: To investigate the allelic status of the thymidylate synthetase (TYMS) gene, located at chromosome band 18p11.32, in renal cell carcinoma (RCC). TYMS is a key target of the 5-fluorouracil (5-FU)-based class of drugs, frequently considered in combination therapies in advanced RCC. TYMS variants, such as the TYMS polymorphic 5'-untranslated region variable number tandem repeat sequence (VNTR), are under investigation to guide 5-FU treatment. Yet, no information is available with regard to changes in TYMS allele frequencies in RCC malignances. METHODS: Blood and matched tumor samples were collected from 41 histological proven clear cell RCC affected patients (30 males, 11 females.). TYMS VNTR genotype was first determined in blood to identify heterozygotes employing PCR techniques. To evaluate for allelic imbalance, fragment analysis was performed both in blood and matched tumor DNA of the heterozygote patients. Microsatellite analysis, employing the markers D18S59 and D18S476 mapping, respectively, at the TYMS locus (18p11.32) and 1.5 Mb downstream of the TYMS gene sequence (18p11.31), was performed to confirm TYMS allelic imbalance in tumors. RESULTS: Germ-line TYMS VNTR distribution was: 2R/2R (19.5%), TYMS 2R/3R (36.6%) and TYMS 3R/3R (43.9%). Allelic imbalance for the TYMS tandem repeat region was detected in 26.6% of the heterozygote patients. Microsatellite analysis confirmed the allelic imbalance detected by TYMS VNTR analysis and revealed that the overall frequence of allelic imbalance of chromosome band 18p11.32 was 35%, while the overall allelic imbalance of chromosome band 18p11.31 was 28%. CONCLUSIONS: By focusing on the TYMS polymorphic variants in renal cancer, we here provide evidence, to our knowledge, for the first time showing loss of 18p11.32 and 18p11.31 in renal cell carcinomas. As allelic imbalances involving TYMS locus may be an important variable affecting 5-FU responsiveness, this study may contribute to explain different responses of advanced RCC in combined chemotherapeutic regimens incorporating fluoropyridines.

Cardiac metastasis from renal cell carcinoma without inferior vena involvement: a review of the literature based on a case report. Two different patterns of spread?

We report the case of a 59-year-old man with advanced renal cell carcinoma (RCC), without inferior vena cava (IVC) involvement, treated with radical nephrectomy, palliative radiotherapy for bone metastasis, and medical therapy for bone and lung metastases. The patient died of cardiac arrest after evidence of massive malignant pericardial effusion. At autopsy, massive myocardial and pericardial neoplastic invasion was found. Heart involvement via the IVC is a well-known phenomenon during RCC progression, while in the absence of IVC involvement, clinically evident cardiac involvement is exceptional, with few cases reported in the worldwide literature. Analysis of prior reports and of the present case provides evidence on how the cardiac metastasis may have two distinct origins and clinical features. The first is hematogenous, via the IVC, even in the absence of renal vein involvement; it is generally circumscribed and has a good prognosis after surgery. The second is through the intrathoracic lymphatic system, in the presence of disseminated disease, especially pulmonary metastasis, and this type has a very poor prognosis.

A phase II study of gemcitabine at fixed infusion rate of 10 mg/m2/min with or without immunotherapy in advanced renal cancer.

BACKGROUND: Advanced renal cancer remains a challenge for oncologists since no treatment other than surgery has demonstrated a clear survival advantage. PATIENTS AND METHODS: Gemcitabine was given to suitable patients at a fixed infusion rate of 10 mg/m2/min. Eighteen patients received concomitant immunotherapy, mostly low doses of interleukin 2 (IL2). RESULTS: Thirty patients were enrolled. The overall response rate was 14% (22% in the subset of patients treated with both chemotherapy and immunotherapy) with a median progression-free survival time of 4.1 + months. Toxicity was not mild, mostly fatigue, nausea and anaemia, even though not life threatening. CONCLUSION: Gemcitabine at the fixed infusion rate of 10 mg/m2/min with concomitant low doses of IL2 could be useful in the palliative treatment of symptomatic patients with renal carcinoma progressing after tyrosine kinases inhibitor.

Late recurrence of clinical stage I seminoma of the testis after 12 years despite adjuvant infradiaphragmatic irradiation.

A patient treated with prophylactic infradiaphragmatic radiation therapy for clinical stage I left testicular pure seminoma developed a large mass of the chest wall 12 years after primary treatment. An incisional biopsy confirmed pure seminoma. After chemotherapy, surgical removal of the residual mass and second-line chemoradiation therapy for persistent seminoma, the patient had a vertebral relapse. He died of progression 24 months after the first relapse despite further therapy.

Tumor-size breakpoint for prognostic stratification of localized renal cell carcinoma.

OBJECTIVES: To identify an optimal tumor-size breakpoint to distinguish between two groups with different prognoses in a large cohort of patients with localized renal cell carcinoma (RCC). METHODS: We reviewed the clinical records of 813 patients who had undergone surgical treatment for localized RCC from 1976 to 2000. The optimal breakpoint for the pathologic size was calculated by receiver operating characteristic curve analysis. RESULTS: The receiver operating characteristic curve analysis identified 5.5 cm as the optimal breakpoint to predict cancer-specific survival rates. The pathologic size was 5.5 cm or less in 565 neoplasms (69.5%) and more than 5.5 cm in 248 (30.5%). In the multivariate analysis, the more predictive model included the 5.5-cm-or-less pathologic size breakpoint. The pathologic size of 7 cm or less was not an independent variable in this cohort of patients. CONCLUSIONS: In a large cohort of patients with localized RCC, 5.5 cm was the optimal breakpoint to classify patients with localized RCC into two subgroups with different prognoses; the 7-cm-or-less cutoff value was not an independent variable. The data obtained by analyzing a large cohort of consecutive patients should be validated by other large series with the prospective of redefining the TNM staging system.

Incidental detection beyond pathological factors as prognostic predictor of renal cell carcinoma.

PURPOSE: To evaluate the prognostic significance of different detection modalities of renal cell carcinoma (RCC) in a large cohort of patients who had been previously submitted to surgery in two teaching hospitals in Italy. MATERIALS AND METHODS: We reviewed the clinical records of 1446 patients who had been submitted to surgical treatment for RCC at the Departments of Urology of Padua (n=747) and Verona (n=699) from 1976 to 2000. Patients were classified into two groups according to the detection mode: symptomatic and incidental. The cancer-specific survival probability was estimated according to the Kaplan-Meier method. In order to compare the survival curves the log rank test was used. The predictive independent value of the variables was examined using the Cox proportional hazards model. RESULTS: Six hundred and thirty patients (43.6%) were treated for incidental RCC and 816 (56.4%) for symptomatic RCC. In the incidental group, the size (p<0.001), the pathological stage (p<0.001) and the nuclear grading (p<0.001) of tumors were lower than those causing symptoms. The 5-year and 10-year cancer-specific survival probability were 84% and 75% in the incidental group, and 66% and 54.5% in the symptomatic group (p<0.0001), respectively. At a multivariate analysis, the mode of detection was an independent predictive variable (H.R. 1.559), as well as pathological stage (H.R. 1.809), nuclear grading (H.R. 1.411), size