Transitional cell carcinoma of the renal pelvis associated with hypercalcemia in a patient with autosomal dominant polycystic kidney disease

Grubb, Robert L.; Collyer, William C.; Kibel, Adam S.

doi:10.1016/j.urology.2003.12.005

Cited by 7 publications

(5 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Interestingly, urothelial carcinoma of the renal pelvis accompanied by autosomal dominant polycystic kidney disease has been reported, but with an unclear molecular mechanism (49, 50). In our conditional Pten knock-out mice, renal pelvic urothelial carcinoma was commonly accompanied by polycystic renal dysplasia, mimicking the clinical manifestations of this human disease.…”

Section: Discussionmentioning

confidence: 99%

Activation of the PI3K/AKT Pathway Induces Urothelial Carcinoma of the Renal Pelvis: Identification in Human Tumors and Confirmation in Animal Models

et al. 2009

View full text Add to dashboard Cite

Urothelial carcinoma of the renal pelvis is a deadly disease with an unclear tumorigenic mechanism. We conducted gene expression profiling on a set of human tumors of this type and identified a phosphatidylinositol 3-kinase (PI3K)/AKT activation expression signature in 76.9% (n = 13) of our samples. Sequence analysis found both activating mutations of PIK3CA (13.6%, n = 22) and loss of heterozygosity at the PTEN locus (25%, n = 8). In contrast, none of the other subtypes of kidney neoplasms (e.g., clear-cell renal cell carcinoma) harbored PIK3CA mutations (n = 87; P < 0.001). Immunohistochemical analysis of urothelial carcinoma samples found loss of PTEN protein expression (36.4%, n = 11) and elevation of phosphorylated mammalian target of rapamycin (mTOR; 63.6%, n = 11). To confirm the role of the PI3K/AKT pathway in urothelial carcinoma, we generated mice containing biallelic inactivation of Pten in the urogenital epithelia. These mice developed typical renal pelvic urothelial carcinomas, with an incidence of 57.1% in mice older than 1 year. Laser capture microdissection followed by PCR confirmed the deletion of Pten exons 4 and 5 in the animal tumor cells. Immunohistochemical analyses showed increased phospho-mTOR and phospho-S6K levels in the animal tumors. Renal lymph node metastases were found in 15.8% of the animals with urothelial carcinoma. In conclusion, we identified and confirmed an important role for the PI3K/AKT pathway in the development of urothelial carcinoma and suggested that inhibitors of this pathway (e.g., mTOR inhibitor) may serve as effective therapeutic agents.

show abstract

Section: Discussionmentioning

confidence: 99%

Activation of the PI3K/AKT Pathway Induces Urothelial Carcinoma of the Renal Pelvis: Identification in Human Tumors and Confirmation in Animal Models

et al. 2009

View full text Add to dashboard Cite

show abstract

“…Thus, the etiologies for urothelial neoplasms in ADPKD might be associated with the common factors, such as prolonged exposure to urinary carcinogens caused by obstruction and chronic inflammation related to infection or nephrolithiasis. [9] …”

Section: Discussionmentioning

confidence: 99%

Case report of renal pelvis squamous cell carcinoma with tumor embolus in autosomal dominant polycystic kidney disease

Xie

Zhang²,

Wang³

et al. 2016

Medicine

View full text Add to dashboard Cite

Introduction:Autosomal dominant polycystic kidney disease (ADPKD) is a multisystem hereditary disease characterized by formation of cysts in the ductal organs. Renal pelvis malignancy in ADPKD is very rare and sporadically reported in the previous literature. Here, we report the first case of renal pelvis squamous cell carcinoma with tumor embolus in a 35-year-old ADPKD patient. The patient presented with 3 months of persistent backache and intermittent fever, and was initially diagnosed as intracystic hemorrhage with inferior vena cava thrombosis formation. As a result, he received anticoagulation therapy in a local hospital. However, his backache got worsened during the therapy, and he lost 10 kg of his body weight from the onset of illness. In our hospital, computed tomography demonstrated a heterogeneous right renal mass as well as emboli in the inferior vena cava and bilateral renal veins. Positron emission tomography computed tomography and biopsy were also performed, but the results were equivocal. Considering the patient's willingness and the potential malignancy, we performed thoracoabdominal nephrectomy and embolectomy, and histological examination made the diagnosis of renal pelvis squamous cell carcinoma. After adjuvant chemotherapy including paclitaxel and carboplatin, the patient obtained improved physical status and was disease free at the 6-month follow-up. Although rare, renal pelvis squamous cell carcinoma should be considered in the differential diagnosis of renal mass in ADPKD patients.Conclusion:Our case suggested surgery combined with adjuvant chemotherapy might be effective treatments in such a condition.

show abstract

“…To our knowledge, our report presents the first case of hypercalcemia with upper tract urothelial carcinoma with a documented elevated 1,25-dihydroxyvitamin D level. The cases with a suppressed PTH without an elevation of PTHrP [9, 16, 21, 22, 25] could have been from an elevated 1,25-dihydroxyvitamin D if it had been measured. Some other cases [3, 11, 26] might have proven an elevated 1,25-dihydroxyvitamin D, if the full workup was available.…”

Section: Discussionmentioning

confidence: 99%

Hypercalcemia in Upper Urinary Tract Urothelial Carcinoma: A Case Report and Literature Review

Asao

McHugh

Miller

et al. 2013

Case Reports in Endocrinology

View full text Add to dashboard Cite

Objective. We here report a patient with upper urinary tract urothelial carcinoma with hypercalcemia likely due to elevated 1,25-dihydroxyvitamin D. Methods. We present a clinical case and a summary of literature search. Results. A 57-year-old man, recently diagnosed with a left renal mass, for which a core biopsy showed renal cell carcinoma, was admitted for hypercalcemia of 11.0 mg/mL He also had five small right lung nodules with a negative bone scan. Both intact parathyroid hormone and parathyroid hormone-related peptide were appropriately low, and 1,25-dihydroxyvitamin D was elevated at 118 pg/dL. The patient's calcium was normalized after hydration, and he underwent radical nephrectomy. On the postoperative day 6, a repeat 1,25-dihydroxyvitamin D was 24 pg/mL with a calcium of 8.1 mg/dL. Pathology showed a 6 cm high-grade urothelial carcinoma with divergent differentiation. We identified a total of 27 previously reported cases with hypercalcemia and upper tract urothelial carcinoma in English. No cases have a documented elevated 1,25-dihydroxyvitamin D level. Conclusion. This clinical course suggests that hypercalcemia in this case is from the patient's tumor, which was likely producing 1,25-dihydroxyvitamin D. Considering the therapeutic implications, hypercalcemia in patients with upper urinary tract urothelial carcinoma should be evaluated with 1,25-dihydroxyvitamin D.

show abstract

Transitional cell carcinoma of the renal pelvis associated with hypercalcemia in a patient with autosomal dominant polycystic kidney disease

Cited by 7 publications

References 13 publications

Activation of the PI3K/AKT Pathway Induces Urothelial Carcinoma of the Renal Pelvis: Identification in Human Tumors and Confirmation in Animal Models

Activation of the PI3K/AKT Pathway Induces Urothelial Carcinoma of the Renal Pelvis: Identification in Human Tumors and Confirmation in Animal Models

Case report of renal pelvis squamous cell carcinoma with tumor embolus in autosomal dominant polycystic kidney disease

Hypercalcemia in Upper Urinary Tract Urothelial Carcinoma: A Case Report and Literature Review

Contact Info

Product

Resources

About