Paraganglioma of the urinary bladder

Liu, Cheng; Leibovich, Bradley C.; Cheville, John C.; Ramnani, Dharamdas M.; Sebo, Thomas J.; Neumann, M R N Roxann; Nascimento, Antonio G.; Zincke, Horst; Bostwick, David G.

doi:10.1002/(sici)1097-0142(20000215)88:4<844::aid-cncr15>3.0.co;2-i

Cited by 109 publications

(14 citation statements)

References 56 publications

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“…Hypertension is one of the most common symptoms, previously reported in 54.7% of patients with UBPGL [11]. Painless hematuria has also been reported frequently, in an estimated 33% to 60% of cases [11,21–23]. In our study, 70.4% were hypertensive on diagnosis, but only 25.9% had documented hematuria.…”

Section: Discussionsupporting

confidence: 47%

Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes

Martucci

Lorenzo

Weintraub

et al. 2015

Urologic Oncology: Seminars and Original Investigations

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Objective Our primary goal was to examine the clinical characteristics of a series of patients with urinary bladder paragangliomas (UBPGLs), focusing particularly on their genetic backgrounds. Materials and methods We analyzed the medical records of patients who presented to the National Institutes of Health with UBPGL from 2000 to 2013 to determine their clinical characteristics and outcomes, biochemical phenotype, tumor size, and genetic background. Results Of the 27 patients with UBPGLs who were identified, 17 (63%) had underlying genetic mutations. Overall, 14 (51.9%) patients had a germline mutation in the succinate dehydrogenase subunit B gene (SDHB), and 3 (11.1%) had in the von Hippel-Lindau gene (VHL). Of the 21 patients who had biochemical data available before their first operation, 19 (90.5%) presented with a noradrenergic biochemical phenotype; 7 (33.3%) patients had tumors that also secreted dopamine. In addition, 1 patient (4.8%) had elevated metanephrine levels, and 2 (9.5%) had normal biochemical data. In total, 13 (48.1%) patients in the series were diagnosed with metastatic disease, at either first presentation or follow-up; 6 of these patients (46.1%) had SDHB mutations. Conclusions UBPGLs typically present with a noradrenergic phenotype and are frequently associated with underlying germline mutations. Patients presenting with these rare neuroendocrine tumors should be screened for these mutations. In addition, patients with UBPGLs should be followed up closely for metastatic development regardless of genetic background, as almost half of the patients in this series presented with metastatic disease and less than half of them had SDHB mutations.

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Section: Discussionsupporting

confidence: 47%

Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes

Martucci

Lorenzo

Weintraub

et al. 2015

Urologic Oncology: Seminars and Original Investigations

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“…Oesterling et al 1 speculated that neuroendocrine stem (Kultschitzky type) cells with neurosecretory granules may exist within the urothelium that could give rise to neuroendocrine tumors, such as small-cell carcinoma. They also suggested that small-cell carcinoma of the bladder may derive from a poorly defined submucosal cell of neural crest origin, the same cells from which pheochromocytomas/paragangliomas 40 and neurofibromas 41 arise in the urinary bladder. Cramer et al 14 suggested that small-cell carcinomas in the bladder arise from a cell that is present in the urothelium as a result of metaplasia.…”

Section: Discussionmentioning

confidence: 99%

Molecular Genetic Evidence for a Common Clonal Origin of Urinary Bladder Small Cell Carcinoma and Coexisting Urothelial Carcinoma

Liu

Jones

McCarthy

et al. 2005

The American Journal of Pathology

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172

105

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In most cases, small-cell carcinoma of the urinary bladder is admixed with other histological types of bladder carcinoma. To understand the pathogenetic relationship between the two tumor types, we analyzed histologically distinct tumor cell populations from the same patient for loss of heterozygosity (LOH) and X chromosome inactivation (in female patients). We examined five polymorphic microsatellite markers located on chromosome 3p25-26 (D3S3050), chromosome 9p21 (IFNA and D9S171), chromosome 9q32-33 (D9S177), and chromosome 17p13 (TP53) in 20 patients with small-cell carcinoma of the urinary bladder and concurrent urothelial carcinoma. DNA samples were prepared from formalin-fixed, paraffin-embedded tissue sections using laser-assisted microdissection. A nearly identical pattern of allelic loss was observed in the two tumor types in all cases, with an overall frequency of allelic loss of 90% (18 of 20 cases). Three patients showed different allelic loss patterns in the two tumor types at a single locus; however, the LOH patterns at the remaining loci were identical. Similarly, the same pattern of nonrandom X chromosome inactivation was present in both carcinoma components in the four cases analyzed. Concordant genetic alterations and X chromosome inactivation between small-cell carcinoma and coexisting urothelial carcinoma suggest that both tumor compo- Small-cell carcinoma of the urinary bladder histologically resembles that occurring in the lung and has been reported with an increasing frequency in recent years. [1][2][3][4][5][6][7][8][9][10] It has been estimated to represent 0.5% of bladder malignancies and develops more frequently in older men, with hematuria as the most common presenting symptom. 8 Small-cell carcinoma of the urinary bladder behaves aggressively, often with locally advanced or metastatic disease at the time of presentation. 11 Over the years, three principal theories have been proposed to account for the development of small-cell carcinoma in the urinary bladder. The first theory is that small-cell carcinomas originate from multipotential, undifferentiated cells or stem cells in the urothelium. 5,8,12,13 The frequent association of this tumor with coexisting urothelial carcinoma supports this theory. The second theory is that these tumors arise from neuroendocrine cells within normal or metaplastic urothelium. 14 The third theory is that small-cell carcinomas are derived from an undefined population of submucosal neuroendocrine cells. 1 In this study, we investigated the clonal relationships between small-cell carcinoma and coexisting urothelial carcinoma using loss of heterozygosity (LOH) and X chromosome inactivation analysis. Materials and Methods PatientsTwenty patients with small-cell carcinoma of the urinary bladder and concurrent urothelial carcinoma were included in our study. Archival materials from the 20 cases

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“…Paragangliomas have a higher rate of malignancy and have been traditionally resected in an open operation, especially tumors with size greater than 8–10 cm and evidence of local invasion or recurrence[11]. In our previous study, tumor resection was performed via open operation in all 152 selected patients[12].…”

Section: Discussionmentioning

confidence: 99%

“…For functional paragangliomas, preoperative pharmacologic therapy is necessary before surgical intervention. Adequate preoperative α-blockade and intravascular volume expansion is essential to decrease the complications of intraoperative hemodynamic effects caused by excess catecholamines[11]–[13]. For some malignant paragangliomas, especially those in which surgical extirpation is impossible, chemotherapy and radiotherapy can be used as therapeutic options.…”

Section: Discussionmentioning

confidence: 99%

Urinary bladder malignant paraganglioma with vertebral metastasis: a case report with literature review

Feng¹,

Li²,

Gao³

et al. 2013

Chin J Cancer

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Paraganglioma is a rare neuroendocrine neoplasm observed in patients of all ages, with an estimated incidence of 3/1,000,000 population. It has long been recognized that some cases are familial. The majority of these tumors are benign, and the only absolute criterion for malignancy is the presence of metastases at sites where chromaffin tissue is not usually found. Some tumors show gross local invasion and recurrence, which may indeed kill the patient, but this does not necessarily associate with metastatic potential. Here, we report a case of vertebral metastatic paraganglioma that occurred 19 months after the patient had undergone partial cystectomy for urinary bladder paraganglioma. We believe this to be a rarely reported bone metastasis of paraganglioma arising originally within the urinary bladder. In this report, we also provide a summary of the general characteristics of this disease, together with progress in diagnosis, treatment, and prognosis.

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Paraganglioma of the urinary bladder

Cited by 109 publications

References 56 publications

Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes

Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes

Molecular Genetic Evidence for a Common Clonal Origin of Urinary Bladder Small Cell Carcinoma and Coexisting Urothelial Carcinoma

Urinary bladder malignant paraganglioma with vertebral metastasis: a case report with literature review

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