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Genetics
Published in Karl H. Pang, Nadir I. Osman, James W.F. Catto, Christopher R. Chapple, Basic Urological Sciences, 2021
Examples:Von Hippel‒Lindau syndrome (chromosome 3p).Hereditary papillary renal cell carcinoma (7q).Hereditary leiomyomatosis and renal cell cancer (1q).Autosomal dominant polycystic kidney disease (16p, 4q).Tuberous sclerosis (9q, 16p).Birt‒Hogg‒Dubé syndrome (17p).Noonan syndrome (~50% associated with 12q).
Renal cancer
Published in Anju Sahdev, Sarah J. Vinnicombe, Husband & Reznek's Imaging in Oncology, 2020
Conrad von Stempel, Lee Alexander Grant, Miles Walkden, Navin Ramachandran
Papillary RCC is the second most common subtype after clear cell RCC, accounting for up to 20% of RCC. Both papillary and chromophobe RCC tend to present with lower grade tumours and to be less likely to metastasize after treatment compared with clear cell RCC (34). Calcification is also more common in papillary and chromophobe RCC (in approximately one-third of cases) compared with clear cell RCC (11% demonstrate calcification) (67). Papillary RCC is a heterogeneous group of tumours with two distinct genetic and clinical subtypes, with some patients presenting with fairly indolent multifocal lesions and others with solitary aggressive tumours. Type 1 tumours are associated with hereditary papillary renal cell cancer syndrome and are often multifocal and bilateral. Non-hereditary type 1 papillary tumours are associated with the same proto-oncogene somatic mutations (MET) as in hereditary papillary renal cell carcinoma syndrome (68). Type 2 tumours are more likely to be solitary heterogeneous lesions. A more aggressive phenotype of type 2 papillary RCC is seen in patients with hereditary leiomyomatosis and renal-cell cancer syndromes (69).
Basic Science and Molecular Oncology
Published in Manit Arya, Taimur T. Shah, Jas S. Kalsi, Herman S. Fernando, Iqbal S. Shergill, Asif Muneer, Hashim U. Ahmed, MCQs for the FRCS(Urol) and Postgraduate Urology Examinations, 2020
Paul Cleaveland, Vijay Sangar, Noel Clarke
Von Hippel-Lindau syndrome is an autosomal dominant condition associated with a spectrum of conditions including cerebellar and retinal haemangioblastomas, pancreatic cysts, renal cyst, phaeochromocytomas and renal cell carcinoma. Birt-Hogg-Dubé syndrome is an autosomal dominant condition associated with pulmonary cysts, fibrofolliculomas, oncocytomas, and chromophobe renal cell carcinoma. It is associated with a mutation in the FLCN tumour suppressor gene that codes for follicular on chromosome 17. Familial papillary renal cell carcinoma is an autosomal dominant condition associated with mutation in the c-MET gene on chromosome 7p31. It is associated with type 1 papillary renal cell carcinoma. Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition in which individuals are susceptible to developing cutaneous and uterine leiomyomas as well as type 2 papillary renal cell cancer. It is caused by gremlin mutations in the fumarate hydratase (FH) gene. Tuberous Sclerosis Complex is an autosomal dominant condition characterised by the formation of hamartomas in multiple organs leading to epilepsy, mental retardation and skin manifestations. There is an association with AMLs and renal cell carcinomas. Mutations in TSC1 encoding hamartin and TSC2 encoding tuberin are responsible for the phenotype.
An up-to-date evaluation of cabozantinib for the treatment of renal cell carcinoma
Published in Expert Opinion on Pharmacotherapy, 2021
Andrea Marchetti, Matteo Rosellini, Alessandro Rizzo, Veronica Mollica, Nicola Battelli, Francesco Massari, Matteo Santoni
Kidney cancer is the 7th and the 10th most common neoplasia in the worldwide male and female population, respectively, with an increasing incidence in the recent years [1]. According to the pathological classification by the International Society of Urological Pathology Vancouver Consensus Statement, despite many oncological diseases are included in the term renal cell carcinoma (RCC), two main settings may be outlined: clear cell RCC (ccRCC) and non-clear cell RCC (nccRCC) [2]. Clear cell RCC represent about 75–80% of all RCCs new cases per year, while nccRCC is diagnosed in the remaining 20–25% of cases. More than a dozen pathological entities are included within the latter group, each one characterized by specific genomic and pathogenetic signatures. Among these, papillary renal cell carcinoma (pRCC) and chromophobe renal cell carcinoma (chRCC) have the highest incidence [3]. Focusing on metastatic disease, both ccRCC and nccRCC are resistant to standard chemotherapy, resulting in poor patients’ prognosis and highlighting the need for different treatment strategies. Over the past 15 years, the medical treatment of metastatic RCC has radically changed, transiting from a non-specific immune approach with cytokines, to targeted therapy against vascular endothelial growth factor (VEGF), and, recently, to novel immunotherapy agents and immuno-combinations [4]. This therapeutic evolution is the result of a progressively increasing knowledge about renal oncogenesis and it has led to meaningful improvements in terms of patients’ clinical outcomes.
Contrast enhanced ultrasound characterization of surgically resected renal masses in patients on dialysis
Published in Scandinavian Journal of Urology, 2019
Amanda E. Kahn, Andrew K. Ostrowski, Melanie P. Caserta, Isabella J. Galler, David D. Thiel
Due to high blood flow to the kidneys, the kidneys demonstrate rapid and intense uptake of UCA. The typical contrast enhancement pattern of the kidneys shows enhancement of the arteries followed by rapid fill in of the cortex and gradual fill of the renal pyramids. Ultrasound has excellent sensitivity for detection of UCA and is more sensitive than CECT in detecting blood flow to hypovascular masses [3,4]. CEUS is an excellent modality for evaluating indeterminate renal masses identified on computed tomography (CT) and MRI and it excels at characterizing indeterminate lesions as cystic or solid. Assessment of cystic renal lesions is another frequent application of CEUS. CEUS characterization of complex cystic masses is more sensitive than CT in detecting enhancement of internal septa, cyst wall enhancement, and enhancing solid components within the cyst [3,5,6]. There is an overlap between the enhancement features of benign and malignant solid renal lesions with ultrasound; however, there are some features suggestive of malignancy. Clear cell renal cell carcinoma typically demonstrates heterogeneous avid early enhancement, a peripheral rim of enhancement, and early washout. Conversely, papillary renal cell carcinoma is typically hypoenhancing to the renal cortex on all phases [6].
Multi-disciplinary team conference clarifies bosniak classification of complex renal cysts
Published in Scandinavian Journal of Urology, 2021
Stine Frost Hedegaard, Sara Afghan Tolouee, Nessn H. Azawi
Thirty-one cysts of the 167 (18.6%) patients were either upgraded or downgraded at a MDT. Of those 26 cysts (15.6%) were up or downgraded at the first MDT (Table 1). Eight cysts were upgraded to solid tumors, of them six tumors were primary classified as Bosniak IIF cysts and the other two cysts were Bosniak III and IV cysts. Six of the patients with solid tumors had a renal surgery performed (partial or total nephrectomy), five of the resected cysts presented with histopathology of papillary renal cell carcinoma (papRCC) and one benign tumor. One patient chose active surveillance, without biopsy a biopsy of the tumor. The last cyst was interpret as an onchocytoma by ultra sound and patient follow up was terminated.