Other syndromes

Kidney cancer. Principles and practice. Second edition. Primo N. Lara, Jr. Eric Jonasch (Editors). Springer International Publishing (2015)


There are a handful of lesser-known heritable syndromes with renal neoplasms still worthy of mention. First and foremost, Cohen and colleagues reported a family with hereditary kidney cancer similar to VHL notable for a balanced translocation of chromosome 3. The affected did not possess the classical extrarenal manifestations of VHL and tended to develop RCC later in life. In the ensuring decades, further population studies were conducted, namely, one involving the Danish cytogenetic and cancer registry [66]. This phenomenon is believed explained by a three-hit model of carcinogenesis: first an individual is born with an abnormal karyotype involving translocation of 3p, second there is a loss of the 3p fusion chromosome, and finally the remaining VHL allele undergoes a somatic mutation [67, 68].

Oncocytomas are the most commonly resected benign tumors of the kidney. While oncocytomas lack the invasive potential RCC, they can nevertheless cause symptoms secondary to mass effect. Approximately 10% of oncocytomas are bilateral [69–71], and patients with bilateral lesions should be screened for BHD. In the cases of bilateral oncocytoma with negative screening for BHD, a diagnosis of bilateral multifocal oncocytomas is rendered. By the same token, a familial form of bilateral and multifocal oncocytomas has been coined familial renal oncocytoma (FRO) [72]. Patients with this condition should be observed closely, and prior to additional intervention, there should be consideration of renal biopsy. Lastly, there exists a variant form termed renal oncocytosis, where diffuse oncocytic nodules arise in the renal parenchyma, and many patients progress to renal failure [73]. The goal of management for these patients is centered on the maintenance of renal function through conservative measures.


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