Abstract
Familial renal cancer (FRC) is a heterogeneous disorder comprised of a variety of subtypes. Each subtype is known to have unique histologic features, genetic alterations, and response to therapy. Through the study of families affected by hereditary forms of kidney cancer, insights into the genetic basis of this disease have been identified. This has resulted in the elucidation of a number of kidney cancer gene pathways. Study of these pathways has led to the development of novel targeted molecular treatments for patients affected by systemic disease. As a result, the treatments for families affected by von Hippel-Lindau (VHL), hereditary papillary renal carcinoma (HPRC), hereditary leiomyomatosis renal cell carcinoma (HLRCC), and Birt-Hogg-Dubé (BHD) are rapidly changing. We review the genetics and contemporary surgical management of familial forms of kidney cancer.
Highlights
Renal cell carcinoma (RCC) has a global impact with approximately 111,100 new cases and 43,000 deaths from the disease among men in developed countries in 2008 alone [1]
Hereditary papillary renal carcinoma (HPRC) is an inherited renal cancer syndrome in which affected individuals are at risk of developing multifocal bilateral type 1 papillary renal carcinoma
Changes in the MET gene involve ligandindependent activation of the intracytoplasmic tyrosine kinase domain leading to activation of the hepatocyte growth factor (HGF)/MET pathway resulting in tumor formation [55, 56]
Summary
Renal cell carcinoma (RCC) has a global impact with approximately 111,100 new cases and 43,000 deaths from the disease among men in developed countries in 2008 alone [1]. Familial renal cancer (FRC) is noted to exist when more than one member of a family presents with a single malignancy or collection of tumors [16]. A number of targeted molecular therapies have developed over the past half decade [19] This has altered the management of advanced and systemic RCC and provided additional approaches to cytokine-based therapies for the systemic therapy of clear cell tumors [20, 21]. Understanding the genetic abnormalities and the pathways leading to the tumorigenesis of FRC provided the opportunity for the development of novel forms of therapies targeting these cancer gene pathways (Table 1)
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