Hereditary Renal Cancers

Abstract

Hereditary renal cancer syndromes can lead to multiple bilateral kidney tumors that occur at a younger age than do nonhereditary renal cancers. Imaging plays an important role in the diagnosis and management of these syndromes. During the past decade, several new hereditary renal syndromes have been discovered but are not yet widely known. Whereas previously, the list of hereditary renal cancers in adults included von Hippel-Lindau disease and a rare form of chromosomal translocation, the list now includes the following syndromes: tuberous sclerosis, hereditary papillary renal cancer, Birt-Hogg-Dubé syndrome, hereditary leiomyoma renal cell carcinoma, familial renal oncocytoma, hereditary nonpolyposis colon cancer, and medullary carcinoma of the kidney. In addition, a number of newly described but poorly understood syndromes are under investigation. Even at this early stage, it is clear that elucidation of the underlying genetic mutations that cause hereditary renal cancer syndromes will have profound implications for understanding the origins of nonhereditary renal tumors. These studies will likely culminate in a better understanding of the causes of renal cancer, its prevention, and, ultimately, its cure.

Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects

“…Renal tumors associated with BHDS are diagnosed at the age ranging from 20 to 75 years, but often occur before 50 years of age [3,5,[15][16][17]. Renal tumors occur in 25-35% of patients with BHDS [14,18].…”

“…Ultrasound sonography or computed tomography scan of the kidney usually shows unilateral and bilateral solid lesions [3,[25][26][27]. Preoperative imaging disclosed 5.3 tumors per BHDS patients on average [18,28].…”

“…The disease has been named as Hornstein-Knickenberg syndrome. Nowadays, some investigators consider that these two syndromes are the same entity [3][4][5][6]. Accordingly, Happle proposes that this syndrome should be renamed as Hornstein-Birt-Hogg-Dubé syndrome [6].…”

Renal Tumors in Patients with von Hippel-Lindau Disease: "State of Art Review"

“…A tumor suppressor gene requires loss of function or inactivation of one or both of the genes, often by mutation of 1 allele combined with deletion, or loss, of the second allele, whereas, an oncogene is activated by 1 change in the gene. In the initial studies, loss of segments at chromosome 3 in tumor tissue suggested that a cancer gene for kidney cancer was present at this location 16 . Dr Knudson's "two hit" theory postulates that most tumor suppressor genes encode proteins responsible for the negative regulation of cellular growth.…”

“…Published online 16 Surgical and medical oncologists have been unable to decrease renal cell carcinoma mortality for uncertain reasons, although a lot of progress has been made in diagnosis and imaging, recognition of different genetic and pathological entities, management of localized disease and in the research on new drug treatments for advanced stages of the disease, potentially combined with surgery. The purpose of this book, which tackles a number of separate interesting topics, is to provide further insight into the disease and the management of early and advanced renal cell carcinoma.…”