Cowden’s syndrome

Renal Cancer. Contemporary Management. Springer New York (2013)

Cowden’s syndrome is an autosomal dominant hereditary cancer syndrome recently linked to the development of kidney cancer. The prevalence of Cowden’s syndrome is believed to be around 1:200,000 individuals; however, many experts believe this is an underestimation. The gene for Cowden’s was first localized to 10q22 by linkage analyses and later identified as the tumor suppressor gene PTEN.

Cowden’s is characterized by multiple cutaneous and mucocutaneous hamartomas. Trichilemmomas are benign hair follicle tumors considered a pathognomonic characteristic and were first recognized 50 years ago in the dermatologic literature. Benign characteristics include macrocephaly and central nervous system hamartomas, called Lhermitte-Duclos disease. The neurologic manifestations can include ataxia, tremor, and mental retardation. Epithelial neoplasms are a hallmark of Cowden’s syndrome with breast, uterine, thyroid, colon, and prostate cancers the most frequent malignancies. Recently a large cohort of Cowden’s patients was analyzed, and there was a 4% incidence of papillary and chromophobe renal neoplasms. This represented nearly a 30-fold increase in the risk of developing kidney cancer. There is an estimated 34% lifetime risk of developing kidney cancer and therefore screening for kidney cancer is suggested.

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