Cowden’s disease

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


Cowden’s disease is an autosomal dominant disease thought to affect 1 in 200,000 persons, an estimate now questioned to be an underestimation [60]. The gene in question was localized to 10q22, also known as PTEN, which serves as a tumor suppressor [61, 62]. Cowden’s disease (CD) presents with a host of cutaneous and mucocutaneous lesions. The hallmarks of CD are the benign hair follicle tumors termed trichilemmomas [63]. CNS pathologies are also common, where the affected individuals manifest macrocephaly and cerebellar white matter disorganization (Lhermitte-Duclos disease). They also demonstrate symptoms of ataxia, tremors, and cognitive dysfunction. From an oncologic standpoint, CD patients tend to develop epithelial neoplasms, including malignancies of the breast, uterus, thyroid, colon, and prostate. With regard to renal neoplasms, individuals with CD demonstrate 4% incidence of developing RCC, which is approximately 30x the lifetime risk of normal individuals [64]. In a series of patients with CD, 16% had a history of kidney cancer involving all major histologic subtypes [65]. As such, patients with confirmed CD may benefit from early screening of kidney cancers.


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