Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.

ABSTRACT:

Purpose

Cowden syndrome is a hereditary cancer syndrome associated with a germline mutation in PTEN. Patients are predisposed to multiple malignancies including renal cell carcinoma.

Materials and methods

Patients with Cowden syndrome were evaluated as part of a clinical protocol. Those with a history of renal cell carcinoma underwent review of clinical features, tumor characteristics and family history. Renal tumors were evaluated for loss of heterozygosity.

Results

Among 24 patients with Cowden syndrome 4 were identified with renal cell carcinoma (16.7%). Three patients had solitary tumors, 2 with papillary type I histology and 1 with clear cell histology. The fourth patient had bilateral, synchronous chromophobe tumors. No patients had a prior family history of ren

SUBMITTER: Shuch B 

PROVIDER: S-EPMC4193347 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature