학술논문
PTEN Hamartoma Tumor Syndrome: A Case of Renal Cell Carcinoma in a Young Female.
Document Type
Case Study
Author
Source
Subject
*RENAL cell carcinoma
*TUMOR suppressor genes
*VON Hippel-Lindau disease
*HAMARTOMA
*SYNDROMES
*TUMORS
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Language
ISSN
0090-4295
Abstract
PTEN Hamartoma-Tumor-Syndrome (PHTS) describes a series of conditions characterized by germline-mutation of the PTEN tumor-suppressor gene. PHTS patients have an increased lifetime risk of multiple malignancies, including thyroid, breast, and endometrial cancers. PHTS patients also have 20-30 fold increased risk of renal cell carcinoma (RCC) compared to age-matched controls. As with many hereditary RCC syndromes, tumors present early and multifocally. We present a case of one of the youngest patients diagnosed with RCC in PHTS and review the urologic implications of this syndrome. [ABSTRACT FROM AUTHOR]