PTEN Hamartoma Tumor Syndrome: A Case of Renal Cell Carcinoma in a Young Female.

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.

journal_name

Urology

journal_title

Urology

authors

Ramkumar RR,Murthy PB,Nguyen JK,McKenney J,Eng C,Campbell SC

doi

10.1016/j.urology.2020.11.024

subject

Has Abstract

pub_date

2020-11-21 00:00:00

eissn

0090-4295

issn

1527-9995

pii

S0090-4295(20)31401-1

pub_type

杂志文章

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