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A Novel Case of Hereditary Leiomyomatosis- Associated Renal Cell Carcinoma with Metastasis to Pituitary Gland by Catalina A. Palma; Geoffrey Watson; Peter Earls; Nitya Patanjali; Jerome Laurence; Scott Leslie is a Medicine article available to read on EtoBox.

What is A Novel Case of Hereditary Leiomyomatosis- Associated Renal Cell Carcinoma with Metastasis to Pituitary Gland about?

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disorder characterised by a germline mutation of the fumarate hydratase (FH) gene, in which affected individuals have a high likelihood of developing cutaneous leiomyomas, uterine leiomyomas and renal cell cancer (RCC). HLRCC-associated RCC is characterised by presentation at a younger age than the sporadic form, its aggressive nature and rapid metastatic potential. We present the case of a 50 year old woman with FH mutation, a history of early onset symptomatic uterine leiomyomas, and RCC with the first reported case of an isolated metastasis to the pituitary gland.

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Author

Catalina A. Palma; Geoffrey Watson; Peter Earls; Nitya Patanjali; Jerome Laurence; Scott Leslie

Publisher

Elsevier BV

Published

2022

Language

EN

Field

Medicine (Health Sciences)