A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland

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

doi:10.1016/j.eucr.2022.102206

A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland

Urol Case Rep. 2022 Aug 30:45:102206. doi: 10.1016/j.eucr.2022.102206. eCollection 2022 Nov.

Authors

Catalina A Palma¹, Geoffrey Watson², Peter Earls³, Nitya Patanjali⁴, Jerome Laurence^{5

6

7}, Scott Leslie^{1

6

7}

Affiliations

¹ Department of Urology, Royal Prince Alfred Hospital, Sydney, Australia.
² Department of Anatomical Pathology, Royal Prince Alfred Hospital, Sydney, Australia.
³ Anatomical Pathology, St Vincent's Hospital, Sydney, Australia.
⁴ Radiation Oncology, Chris O'Brien Lifehouse, Sydney, Australia.
⁵ Transplant Unit, Royal Prince Alfred Hospital, Sydney, Australia.
⁶ Faculty of Medicine, University of Sydney, Sydney, Australia.
⁷ RPA Institute of Academic Surgery, Sydney, Australia.

Abstract

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.

Keywords: HLRCC, Hereditary Leiomyomatosis and renal cell cancer; Hereditary leiomyomatosis and renal cell cancer; IVC, Inferior vena cava; Metastasis; Pituitary gland; RCC, Renal cell carcinoma.

Publication types

Case Reports