A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland
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-...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-11-01
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| Series: | Urology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214442022002182 |
| _version_ | 1811207852971261952 |
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| author | Catalina A. Palma Geoffrey Watson Peter Earls Nitya Patanjali Jerome Laurence Scott Leslie |
| author_facet | Catalina A. Palma Geoffrey Watson Peter Earls Nitya Patanjali Jerome Laurence Scott Leslie |
| author_sort | Catalina A. Palma |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T04:10:46Z |
| format | Article |
| id | doaj.art-442d77c1fe924025909bd4a024b090c3 |
| institution | Directory Open Access Journal |
| issn | 2214-4420 |
| language | English |
| last_indexed | 2024-04-12T04:10:46Z |
| publishDate | 2022-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Urology Case Reports |
| spelling | doaj.art-442d77c1fe924025909bd4a024b090c32022-12-22T03:48:30ZengElsevierUrology Case Reports2214-44202022-11-0145102206A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary glandCatalina A. Palma0Geoffrey Watson1Peter Earls2Nitya Patanjali3Jerome Laurence4Scott Leslie5Department of Urology, Royal Prince Alfred Hospital, Sydney, Australia; Corresponding author.Department of Anatomical Pathology, Royal Prince Alfred Hospital, Sydney, AustraliaAnatomical Pathology, St Vincent's Hospital, Sydney, AustraliaRadiation Oncology, Chris O'Brien Lifehouse, Sydney, AustraliaTransplant Unit, Royal Prince Alfred Hospital, Sydney, Australia; Faculty of Medicine, University of Sydney, Sydney, Australia; RPA Institute of Academic Surgery, Sydney, AustraliaDepartment of Urology, Royal Prince Alfred Hospital, Sydney, Australia; Faculty of Medicine, University of Sydney, Sydney, Australia; RPA Institute of Academic Surgery, Sydney, AustraliaHereditary 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.http://www.sciencedirect.com/science/article/pii/S2214442022002182Hereditary leiomyomatosis and renal cell cancerPituitary glandMetastasis |
| spellingShingle | Catalina A. Palma Geoffrey Watson Peter Earls Nitya Patanjali Jerome Laurence Scott Leslie A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland Urology Case Reports Hereditary leiomyomatosis and renal cell cancer Pituitary gland Metastasis |
| title | A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland |
| title_full | A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland |
| title_fullStr | A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland |
| title_full_unstemmed | A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland |
| title_short | A novel case of hereditary leiomyomatosis- associated renal cell carcinoma with metastasis to pituitary gland |
| title_sort | novel case of hereditary leiomyomatosis associated renal cell carcinoma with metastasis to pituitary gland |
| topic | Hereditary leiomyomatosis and renal cell cancer Pituitary gland Metastasis |
| url | http://www.sciencedirect.com/science/article/pii/S2214442022002182 |
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