A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
| Autor: | Kapila V; Internal Medicine, Central Michigan University College of Medicine, Mt. Pleasant, USA., Kalra AG; Internal Medicine, Brooke Army Medical Center, San Antonio, USA., Stockman DL; Pathology, OrthoPath Labs, Kalamazoo, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2021 Feb 15; Vol. 13 (2), pp. e13344. Date of Electronic Publication: 2021 Feb 15. |
| DOI: | 10.7759/cureus.13344 |
| Abstrakt: | Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is believed to result from an autosomal dominant mutation in the fumarate hydratase (FH) gene on chromosome 1. It is characterized by leiomyomas, mainly uterine or cutaneous, and renal cell carcinoma (RCC). The most common type of RCC associated with HLRCC is type II papillary RCC although other types are seen. Of note, chromophobe RCC has not been described in previously documented cases of HLRCC. HLRCC is typically associated with germline mutations with occasional somatic mutations reported, however, to the best of our knowledge, none have yielded the full phenotype until now. Herein, we report a case of a 45-year-old woman who underwent a hysterectomy following a year of heavy vaginal bleeding, yielding a diagnosis of uterine leiomyomas. Eight months later, the patient presented with hematuria and was subsequently found to have a left renal mass. Following a left radical nephrectomy, histologic exam revealed a chromophobe RCC with FH deficiency. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2021, Kapila et al.) |
| Databáze: | MEDLINE |
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