دورية أكاديمية
Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives
| العنوان: | Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives |
|---|---|
| المؤلفون: | Tavares, Catarina, Quental, Maria Sofia, Brandão, José Ricardo, Silva-Ramos, Miguel |
| المصدر: | Journal of Kidney Cancer and VHL; Vol. 9 No. 2 (2022): Journal of Kidney Cancer and VHL; 27-31 ; 2203-5826 |
| بيانات النشر: | Codon Publications |
| سنة النشر: | 2022 |
| المجموعة: | Journal of Kidney Cancer and VHL (JKCVHL) |
| مصطلحات موضوعية: | fumarate hydratase, hereditary renal cell cancer, HLRCC, renal cell carcinoma |
| الوصف: | In 2001, Finish investigators described a rare familiar syndrome characterized by an inherited susceptibility to cutaneous leiomyomas, uterine leiomyomas, and renal cell carcinoma (RCC). Hereditary leiomyomatosis and renal cell cancer (HLRCC) is now linked to a germline mutation in the fumarate hydratase (FH) gene that encodes a Krebs cycle enzyme, transforming fumarate to malate. The accumulation of fumarate, an oncometabolite, promotes tumorigenesis. We present a case of a 41-year-old female diagnosed with HLRCC after a radical nephrectomy due to renal cell cancer. Genetic analyses confirmed a novel FH mutation. Close follow-up allowed for a precocious diagnosis of a metachronous renal tumor and later a hepatic metastasis. Her family was also counseled and offered genetic testing. As observed in this case, the diagnosis of HLRCC is of paramount importance for patients and their families: there is a 15% cumulative lifetime risk of developing RCC, which frequently occurs in young patients and metastasizes at an early stage. Implementing a regular follow-up with adequate imaging examinations may help save lives. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf; text/html; text/xml |
| اللغة: | English |
| العلاقة: | https://jkcvhl.com/index.php/jkcvhl/article/view/222/412Test; https://jkcvhl.com/index.php/jkcvhl/article/view/222/414Test; https://jkcvhl.com/index.php/jkcvhl/article/view/222/413Test; https://jkcvhl.com/index.php/jkcvhl/article/view/222Test |
| DOI: | 10.15586/jkcvhl.v9i2.222 |
| الإتاحة: | https://doi.org/10.15586/jkcvhl.v9i2.222Test https://jkcvhl.com/index.php/jkcvhl/article/view/222Test |
| حقوق: | Copyright (c) 2022 Catarina Machado, Maria Sofia Quental, José Ricardo Brandão, Miguel Silva-Ramos ; https://creativecommons.org/licenses/by-nc-nd/4.0Test |
| رقم الانضمام: | edsbas.154348C1 |
| قاعدة البيانات: | BASE |
| DOI: | 10.15586/jkcvhl.v9i2.222 |
|---|