Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer After Subcapsular Renal Hematoma
ABSTRACT Introduction Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant genetic disorder. We report a case diagnosed with HLRCC following a subcapsular renal hematoma caused by a tumor. Case Presentation A 28‐year‐old woman with a history of uterine myomas presente...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-05-01
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| Series: | IJU Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/iju5.70009 |
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| Summary: | ABSTRACT Introduction Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant genetic disorder. We report a case diagnosed with HLRCC following a subcapsular renal hematoma caused by a tumor. Case Presentation A 28‐year‐old woman with a history of uterine myomas presented with left back pain. Computed tomography revealed a renal mass with a subcapsular hematoma, and coil embolization was performed. The tumor had enlarged rapidly, and 18F‐fluorodeoxyglucose positron emission tomography/computed tomography revealed significant 18F‐fluorodeoxyglucose uptake, suggesting malignancy. Subsequently, robot‐assisted radical nephrectomy was performed. Histopathological examination confirmed papillary renal carcinoma (Stage pT2aN0M0). Fumarate hydratase immunostaining was negative, and a fumarate hydratase gene pathogenic germline variant confirmed the HLRCC diagnosis. No recurrence has been reported for 2 years since the surgery. Conclusion A combination of imaging tests using multiple modalities and close follow‐ups contributed to establishing an accurate diagnosis and providing early definitive treatment. |
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| ISSN: | 2577-171X |