Postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome: Identification through normal kidney tissues after surgical removal
Introduction Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant disorder caused by germline mutations in the FH gene and is associated with poor prognosis of aggressive renal cancer. Case presentation A 33‐year‐old man presented with asymptomatic gross hematuria and was diagnos...
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| Format: | Article |
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Wiley
2025-03-01
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| Series: | IJU Case Reports |
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| Online Access: | https://doi.org/10.1002/iju5.12820 |
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| author | Shodai Suzuki Yoshiyuki Yamamoto Taigo Kato Koji Hatano Takahiro Matsui Kae Hashimoto Takako Miyamura Yoji Nagashima Norio Nonomura Atsunari Kawashima |
| author_facet | Shodai Suzuki Yoshiyuki Yamamoto Taigo Kato Koji Hatano Takahiro Matsui Kae Hashimoto Takako Miyamura Yoji Nagashima Norio Nonomura Atsunari Kawashima |
| author_sort | Shodai Suzuki |
| collection | DOAJ |
| description | Introduction Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant disorder caused by germline mutations in the FH gene and is associated with poor prognosis of aggressive renal cancer. Case presentation A 33‐year‐old man presented with asymptomatic gross hematuria and was diagnosed with a right renal tumor, cT3aN1M0. He underwent open radical nephrectomy, and pathological examination revealed papillary renal cell carcinoma. Despite aggressive treatment, the disease progressed rapidly, and discussions regarding genetic testing could not take place during his lifetime, although circulating‐tumor DNA showed mutation of FH gene. After death, his wife requested postmortem genetic testing. Genetic analysis using DNA extracted from normal kidney tissues in surgical specimens (blood sample absence) confirmed the FH mutation, and hereditary leiomyomatosis and renal cell cancer was diagnosed posthumously. Conclusion This highlights the utility of postmortem genetic testing of surgical specimens to diagnose hereditary leiomyomatosis and renal cell cancer and provide genetic counseling to families, despite limitations during the patient's life. |
| format | Article |
| id | doaj-art-d8c3a06d9cfe4fe1ac750f5ff945d0ca |
| institution | OA Journals |
| issn | 2577-171X |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | IJU Case Reports |
| spelling | doaj-art-d8c3a06d9cfe4fe1ac750f5ff945d0ca2025-08-20T02:00:55ZengWileyIJU Case Reports2577-171X2025-03-018210911310.1002/iju5.12820Postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome: Identification through normal kidney tissues after surgical removalShodai Suzuki0Yoshiyuki Yamamoto1Taigo Kato2Koji Hatano3Takahiro Matsui4Kae Hashimoto5Takako Miyamura6Yoji Nagashima7Norio Nonomura8Atsunari Kawashima9Department of Urology Osaka University Graduate School of Medicine Suita Osaka JapanDepartment of Urology Osaka University Graduate School of Medicine Suita Osaka JapanDepartment of Urology Osaka University Graduate School of Medicine Suita Osaka JapanDepartment of Urology Osaka University Graduate School of Medicine Suita Osaka JapanDepartment of Pathology Osaka University Graduate School of Medicine Suita Osaka JapanDepartment of Genetic Counseling Osaka University Graduate School of Medicine Suita Osaka JapanDepartment of Pediatrics Osaka University Graduate School of Medicine Suita Osaka JapanDepartment of Surgical Pathology Tokyo Women's Medical University Hospital Tokyo JapanDepartment of Urology Osaka University Graduate School of Medicine Suita Osaka JapanDepartment of Urology Osaka University Graduate School of Medicine Suita Osaka JapanIntroduction Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant disorder caused by germline mutations in the FH gene and is associated with poor prognosis of aggressive renal cancer. Case presentation A 33‐year‐old man presented with asymptomatic gross hematuria and was diagnosed with a right renal tumor, cT3aN1M0. He underwent open radical nephrectomy, and pathological examination revealed papillary renal cell carcinoma. Despite aggressive treatment, the disease progressed rapidly, and discussions regarding genetic testing could not take place during his lifetime, although circulating‐tumor DNA showed mutation of FH gene. After death, his wife requested postmortem genetic testing. Genetic analysis using DNA extracted from normal kidney tissues in surgical specimens (blood sample absence) confirmed the FH mutation, and hereditary leiomyomatosis and renal cell cancer was diagnosed posthumously. Conclusion This highlights the utility of postmortem genetic testing of surgical specimens to diagnose hereditary leiomyomatosis and renal cell cancer and provide genetic counseling to families, despite limitations during the patient's life.https://doi.org/10.1002/iju5.12820cabozantinibcomprehensive genome profilingFHhereditary leiomyomatosis and renal cell cancerrenal cell carcinoma |
| spellingShingle | Shodai Suzuki Yoshiyuki Yamamoto Taigo Kato Koji Hatano Takahiro Matsui Kae Hashimoto Takako Miyamura Yoji Nagashima Norio Nonomura Atsunari Kawashima Postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome: Identification through normal kidney tissues after surgical removal IJU Case Reports cabozantinib comprehensive genome profiling FH hereditary leiomyomatosis and renal cell cancer renal cell carcinoma |
| title | Postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome: Identification through normal kidney tissues after surgical removal |
| title_full | Postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome: Identification through normal kidney tissues after surgical removal |
| title_fullStr | Postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome: Identification through normal kidney tissues after surgical removal |
| title_full_unstemmed | Postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome: Identification through normal kidney tissues after surgical removal |
| title_short | Postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome: Identification through normal kidney tissues after surgical removal |
| title_sort | postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome identification through normal kidney tissues after surgical removal |
| topic | cabozantinib comprehensive genome profiling FH hereditary leiomyomatosis and renal cell cancer renal cell carcinoma |
| url | https://doi.org/10.1002/iju5.12820 |
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