Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?
The hereditary leiomyomatosis and renal cell cancer (HLRCC) association is a rare syndrome caused by mutation of the Kreb’s cycle enzyme, fumarate hydratase (FH). It is characterized by unusually aggressive type 2 papillary renal cell histology. FH is responsible for catalyzing the conversion of fum...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Urology |
| Online Access: | http://dx.doi.org/10.1155/2015/303872 |
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| author | Benjamin T. Ristau Sonal N. Kamat Tatum V. Tarin |
| author_facet | Benjamin T. Ristau Sonal N. Kamat Tatum V. Tarin |
| author_sort | Benjamin T. Ristau |
| collection | DOAJ |
| description | The hereditary leiomyomatosis and renal cell cancer (HLRCC) association is a rare syndrome caused by mutation of the Kreb’s cycle enzyme, fumarate hydratase (FH). It is characterized by unusually aggressive type 2 papillary renal cell histology. FH is responsible for catalyzing the conversion of fumarate to malate. Its absence leads to a state of “pseudohypoxia,” inducing hypoxia inducible factor 1α (HIF-1α) and leading to increased growth factor transcription (e.g., vascular endothelial growth factor, VEGF; glucose transporter 1, GLUT1). Ultimately, this results in tumorigenesis. We present a patient who was diagnosed with HLRCC and underwent bilateral nephrectomies. One of the nephrectomy specimens was notable for benign cystic lesions that stained positive immunohistochemically for succinated proteins, a finding only noted in FH-deficient cells. Thus, we posit a potential precursor lesion to type 2 papillary renal cell carcinoma in the HLRCC syndrome. |
| format | Article |
| id | doaj-art-7593c47d6edd4e29a9c4256a3cfea03c |
| institution | Kabale University |
| issn | 2090-696X 2090-6978 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Urology |
| spelling | doaj-art-7593c47d6edd4e29a9c4256a3cfea03c2025-08-20T03:35:22ZengWileyCase Reports in Urology2090-696X2090-69782015-01-01201510.1155/2015/303872303872Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?Benjamin T. Ristau0Sonal N. Kamat1Tatum V. Tarin2Deparment of Urology, University of Pittsburgh Medical Center, Pittsburgh, PA 15219, USADepartment of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15219, USADeparment of Urology, University of Pittsburgh Medical Center, Pittsburgh, PA 15219, USAThe hereditary leiomyomatosis and renal cell cancer (HLRCC) association is a rare syndrome caused by mutation of the Kreb’s cycle enzyme, fumarate hydratase (FH). It is characterized by unusually aggressive type 2 papillary renal cell histology. FH is responsible for catalyzing the conversion of fumarate to malate. Its absence leads to a state of “pseudohypoxia,” inducing hypoxia inducible factor 1α (HIF-1α) and leading to increased growth factor transcription (e.g., vascular endothelial growth factor, VEGF; glucose transporter 1, GLUT1). Ultimately, this results in tumorigenesis. We present a patient who was diagnosed with HLRCC and underwent bilateral nephrectomies. One of the nephrectomy specimens was notable for benign cystic lesions that stained positive immunohistochemically for succinated proteins, a finding only noted in FH-deficient cells. Thus, we posit a potential precursor lesion to type 2 papillary renal cell carcinoma in the HLRCC syndrome.http://dx.doi.org/10.1155/2015/303872 |
| spellingShingle | Benjamin T. Ristau Sonal N. Kamat Tatum V. Tarin Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? Case Reports in Urology |
| title | Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? |
| title_full | Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? |
| title_fullStr | Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? |
| title_full_unstemmed | Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? |
| title_short | Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? |
| title_sort | abnormal cystic tumor in a patient with hereditary leiomyomatosis and renal cell cancer syndrome evidence of a precursor lesion |
| url | http://dx.doi.org/10.1155/2015/303872 |
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