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Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?

Ristau BT, Kamat SN, Tarin TV - Case Rep Urol (2015)

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Deparment of Urology, University of Pittsburgh Medical Center, Pittsburgh, PA 15219, USA.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

(a) H&E stained slide of a cystic component of the right confirmed papillary type 2 renal cell carcinoma. (b) 2SC stained slide of the right confirmed papillary type 2 renal cell carcinoma. (c) H&E slide of the left benign cystic renal lesion. (d) 2SC stained slide of left benign cystic renal lesion.
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fig3: (a) H&E stained slide of a cystic component of the right confirmed papillary type 2 renal cell carcinoma. (b) 2SC stained slide of the right confirmed papillary type 2 renal cell carcinoma. (c) H&E slide of the left benign cystic renal lesion. (d) 2SC stained slide of left benign cystic renal lesion.

Mentions: The gross description of the kidney delineates multiple thin-walled cysts filled with greenish, cloudy fluid in the upper and lower pole of the left kidney. No solid mass was identified. The tissue sections corroborate this with multiple simple cysts lines by a single cell layer with bland cytology. Some cyst-lining cells demonstrate variable amount of eosinophilic cytoplasm and enlarged nuclei with open chromatin and occasional prominent nucleoli. One section contains a single small papillary frond. In comparison with the right nephrectomy tumor specimen, subtle cytological similarity is noted, particularly in the cells lining the cystic spaces containing the papillary tumor (Figure 3). However, the cystic foci from the left kidney do not fulfill criteria for malignancy. 2SC staining of the benign cysts demonstrates profound uptake in the cells lining the cystic spaces similar to the 2SC staining pattern noted in the cystic components of the malignant right-sided type 2 papillary renal cell carcinoma.


Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?

Ristau BT, Kamat SN, Tarin TV - Case Rep Urol (2015)

(a) H&E stained slide of a cystic component of the right confirmed papillary type 2 renal cell carcinoma. (b) 2SC stained slide of the right confirmed papillary type 2 renal cell carcinoma. (c) H&E slide of the left benign cystic renal lesion. (d) 2SC stained slide of left benign cystic renal lesion.
© Copyright Policy - open-access
Related In: Results  -  Collection

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fig3: (a) H&E stained slide of a cystic component of the right confirmed papillary type 2 renal cell carcinoma. (b) 2SC stained slide of the right confirmed papillary type 2 renal cell carcinoma. (c) H&E slide of the left benign cystic renal lesion. (d) 2SC stained slide of left benign cystic renal lesion.
Mentions: The gross description of the kidney delineates multiple thin-walled cysts filled with greenish, cloudy fluid in the upper and lower pole of the left kidney. No solid mass was identified. The tissue sections corroborate this with multiple simple cysts lines by a single cell layer with bland cytology. Some cyst-lining cells demonstrate variable amount of eosinophilic cytoplasm and enlarged nuclei with open chromatin and occasional prominent nucleoli. One section contains a single small papillary frond. In comparison with the right nephrectomy tumor specimen, subtle cytological similarity is noted, particularly in the cells lining the cystic spaces containing the papillary tumor (Figure 3). However, the cystic foci from the left kidney do not fulfill criteria for malignancy. 2SC staining of the benign cysts demonstrates profound uptake in the cells lining the cystic spaces similar to the 2SC staining pattern noted in the cystic components of the malignant right-sided type 2 papillary renal cell carcinoma.

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Deparment of Urology, University of Pittsburgh Medical Center, Pittsburgh, PA 15219, USA.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus