Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?. (25th August 2015)

• Record Type: Journal Article
• Authors: Ristau, Benjamin T.; Kamat, Sonal N.; Tarin, Tatum V.
• Other Names: Goel Apul Academic Editor.
• Is Part Of: Case reports in urology. Volume 2015(2015)
• Publication Date: 2015-08-25
• Subjects: Urology -- Periodicals; Urology -- Case studies -- Periodicals; Genitourinary organs -- Diseases -- Periodicals; Urologic Diseases; Genitourinary organs -- Diseases; Urology; Periodicals; Case studies; Periodicals; 616.6005
• DOI: 10.1155/2015/303872
• Languages: English
• ISSNs: 2090-696X

Abstract

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 1 α (HIF-1 α ) 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.