[621] Are Adrenal Lesions Part of the Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC)?

Brian Shuch, Marston Linehan, Maria J Merino. NCI, Bethesda, MD

Background: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a syndrome characterized by cutaneous leiomyomas, uterine fibroids, and renal cell carcinoma (RCC). Recently, we have observed that HLRCC patients also presented with adrenal nodules, or, adrenal nodules were found at the time of surgery. This study reports our findings to further define if the adrenal lesions are a new component of the HLRCC phenotype.
Design: A prospectively collected database of all HLRCC patients seen at our institution was reviewed for patients with adrenal masses on radiographic imaging. Patient data, imaging studies, endocrine manifestations, management, and pathologic findings were reviewed. Available cases were further studied to look for a loss of heterozygocity (LOH) in the fumarate hydratase gene (FH) by florescence in situ hybridization (FISH) and polymerase chain reaction (PCR).
Results: Twenty of 255 HLRCC patients (7.8%) were identified as having a primary adrenal pathology. Two patients had symptoms of hypercortisolism. Radiographically, three patients had bilateral adrenal lesions (one patient had a solitary nodule in each gland and the other two had two predominant nodules bilaterally). Four patients had multiple bilateral nodules. PET imaging was performed in 10 cases and was positive in 7 (70%). Due to concern for possible malignancy, 9 patients underwent surgery. Pathology demonstrated macro and micronodular adrenal hyperplasia in all specimens. There was no evidence of metastatic disease in any of the glands. PCR and FISH demonstrated that the majority of cases did not demonstrate LOH of FH. The remaining 11 patients are being clinically followed.
Conclusions: We conclude that adrenal micro and macronodular hyperplasia is most likely part of the HLRCC syndrome. A functional endocrine workup as well as adrenal imaging studies should be performed in all patients with suspected or confirmed HLRCC syndrome or germ line FH mutation.
Category: Endocrine

Tuesday, March 20, 2012 1:00 PM

Poster Session IV # 49, Tuesday Afternoon


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