1. Renal cell carcinoma in tuberous sclerosis complex.
- Author
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Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, and Wu CL
- Subjects
- Adult, Biomarkers, Tumor analysis, Biomarkers, Tumor genetics, Carcinoma, Renal Cell chemistry, Carcinoma, Renal Cell classification, Carcinoma, Renal Cell genetics, Carcinoma, Renal Cell mortality, Carcinoma, Renal Cell pathology, Child, China, Female, Humans, Immunohistochemistry, In Situ Hybridization, Fluorescence, Kidney Neoplasms chemistry, Kidney Neoplasms classification, Kidney Neoplasms genetics, Kidney Neoplasms mortality, Kidney Neoplasms pathology, Male, Middle Aged, Neoplasm Grading, Poland, Predictive Value of Tests, Prognosis, Terminology as Topic, Tuberous Sclerosis mortality, Tumor Burden, United States, Young Adult, Carcinoma, Renal Cell etiology, Kidney Neoplasms etiology, Tuberous Sclerosis complications
- Abstract
Renal cell carcinoma (RCC) occurs in 2% to 4% of patients with tuberous sclerosis complex (TSC). Previous reports have noted a variety of histologic appearances in these cancers, but the full spectrum of morphologic and molecular features has not been fully elucidated. We encountered 46 renal epithelial neoplasms from 19 TSC patients and analyzed their clinical, pathologic, and molecular features, enabling separation of these 46 tumors into 3 groups. The largest subset of tumors (n=24) had a distinct morphologic, immunologic, and molecular profile, including prominent papillary architecture and uniformly deficient succinate dehydrogenase subunit B (SDHB) expression prompting the novel term "TSC-associated papillary RCC (PRCC)." The second group (n=15) were morphologically similar to a hybrid oncocytic/chromophobe tumor (HOCT), whereas the last 7 renal epithelial neoplasms of group 3 remained unclassifiable. The TSC-associated PRCCs had prominent papillary architecture lined by clear cells with delicate eosinophilic cytoplasmic thread-like strands that occasionally appeared more prominent and aggregated to form eosinophilic globules. All 24 (100%) of these tumors were International Society of Urological Pathology (ISUP) nucleolar grade 2 or 3 with mostly basally located nuclei. Tumor cells from 17 of 24 TSC-associated PRCCs showed strong, diffuse labeling for carbonic anhydrase IX (100%), CK7 (94%), vimentin (88%), and CD10 (83%) and were uniformly negative for SDHB, TFE3, and AMACR. Gains of chromosomes 7 and 17 were found in 2 tumors, whereas chromosome 3p deletion and TFE3 translocations were not detected. In this study, we reported a sizable cohort of renal tumors seen in TSC and were able to identify them as different morphotypes, which may help to expand the morphologic spectrum of TSC-associated RCC.
- Published
- 2014
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