Biomaterial Database

Renal cell carcinoma in tuberous sclerosis complex. 2014

Ping Yang, and Kristine M Cornejo, and Peter M Sadow, and Liang Cheng, and Mingsheng Wang, and Yu Xiao, and Zhong Jiang, and Esther Oliva, and Sergiusz Jozwiak, and Robert L Nussbaum, and Adam S Feldman, and Elahna Paul, and Elizabeth A Thiele, and Jane J Yu, and Elizabeth P Henske, and David J Kwiatkowski, and Robert H Young, and Chin-Lee Wu

Departments of *Pathology **Urology ††Carol and James Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital ‡‡Division of Translational Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston ∥Department of Pathology, University of Massachusetts Medical School, Worcester, MA †Department of Pathology, Sun Yat-sen University Cancer Center, Guangzhou §Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, PR China ‡Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN #Department of Medicine, Division of Genomic Medicine, Institute for Human Genetics, University of California, San Francisco, CA ¶Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.

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.

UI	MeSH Term	Description	Entries
D007150	Immunohistochemistry	Histochemical localization of immunoreactive substances using labeled antibodies as reagents.	Immunocytochemistry,Immunogold Techniques,Immunogold-Silver Techniques,Immunohistocytochemistry,Immunolabeling Techniques,Immunogold Technics,Immunogold-Silver Technics,Immunolabeling Technics,Immunogold Silver Technics,Immunogold Silver Techniques,Immunogold Technic,Immunogold Technique,Immunogold-Silver Technic,Immunogold-Silver Technique,Immunolabeling Technic,Immunolabeling Technique,Technic, Immunogold,Technic, Immunogold-Silver,Technic, Immunolabeling,Technics, Immunogold,Technics, Immunogold-Silver,Technics, Immunolabeling,Technique, Immunogold,Technique, Immunogold-Silver,Technique, Immunolabeling,Techniques, Immunogold,Techniques, Immunogold-Silver,Techniques, Immunolabeling
D007680	Kidney Neoplasms	Tumors or cancers of the KIDNEY.	Cancer of Kidney,Kidney Cancer,Renal Cancer,Cancer of the Kidney,Neoplasms, Kidney,Renal Neoplasms,Cancer, Kidney,Cancer, Renal,Cancers, Kidney,Cancers, Renal,Kidney Cancers,Kidney Neoplasm,Neoplasm, Kidney,Neoplasm, Renal,Neoplasms, Renal,Renal Cancers,Renal Neoplasm
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009626	Terminology as Topic	Works about the terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.	Etymology,Nomenclature as Topic,Etymologies
D011044	Poland	A country in central Europe, east of Germany. The capital is Warsaw.	Polish People's Republic,Republic of Poland
D011237	Predictive Value of Tests	In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test.	Negative Predictive Value,Positive Predictive Value,Predictive Value Of Test,Predictive Values Of Tests,Negative Predictive Values,Positive Predictive Values,Predictive Value, Negative,Predictive Value, Positive
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D002292	Carcinoma, Renal Cell	A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.	Adenocarcinoma, Renal Cell,Carcinoma, Hypernephroid,Grawitz Tumor,Hypernephroma,Renal Carcinoma,Adenocarcinoma Of Kidney,Adenocarcinoma, Renal,Chromophil Renal Cell Carcinoma,Chromophobe Renal Cell Carcinoma,Clear Cell Renal Carcinoma,Clear Cell Renal Cell Carcinoma,Collecting Duct Carcinoma,Collecting Duct Carcinoma (Kidney),Collecting Duct Carcinoma of the Kidney,Nephroid Carcinoma,Papillary Renal Cell Carcinoma,Renal Cell Cancer,Renal Cell Carcinoma,Renal Cell Carcinoma, Papillary,Renal Collecting Duct Carcinoma,Sarcomatoid Renal Cell Carcinoma,Adenocarcinoma Of Kidneys,Adenocarcinomas, Renal Cell,Cancer, Renal Cell,Carcinoma, Collecting Duct,Carcinoma, Collecting Duct (Kidney),Carcinoma, Nephroid,Carcinoma, Renal,Carcinomas, Collecting Duct,Carcinomas, Collecting Duct (Kidney),Carcinomas, Renal Cell,Collecting Duct Carcinomas,Collecting Duct Carcinomas (Kidney),Hypernephroid Carcinoma,Hypernephroid Carcinomas,Hypernephromas,Kidney, Adenocarcinoma Of,Nephroid Carcinomas,Renal Adenocarcinoma,Renal Adenocarcinomas,Renal Carcinomas,Renal Cell Adenocarcinoma,Renal Cell Adenocarcinomas,Renal Cell Cancers,Renal Cell Carcinomas,Tumor, Grawitz
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children