Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0677930 (primary tumor)
 20,210 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clear cell (CRCC), papillary (PRCC) and chromophobe (CHRC) renal cell carcinoma (RCC) are the three most frequent subtypes of RCC. The rate and distribution of their metastatic lesions have not been well documented. We compared metastatic RCC according to subtype and primary tumor characteristics to better understand their behavior and to aid in the diagnosis of metastatic RCC. Pathology reports and clinical charts related to 283 CRCC, 48 PRCC and 13 CHRCC, including their respective sarcomatoid variants, were reviewed. A hundred and thirty-seven CRCC, 5 PRCC and 1 CHRCC with metastases were identified. CRCC and non-CRCC (PRCC and CHRCC) had different patterns of metastasis and primary tumor growth. CRCC metastases were predominantly distributed in lungs, bone, brain, lymph nodes, and adrenal glands. The associated primary CRCC measured 1.5 to 15 cm, were of all grades and stages, and were often associated with invasion of small or large veins. Three PRCC had regional lymph node metastases, 1 PRCC had both regional and mediastinal lymph node metastases. Bone metastasis was present in 1 case each of PRCC and CHRCC. One PRCC with metastasis solely to regional nodes measured 4 cm. The other 4 cases of PRCC with regional lymph node and/or distant metastases as well as the CHRCC with distant metastases were greater than 8 cm in diameter. In metastasizing and non-metastasizing non-CRCC, invasion of small veins was rare and invasion of renal veins was not seen. We cannot comment with any certainty on the metastatic behavior of CHRCC. In our experience, PRCC tend to loco-regional invasion with lymph node spread. They have a low potential for vascular invasion and distant metastases that likely occur only at late stages of the disease. CRCC has a propensity for vascular invasion and may be associated with distant metastasis at an early stage. Therefore, metastatic RCC at a distant location are most likely to be of CRCC origin than PRCC origin.
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PMID:A comparative study of metastatic renal cell carcinoma with correlation to subtype and primary tumor. 1170 Aug 88

Clear-cell (CRCC), papillary (PRCC), and chromophobe (CHRCC) renal-cell carcinoma (RCC) are the three most frequent subtypes of RCC. The rate and distribution of their metastatic lesions have not been well studied in cytopathological materials. Sixty-two fine-needle aspiration biopsy cases of metastatic RCC were studied and correlated with surgical pathology of RCCs with and without metastasis. Special stains for glycogen and immunostaining for cytokeratins, vimentin epithelial membrane antigen (EMA), and carcinoembryonic antigens, and electron microscopic studies were performed. Fifty-nine cases of CRCC and three of PRCC subtypes were retrieved from the cytopathology files at the Ottawa Hospital in a period of 10 years. Of these cases, 10 metastatic CRCC and one metastatic PRCC were diagnosed prior to the diagnosis of the primary tumor. CHRCC and sarcomatoid RCC were not represented in cytopathological specimens. CRCC displayed characteristic filmy cytoplasm and nuclei with prominent nucleoli. PRCC was characterized by dense cytoplasm, large nuclei with prominent nucleoli, and papillary architectures. In addition, all RCCs were characterized by the presence of glycogen and the absence of mucin by using histochemical techniques and electron microscopic studies and positive reactivity for cytokeratins (CK) and vimentin (VIM). In the same period, there were a total of 380 patients with RCC divided into 310 CRCCs, 55 PRCCs, and 15 CHRCCs associated with metastases in 142, 9, and 1 case, respectively. CRCC is by far the most common subtype found in metastases sampled in cytopathology. PRCC, CHRCC, and sarcomatoid RCC were underrepresented. Awareness of this propensity of RCC and the characteristic cytopathological, histochemical, immunohistochemical, and ultrastructural features are helpful in the diagnosis of metastatic RCC.
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PMID:Distribution of subtypes of metastatic renal-cell carcinoma: correlating findings of fine-needle aspiration biopsy and surgical pathology. 1256 Oct 22

The MITF/TFE subfamily of basic helix-loop-helix leucine-zipper (bHLH-LZ) transcription factors consists of four closely related members, TFE3, TFEB, TFEC and MITF, which can form both homo- and heterodimers. Previously, we demonstrated that in t(X;1)(p11;q21)-positive renal cell carcinomas (RCCs), the TFE3 gene on the X chromosome is disrupted and fused to the PRCC gene on chromosome 1. Here we show that in t(6;11)(p21;q13)-positive RCCs the TFEB gene on chromosome 6 is fused to the Alpha gene on chromosome 11. The AlphaTFEB fusion gene appears to contain all coding exons of the TFEB gene linked to 5' upstream regulatory sequences of the Alpha gene. Quantitative PCR analysis revealed that AlphaTFEB mRNA levels are up to 60-fold upregulated in primary tumor cells as compared with wild-type TFEB mRNA levels in normal kidney samples, resulting in a dramatic upregulation of TFEB protein levels. Additional transfection studies revealed that the TFEB protein encoded by the AlphaTFEB fusion gene is efficiently targeted to the nucleus. Based on these results we conclude that the RCC-associated t(6;11)(p21;q13) translocation leads to a dramatic transcriptional and translational upregulation of TFEB due to promoter substitution, thereby severely unbalancing the nuclear ratios of the MITF/TFE subfamily members. We speculate that this imbalance may lead to changes in the expression of downstream target genes, ultimately resulting in the development of RCC. Moreover, since this is the second MITF/TFE transcription factor that is involved in RCC development, our findings point towards a concept in which this bHLH-LZ subfamily may play a critical role in the regulation of (aberrant) renal cellular growth.
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PMID:Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution. 1283 90