Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

TERT promoter mutations are identified in many malignancies including bladder cancer (BC) and upper tract urothelial carcinoma (UTUC). In contrast, no mutations were found in renal cell carcinoma (RCC) as reported in a recent study. Because the mutant TERT promoter in urine DNA was recently tested as a marker for BC, it is important to ascertain whether these mutations are truly absent in RCCs. Here we determined TERT promoter mutations in 109 patients with RCC and 14 patients with UTUC. The mutations were found in 9/96 (9.3%) clear cell RCC (ccRCC) tumors and 1/8 (13%) chromophobe RCC tumors. Among ccRCC patients, the mutation was correlated with the advanced stages and metastasis, and higher TERT expression. Among UTUCs, the mutation was detected in tumors from 3/5 (60%) patients with renal pelvic cancer and 1/9 (11%) patients with ureter cancer. The mutation was also detected in 1 of 4 urine samples from patients with mutation+ UTUC. Collectively, TERT promoter mutations do occur in RCCs and are associated with aggressive disease. The mutation is more frequent in renal pelvic cancer. Thus, the mutant TERT promoter found in urine may come from not only BC, but also RCC or UTUC.
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PMID:TERT promoter mutations in renal cell carcinomas and upper tract urothelial carcinomas. 2474 67

TERT promoter C228T and C250T mutations occur in various malignancies including bladder cancer (BC) and may serve as urinary tumor markers. However, the mutation association with clinical variables in upper tract urothelial carcinomas (UTUCs) is unclear. There is also a lack of sensitive tools to detect the minor mutant TERT promoter in bulk urinary DNA. Here we analyzed 220 UTUC patients [98 with renal pelvic carcinoma (RPC) and 122 with ureter carcinoma (UC)] and developed a Competitive Allele-Specific TaqMan PCR (castPCR) for urinary assay. We identified C228T or C250T mutations in 42 of 98 (43%) RPC and 23 of 122 (19%) UC tumors. Distant metastases were significantly correlated with UTUC patients harboring TERT promoter mutations (P = 0.001). C228T were detected in 6/10 and 9/10 of urine samples from patients with mutation-carrying tumors using Sanger sequencing and castPCR, respectively. When urine samples from 70 BC patients were analyzed together, the sensitivity of urinary C228T assay was 89% and 50% for castPCR and Sanger sequencing, respectively (P < 0.001). Collectively, TERT promoter mutations occur in UTUCs with a high frequency in RPCs and predict distant metastasis. castPCR assays of the mutation are a useful tool for urine-based diagnostics of urological malignancies.
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PMID:TERT promoter mutations are associated with distant metastases in upper tract urothelial carcinomas and serve as urinary biomarkers detected by a sensitive castPCR. 2547 36

We report 13 cases of unique polypoid urothelial tumors with inverted growth pattern (PUTIPs) occurring in the proximal ureter and renal pelvis. We describe their morphologic features and further characterize them in regard to TERT promoter mutation status and microsatellite instability. Thirteen cases were identified in our consult archives from 1994 to present. Patients ranged in age from 52 to 83 years at the time of diagnosis (mean, 68.4 years). Grossly, lesions were described variously as pink-tan to white exophytic and friable lesions that were polypoid or pedunculated, located in the renal pelvis or proximal ureter. The masses ranged in size from 0.5 to 3.2 cm (mean, 1.6 cm). PUTIP is a polypoid, plaque-like lesion with features of the following: (1) inverted papillary urothelial neoplasm of low malignant potential, lacking an exophytic papillary component; (2) florid von Brunn nest proliferation within and radiating outward from the polypoid lesion; and (3) in some cases, an inverted papilloma with densely hyalinized collagenous stroma. All 4 PUTIPs with formalin-fixed, paraffin-embedded material available were positive for the TERT promoter mutation 228G>A by polymerase chain reaction and were microsatellite stable. Given that PUTIP clinically forms a tumor and is typically treated by nephroureterectomy, it is best regarded as a unique benign urothelial neoplasm that exclusively occurs in the renal pelvis/proximal ureter.
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PMID:Polypoid urothelial tumor with inverted growth pattern in the renal pelvis: morphologic and molecular characteristics of a unique diagnostic entity. 2757 10