scholarly journals Analysis of the impact of long non-coding RNA gene polymorphisms (ANRIL, MALAT1, HOTAIR) on some clinical and pathologic features in patients with bladder cancer

2021 ◽  
Vol 25 (2(98)) ◽  
pp. 13-21
Author(s):  
A. Volkohon ◽  
V. Harbuzova ◽  
I. Danilishin ◽  
D. Nechyporenko ◽  
O. Ataman

Objective – to analyze the possible association between the SNPs rs4977574 (ANRIL gene), rs3200401 (MALAT1 gene), rs1899663 (HOTAIR gene) and tumor size and some clinical and laboratory testing data in patients with transitional cell carcinoma of the urinary bladder (TCCUB).Material and methods. Whole venous blood of 141 patients with TCCUB was used. The genotyping of rs4977574 and rs3200401 sites was performed by real-time polymerase chain reaction (Real-time PCR). The rs1899663 locus genotyping was done by polymerase chain reaction followed by restriction fragment length polymorphism analysis (PCR-RFLP). Mathematical analysis of the obtained data was performed using the software package SPSS (version 17.0).Results. It was found that individuals with TT-genotype (rs3200401-polymorphism) have a lower blood hemoglobin content ((106.3 ± 23.9) g/l; P = 0.043) and higher blood glucose ((7.1 ± 2.3) mmol/l; P = 0.043) and creatinine ((104.5 ± 33.8) μmol/l; P = 0.022) than patients with CC genotype (respectively: (131.1 ± 21.9) g/l); (5.4 ± 1.5) mmol/l); (83.8 ± 18.5) μmol/l)). TT-homozygotes also have the higher tumor width ((4.2 ± 1.7) cm; P = 0.027) than in CC-homozygotes ((2.9 ± 1.1) cm). No significant association between rs4977574, rs1899663 loci and studied parameters was found.Conclusion. The MALAT1 gene rs3200401 polymorphism is associated with tumor size and blood hemoglobin, glucose, and creatinine levels in patients with TCCUB. No association between rs1899663, rs4977574 loci and clinical and pathological features in patients with TCUUB was detected.

2003 ◽  
Vol 6 (1) ◽  
pp. 24-34 ◽  
Author(s):  
D. Ashley Hill ◽  
Shannon E. Riedley ◽  
Anami R. Patel ◽  
Sheila A. Shurtleff ◽  
Jennifer Hyer ◽  
...  

Synovial sarcoma is the most common nonrhabdomyosarcomatous soft tissue sarcoma in children and adolescents and is characterized by a reciprocal t(X;18)(p11;q11) which results in the fusion of the SYT gene on chromosome 18q11 to either of two closely related genes, SSX1 (Xp11.23) or SSX2 (Xp11.21). Detection of this translocation or its resultant gene fusion by molecular methods is helpful in the pathologic diagnosis of synovial sarcoma, especially in poorly differentiated tumors. This study was designed to evaluate the utility of a real-time reverse transcriptase-polymerase chain reaction (RT-PCR) assay to detect and distinguish SYT-SSX1 and SYT-SSX2 fusions in fresh and archival specimens of synovial sarcoma in pediatric patients seen at St. Jude Children's Research Hospital. In addition, the clinico-pathologic features of the tumors with SYT-SSX1 vs. SYT-SSX2 fusions were compared. The 25 patients studied had a median age of 13 years 9 months (range 5 to 19 years). Estimates of survival and event-free survival at 5 years were 78.7 ± 10.5% and 56.2 ± 13.2%, respectively. Seventeen (68%) tumors were monophasic, eight (32%) were biphasic. Seven tumors contained poorly differentiated areas. Positive results for either SYT-SSX1 or SYT-SSX2 were obtained in 21/25 (84%) cases. Three cases did not have a detectable gene fusion and one had no amplifiable RNA. SYT-SSX1 transcripts were found in 18/24 (75%) of the tumors while SYT-SSX2 transcripts were identified in 3/24 (12.5%). All of the poorly differentiated tumors and seven out of eight tumors from patients who developed lung metastases had an SYT-SSX1 fusion transcript. Real-time PCR is useful in detecting and distinguishing SYT-SSX1 from SYT-SSX2 gene fusions in synovial sarcoma. Valuable aspects of this methodology are the applicability to both frozen and formalin-fixed samples, decreased labor costs, and the rapidity of results. In addition, distinguishing SYT-SSX1 from SYT-SSX2 fusions with these methods allow for prospective collection of information that may clarify issues of prognostic relevance.


2005 ◽  
Vol 192 (6) ◽  
pp. 1052-1060 ◽  
Author(s):  
Kaharu C. Sumino ◽  
Eugene Agapov ◽  
Richard A. Pierce ◽  
Elbert P. Trulock ◽  
John D. Pfeifer ◽  
...  

Abstract BackgroundInfections with common respiratory tract viruses can cause high mortality, especially in immunocompromised hosts, but the impact of human metapneumovirus (hMPV) in this setting was previously unknown MethodsWe evaluated consecutive bronchoalveolar lavage and bronchial wash fluid samples from 688 patients—72% were immunocompromised and were predominantly lung transplant recipients—for hMPV by use of quantitative real-time polymerase chain reaction (PCR), and positive results were correlated with clinical outcome and results of viral cultures, in situ hybridization, and lung histopathological assessment ResultsSix cases of hMPV infection were identified, and they had a similar frequency and occurred in a similar age range as other paramyxoviral infections. Four of 6 infections occurred in immunocompromised patients. Infection was confirmed by in situ hybridization for the viral nucleocapsid gene. Histopathological assessment of lung tissue samples showed acute and organizing injury, and smudge cell formation was distinct from findings in infections with other paramyxoviruses. Each patient with high titers of hMPV exhibited a complicated clinical course requiring prolonged hospitalization ConclusionsOur results provide in situ evidence of hMPV infection in humans and suggest that hMPV is a cause of clinically severe lower respiratory tract infection that can be detected during bronchoscopy by use of real-time PCR and routine histopathological assessment


2006 ◽  
Vol 175 (4S) ◽  
pp. 485-486
Author(s):  
Sabarinath B. Nair ◽  
Christodoulos Pipinikas ◽  
Roger Kirby ◽  
Nick Carter ◽  
Christiane Fenske

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