Article
Multidisciplinary Sciences
Marta Dratwa, Barbara Wysoczanska, Aleksandra Butrym, Piotr Lacina, Grzegorz Mazur, Katarzyna Bogunia-Kubik
Summary: The study suggests that telomere length and TERT gene polymorphisms may impact the risk and overall survival of AML patients. AML patients have shorter telomeres compared to healthy controls, and FLT3-ITD mutation may independently affect telomere length. Additionally, AML patients with the TERT rs2853669 CC genotype have significantly shorter overall survival.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Cleandra Gregorio, Shefali Thakur, Raquel Camara Rivero, Simone Marcia dos Santos Machado, Cyrille Cuenin, Christine Carreira, Valerie White, Ian A. Cree, Katarina Vukojevic, Merica Glavina Durdov, Alessandro Bersch Osvaldt, Patricia Ashton-Prolla, Zdenko Herceg, Fazlur Rahman Talukdar
Summary: This study found that periampullary carcinoma (PAC) tissues have shorter telomeres, lower TERT protein expression, and DNA hypermethylation in the TERT promoter. These findings are important for understanding the molecular pathology of PAC and developing therapeutic strategies.
Article
Medicine, Research & Experimental
Kristen E. Schratz, Valeriya Gaysinskaya, Zoe L. Cosner, Emily A. DeBoy, Zhimin Xiang, Laura Kasch-Semenza, Liliana Florea, Pali D. Shah, Mary Armanios
Summary: The study revealed that patients with germline telomere maintenance defects exhibit diverse somatic adaptive mutations, which may alleviate the telomere crisis that promotes transformation to MDS/AML.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Biochemistry & Molecular Biology
Francois Hafezi, Lisa Jaxel, Morgane Lemaire, Jonathan D. Turner, Danielle Perez-Bercoff
Summary: TERT promoter mutations, especially the -124C>T mutation, play a crucial role in the reactivation of telomerase reverse transcriptase. The mutations generally lead to increased TERT transcription levels, with the double mutation showing the highest impact. Additionally, the presence of these mutations may unleash antisense transcription and lncRNA TAPAS might help balance the effects of TERT promoter mutations.
Article
Cell Biology
Hui Wang, Hongyang Xu, Wenting Lyu, Qinghua Xu, Shiwen Fan, Haoran Chen, Dongjin Wang, Jingyu Chen, Jinghong Dai
Summary: This study identified that KLF4 may be involved in the pathogenesis of lung fibrosis by regulating TERT transcription in AECs, suggesting that KLF4 could be a promising potential target for further understanding the mechanism and developing novel strategies for the treatment of lung fibrosis in IPF.
CELL DEATH & DISEASE
(2022)
Article
Medicine, Research & Experimental
Donghyun D. Lee, Martin Komosa, Sumedha Sudhaman, Ricardo Leao, Cindy H. Zhang, Joana D. Apolonio, Thomas Hermanns, Peter J. Wild, Helmut Klocker, Farshad Nassiri, Gelareh Zadeh, Bill H. Diplas, Hai Yan, Steven Gallinger, Trevor J. Pugh, Vijay Ramaswamy, Michael D. Taylor, Pedro Castelo-Branco, Nuno Miguel Nunes, Uri Tabori
Summary: The research found that allele-specific DNA methylation within the TERT promoter plays a significant regulatory role in cancer, especially more common in adult cancers and enriched in tumors with TERT promoter mutations. This allele-specific DNA methylation is essential for the regulation of TERT expression in cancer.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Biochemistry & Molecular Biology
Taylor Takasugi, Peili Gu, Fengshan Liang, Isabelle Staco, Sandy Chang
Summary: Malignant cancers activate telomere maintenance mechanisms through POT1, and loss of POT1 function promotes telomere elongation. Serial transplantation of Pot1b(-/-) sarcomas reveals shortened telomeres in early-generation and hyper-elongated telomeres recognized as damaged DNA in late-generation Pot1b(-/-) cells. RPA-ATR-dependent DNA damage response at telomeres recruits telomerase for hyper-elongation, while POT1b unfolds G-quadruplex and represses the DNA damage response.
NUCLEIC ACIDS RESEARCH
(2023)
Review
Oncology
Sivaramakrishna Rachakonda, Jorg D. Hoheisel, Rajiv Kumar
Summary: Telomere shortening acts as a tumor suppressor by restricting replicative potential, while cancer cells evade this limitation through telomerase reactivation. Mutations in the TERT promoter increase TERT transcription, delaying senescence but not preventing telomere shortening. The scarcity of functional mutations outside coding sequences suggests evolutionary constraints on human genomes.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Endocrinology & Metabolism
Sandeep Kumar Parvathareddy, Abdul K. Siraj, Kaleem Iqbal, Zeeshan Qadri, Saeeda O. Ahmed, Maha Al-Rasheed, Ahmed A. AlQatie, Saif S. Al-Sobhi, Fouad Al-Dayel, Khawla S. Al-Kuraya
Summary: The study found a high frequency of TERT promoter mutation in Saudi patients with PTMC, which was significantly associated with DM occurrence and shorter metastasis-free survival.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Oncology
Maaike van Gerwen, Janete Maria Cerutti, Thais Biude Mendes, Rachel Brody, Eric Genden, Gregory J. Riggins, Emanuela Taioli
Summary: The study found that TERT promoter mutations were more common in thyroid cancers of individuals exposed to the World Trade Center disaster, potentially explaining the increased risk of thyroid cancer in this population.
Article
Cell Biology
Andrew M. McKinney, Radhika Mathur, Nicholas O. Stevers, Annette M. Molinaro, Susan M. Chang, Joanna J. Phillips, Joseph F. Costello
Summary: Telomerase activation counteracts senescence and telomere erosion caused by uncontrolled proliferation. This study investigates the functional connection between EGFR amplification and TERTp mutations in glioblastoma. The researchers find that a critical proliferation-to-immortality pathway exists from EGFR to TERT expression selectively through activation of AMPK and GABP upregulation. The study reveals how the tumor cell immortality mechanism keeps pace with persistent oncogene signaling and cell cycling.
Review
Biotechnology & Applied Microbiology
Song Wan, Xuan Liu, Wei Hua, Ming Xi, Yulin Zhou, Yueping Wan
Summary: TERT promoter mutations are common in bladder cancer and significantly associated with recurrence, but not with overall survival. Bladder cancer patients with TERT promoter mutations have a higher risk of recurrence, making it a potential predictor for bladder cancer recurrence.
Review
Immunology
Tiantian Liu, Shihong Li, Chuanyou Xia, Dawei Xu
Summary: This article reviews recent mechanistic insights into altered TERT promoter-mediated telomerase activation in urothelial carcinomas (UCs) and discusses potential clinical implications.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Oncology
Shunichiro Miki, Tomoyuki Koga, Andrew M. Mckinney, Alison D. Parisian, Takahiro Tadokoro, Raghavendra Vadla, Martin Masala, Robert F. Hevner, Joseph F. Costello, Frank Furnari
Summary: The researchers established a model to study the role of heterozygous TERT promoter mutations (TPMs) in glioblastoma initiation. They found that the mutation enhanced tumorigenesis and maintained short telomeres, providing insights into TERT promoter-specific vulnerabilities.
Article
Endocrinology & Metabolism
Jose Italo Soares Mota, Rui Milton Patricio Silva-Junior, Clarissa Silva Martins, Ana Carolina Bueno, Luiz Eduardo Wildemberg, Ximene Lima da Silva Antunes, Jorge Guilherme Okanobo Ozaki, Fernanda Borchers Coeli-Lacchini, Carlos Garcia-Peral, Antonio Edson Rocha Oliveira, Antonio Carlos Santos, Ayrton Custodio Moreira, Helio Rubens Machado, Marcelo Volpon dos Santos, Leandro M. Colli, Monica R. Gadelha, Sonir Roberto R. Antonini, Margaret de Castro
Summary: This study evaluated the behavior of telomere length in adamantinomtous craniopharyngioma (aCP) and found that CTNNB1 mutations are associated with progressive disease and shorter telomeres in aCP.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Oncology
Lorenzo Marconi, Maxine Sun, Christian Beisland, Tobias Klatte, Boerje Ljungberg, Grant D. Stewart, Saeed Dabestani, Toni K. Choueiri, Axel Bex
Summary: This study utilized a European database to provide estimated survival time benchmarks for high-risk RCC patients receiving immunotherapy after nephrectomy, which can aid in patient selection and future trial design optimization.
CLINICAL GENITOURINARY CANCER
(2021)
Editorial Material
Urology & Nephrology
Borje Ljungberg, Axel Bex
Article
Health Care Sciences & Services
Andreas Karlsson Rosenblad, Pernilla Sundqvist, Bodil Westman, Borje Ljungberg
Summary: The study evaluated the factor structure of the FKSI-19 instrument in RCC patients and found that the hypothesized four-factor structure had barely acceptable model fit. An alternative two-factor structure derived from FKSI-19 items may be used as an alternative or complement when interpreting the instrument.
QUALITY OF LIFE RESEARCH
(2021)
Article
Dermatology
Caroline Gaudy-Marqueste, Nicolas Macagno, Anderson Loundou, Eric Pellegrino, L'houcine Ouafik, Timothy Budden, Piyushkumar Mundra, Gabriela Gremel, Victoria Akhras, Lijing Lin, Martin Cook, Rajiv Kumar, Jean-Jacques Grob, Eduardo Nagore, Richard Marais, Amaya Viros
Summary: This study investigates the stratification of primary cutaneous melanomas with a thickness >= 1 mm based on their rate of growth, and comprehensively explores their epidemiologic, clinical, and mutational profiles. The results indicate that fast-growing melanomas are associated with specific tumor biology and environmental factors.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2022)
Article
Urology & Nephrology
Alexander Mountzias, Johan Hultdin, Jan Hlodan, Britt-Inger Kroger Dahlin, Mattias Johansson, Borje Ljungberg
Summary: This study evaluated albumin, CRP, and GPS as prognostic indicators in patients with primary RCC. CRP showed the strongest prognostic association and remained independent in multivariate analysis. Elevated CRP, low albumin levels, and elevated GPSs were associated with poor survival in RCC patients.
SCANDINAVIAN JOURNAL OF UROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Shamima Akter, Shafaat Hossain, Md. Ackas Ali, Md. Ismail Hosen, Hossain Uddin Shekhar
Summary: This study comprehensively investigated the functional and structural significance of coding and non-coding SNPs in the TP63 gene using computational tools and molecular dynamics simulation. The results showed that specific nsSNPs have deleterious impacts on protein stability and function, with some nsSNPs potentially disrupting TP63 binding to DNA. This in-depth characterization of SNPs in the TP63 gene provides valuable insights for researchers to understand the association of these variants with certain diseases.
Article
Microbiology
Pham Xuan Huy, Dang Thanh Chung, Dang Thuy Linh, Ngo Thu Hang, Sivaramakrishna Rachakonda, Srinivas Reddy Pallerla, Le Thi Kieu Linh, Hoang Van Tong, Le Minh Dung, Can Van Mao, Heiner Wedemeyer, C-Thomas Bock, Peter G. Kremsner, Le Huu Song, Bui Tien Sy, Nguyen Linh Toan, Thirumalaisamy P. Velavan
Summary: The study found that mother-to-child transmission of HEV infection in pregnant women is not common and does not have adverse effects on infants. HEV-3 genotype may have originated from animals, but it does not affect pregnancy outcomes or mother-to-child transmission.
Article
Dermatology
Alicia Gavillero, Zaida Garcia-Casado, Celia Requena, Esperanza Manrique-Silva, Victor Traves, Rajiv Kumar, Eduardo Nagore
Summary: This study investigates the differences in melanomas of the lower limb by location and finds that melanoma in the foot is less related to sun exposure and is associated with a worse prognosis and poorer survival.
Article
Medicine, Research & Experimental
Mascha Thurm, Magnus Hultin, Goran Johansson, Britt-IngerKroger Dahlin, Ola Winso, Borje Ljungberg
Summary: Spinal anaesthesia (SpA) is effective in pain management and promotes faster recovery and shorter hospital stay after open nephrectomy for renal cell carcinoma.
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2022)
Article
Nutrition & Dietetics
Liesel Claeys, Sarah De Saeger, Ghislaine Scelo, Carine Biessy, Corinne Casagrande, Genevieve Nicolas, Michael Korenjak, Beatrice Fervers, Alicia K. Heath, Vittorio Krogh, Leila Lujan-Barroso, Jesus Castilla, Borje Ljungberg, Miguel Rodriguez-Barranco, Ulrika Ericson, Carmen Santiuste, Alberto Catalano, Kim Overvad, Magritt Brustad, Marc J. Gunter, Jiri Zavadil, Marthe De Boevre, Inge Huybrechts
Summary: This study aimed to assess the potential associations between mycotoxin exposures and renal cell carcinoma (RCC) risk. Analyzing data from the EPIC cohort, the results showed that long-term dietary mycotoxin exposures were not statistically significantly associated with RCC risk. However, further validation in other cohorts and repeated dietary exposure measurements are needed.
Editorial Material
Urology & Nephrology
Ljungberg
SCANDINAVIAN JOURNAL OF UROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Hamid Pakmanesh, Omid Anvari, Nathalie Forey, Elisabete Weiderpass, Reza Malekpourafshar, Maryam Iranpour, Armita Shahesmaeili, Nahid Ahmadi, Azam Bazrafshan, Kazem Zendehdel, Caroline Kannengiesser, Ibrahima Ba, James McKay, Maria Zvereva, Md Ismail Hosen, Mahdi Sheikh, Florence Le Calvez-Kelm
Summary: This study aimed to evaluate the validity of using uTERTpm as a non-invasive urinary biomarker to detect bladder cancer. The results showed that uTERTpm had a sensitivity of 100% and specificity of 88% in detecting primary bladder cancer, with consistent results across different tumor stages and grades. Compared to urine cytology, uTERTpm had higher specificity and combined sensitivity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Urology & Nephrology
Tarik Almdalal, Andreas Karlsson Rosenblad, Mikael Hellstrom, Anders Kjellman, Per Lindblad, Sven Lundstam, Pernilla Sundqvist, Borje Ljungberg
Summary: This study examined the association between different treatments and disease recurrence as well as overall survival in patients with cT1RCC. The findings suggest that age, gender, tumor size, RCC type, and treatment modality are all factors associated with the risk of recurrence and overall survival. Patients with chRCC and those treated with PN had better overall survival compared to ccRCC patients and those treated with RN.
SCANDINAVIAN JOURNAL OF UROLOGY
(2023)
Article
Nutrition & Dietetics
Iris W. A. Boot, Anke Wesselius, Evan Y. W. Yu, Emily White, Margritt Brustad, Chloe Marques, Borje Ljungberg, Maurice P. Zeegers
Summary: This study investigated the relationship between vitamin D intake and bladder cancer risk. The results showed that high intake of vitamin D combined with low intake of calcium and moderate intake of phosphorus is associated with a decreased risk of bladder cancer.
CLINICAL NUTRITION
(2023)
Article
Urology & Nephrology
Tarik Almdalal, Pernilla Sundqvist, Ulrika Harmenberg, Mikael Hellstrom, Magnus Lindskog, Per Lindblad, Svan Lundstam, Borje Ljungberg
Summary: This study aimed to identify factors associated with the risk of local and distant recurrence and overall survival in patients with primary nonmetastatic clinical T1a RCC. The results showed that tumor size, upstaging, and ablation were associated with the risk of recurrence, while tumor size and recurrence were associated with decreased overall survival. In a real-world setting, patients with partial nephrectomy and chromophobe RCC had prolonged overall survival.
EUROPEAN UROLOGY OPEN SCIENCE
(2022)