17 documents found, page 1 of 2
Tert expression in meningiomas predicts progression-free survival independent o...
Gui, Chloe; Wang, Justin; Patil, Vikas; Landry, Alexander; Castelo-Branco, Pedro; Singh, Olivia; Tabori, Uri; Aldape, Kenneth; Behling, FelixWhile TERT promoter mutation (TPM) has been es¬tablished as a marker of clinically aggressive meningiomas, this alteration is rare and found in less than 5% of all cases. However, a larger subset of meningiomas may exhibit aberrant TERT expression in the absence of TPMs. This study investigated the effect of TERT gene expression on clinical outcome in meningioma patients. METHODS: Clinical and mo¬lecular data w...
Analysis of TERT association with clinical outcome in meningiomas: a multi-inst...
Gui, Chloe; Wang, Justin Z.; Patil, Vikas; Landry, Alexander P.; Castelo-Branco, Pedro; Singh, Olivia; Tabori, Uri; Aldape, Kenneth; Behling, FelixBackground TERT promoter mutation is a rare biomarker in meningiomas associated with aberrant TERT expression and reduced progression-free survival. Although high TERT expression is characteristic of tumours with TERT promoter mutations, it has also been observed in tumours with wildtype TERT promoters. This study aimed to investigate the prevalence and prognostic association of TERT expression in meningiomas.
THOR is a targetable epigenetic biomarker with clinical implications in breast ...
Apolónio, Joana; Dias, João S.; Fernandes, Mónica T.; Komosa, Martin; Lipman, Tatiana; Zhang, Cindy H.; Leão, Ricardo; Lee, Donghyun; Nunes, Nuno M.Breast cancer (BC) is the most frequently diagnosed cancer and a leading cause of death among women worldwide. Early BC is potentially curable, but the mortality rates still observed among BC patients demon‑ strate the urgent need of novel and more efective diagnostic and therapeutic options. Limitless self-renewal is a hallmark of cancer, governed by telomere maintenance. In around 95% of BC cases, this proces...
The transcriptional landscape of Shh medulloblastoma
Skowron, Patryk; Farooq, Hamza; Cavalli, Florence M. G.; Morrissy, A. Sorana; Ly, Michelle; Hendrikse, Liam D.; Wang, Evan Y.; Djambazian, HaigSonic hedgehog medulloblastoma encompasses a clinically and molecularly diverse group of cancers of the developing central nervous system. Here, we use unbiased sequencing of the transcriptome across a large cohort of 250 tumors to reveal differences among molecular subtypes of the disease, and demonstrate the previously unappreciated importance of non-coding RNA transcripts. We identify alterations within the ...
Clinical outcomes and patient-matched molecular composition of relapsed medullo...
Kumar, Rahul; Smith, Kyle S.; Deng, Maximilian; Terhune, Colt; Robinson, Giles W; Orr, Brent A.; Liu, Anthony P. Y.; Lin, Tong; Billups, Catherine A.Purpose: We sought to investigate clinical outcomes of relapsed medulloblastoma and to compare molecular features between patient-matched diagnostic and relapsed tumors. Methods: Children and infants enrolled on either SJMB03 (NCT00085202) or SJYC07 (NCT00602667) trials who experienced medulloblastoma relapse were analyzed for clinical outcomes, including anatomic and temporal patterns of relapse and postrelaps...
Dual role of allele-specific DNA hypermethylation within the TERT promoter in c...
Lee, Donghyun D.; Komosa, Martin; Sudhaman, Sumedha; Leão, Ricardo; Zhang, Cindy H.; Apolonio, Joana D.; Hermanns, Thomas; Wild, Peter J.Aberrant activation of telomerase in human cancer is achieved by various alterations within the TERT promoter, including cancer-specific DNA hypermethylation of the TERT hypermethylated oncological region (THOR). However, the impact of allele-specific DNA methylation within the TERT promoter on gene transcription remains incompletely understood. Using allele-specific next-generation sequencing, we screened a la...
Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas
Guerreiro Stucklin, Ana S.; Ryall, Scott; Fukuoka, Kohei; Zapotocky, Michal; Lassaletta, Alvaro; Li, Christopher; Bridge, Taylor; Kim, ByungjinInfant gliomas have paradoxical clinical behavior compared to those in children and adults: low-grade tumors have a higher mortality rate, while high-grade tumors have a better outcome. However, we have little understanding of their biology and therefore cannot explain this behavior nor what constitutes optimal clinical management. Here we report a comprehensive genetic analysis of an international cohort of cl...
Combined genetic and epigenetic alterations of the TERT promoter affect clinica...
Leão, Ricardo; Lee, Donghyun; Figueiredo, Arnaldo; Hermanns, Thomas; Wild, Peter; Komosa, Martin; Lau, Irene; Mistry, Mathew; Nunes, Nuno MiguelIn urothelial bladder cancer (UBC), risk stratification remains an important unmet need. Limitless self-renewal, governed by TERT expression and telomerase activation, is crucial for cancer progression. Thus, telomerase activation through the interplay of mutations (TERTpMut ) and epigenetic alterations in the TERT promoter may provide further insight into UBC behavior. Here, we investigated the combined effect...
Mechanisms of human telomerase reverse transcriptase (hTERT) regulation: clinic...
Leão, Ricardo; Apolónio, Joana Dias; Lee, Donghyun; Figueiredo, Arnaldo; Tabori, Uri; Castelo Branco, PedroBackground: Limitless self-renewal is one of the hallmarks of cancer and is attained by telomere maintenance, essentially through telomerase (hTERT) activation. Transcriptional regulation of hTERT is believed to play a major role in telomerase activation in human cancers. Main body: The dominant interest in telomerase results from its role in cancer. The role of telomeres and telomere maintenance mechanisms is ...
Mechanisms of human telomerase reverse transcriptase (hTERT) regulation: clinic...
Leão, Ricardo; Apolónio, Joana; Lee, Donghyun; Figueiredo, Arnaldo; Tabori, Uri; Castelo-Branco, PedroBackground Limitless self-renewal is one of the hallmarks of cancer and is attained by telomere maintenance, essentially through telomerase (hTERT) activation. Transcriptional regulation of hTERT is believed to play a major role in telomerase activation in human cancers. Main body The dominant interest in telomerase results from its role in cancer. The role of telomeres and telomere maintenance mechanisms is we...