161 results match your criteria c228t mutations


Coexistence of TERT C228T mutation and MALAT1 dysregulation in primary glioblastoma: new prognostic and therapeutic targets.

Neurol Res 2021 Jul 1:1-10. Epub 2021 Jul 1.

Department of Pathology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.

: This study was designed to conduct molecular classification based on , and changes in pediatric and adult primary glioblastoma (GB) and to analyze the potential interaction of LncRNA MALAT1 in the determined homogeneous subgroups. We analyzed the expression profiles of and MALAT1 using the qRT-PCR method and and mutation status using DNA sequencing analysis in 85 primary pediatric and adult GB patients. mutation was observed in 5 (5. Read More

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TERT and its binding protein: overexpression of GABPA/B in high grade gliomas.

Oncotarget 2021 Jun 22;12(13):1271-1280. Epub 2021 Jun 22.

Laboratory of Neurooncology and Experimental Neurosurgery, Department of General Neurosurgery, Center for Neurosurgery, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.

Enhanced expression of TERT in gliomas is a result of two hotspot mutations, C228T and C250T, at the promoter region. GA-binding proteins selectively bind at these positions, respectively, causing an activation of the promoter and overexpression of TERT. GABP is a multimeric protein consisting of GABPA and GABPB with its isoforms GABPB1, GABPB1-L, GABPB1-S, GABPB2. Read More

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Hyperfunctioning Papillary Thyroid Carcinoma with a Mutation: The First Case Report and a Literature Review.

Eur Thyroid J 2021 Jun 5;10(3):262-267. Epub 2021 Mar 5.

Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Shizuoka, Japan.

Introduction: Hyperfunctioning papillary thyroid carcinoma (PTC) is rare and consequently, little information on its molecular etiology is available. Although V600E ( c.1799T>A, p. Read More

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Droplet digital PCR assay for detecting TERT promoter mutations in patients with glioma.

Brain Tumor Pathol 2021 Jun 14. Epub 2021 Jun 14.

Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, 1397-1, Yamane, Hidaka, Saitama, 350-1298, Japan.

Two hot spot mutations (C228T, C250T) in the telomerase reverse transcriptase (TERT) gene are frequently identified in glioblastoma and oligodendroglioma. TERT mutations predicts an aggressive clinical course in isocitrate dehydrogenase (IDH) wild-type astrocytic tumors. Therefore, it is important to accurately detect TERT promoter mutations in glioma. Read More

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FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring.

Gynecol Oncol 2021 Jun 1. Epub 2021 Jun 1.

Department of Gynecologic Oncology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

Objective: Adult granulosa cell tumors (aGCTs) represent a rare, hormonally active subtype of ovarian cancer that has a tendency to relapse late and repeatedly. Current serum hormone markers are inaccurate in reflecting tumor burden in a subset of aGCT patients, indicating the need for a novel biomarker. We investigated the presence of circulating tumor DNA (ctDNA) harboring a FOXL2 or TERT promoter mutation in serial plasma samples of aGCT patients to determine its clinical value for monitoring disease. Read More

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Prospective Analysis of Promoter Mutations in Papillary Thyroid Carcinoma at a Single Institution.

J Clin Med 2021 May 18;10(10). Epub 2021 May 18.

Department of Surgery, Inha University Hospital & College of Medicine, Inchoen 22332, Korea.

Background: Papillary thyroid cancer (PTC) has the highest cancer incidence in Korea. It is known that some thyroid cancers have aggressive clinical behavior and a poor prognosis. Genomic studies have described some somatic mutations that are related to the aggressive features of thyroid cancer, such as the mutation. Read More

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Clinical, Histological, and Molecular Features of Solitary Fibrous Tumor of Bone: A Single Institution Retrospective Review.

Cancers (Basel) 2021 May 19;13(10). Epub 2021 May 19.

Department of Pathology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.

Primary solitary fibrous tumor (SFT) of the bone is extremely rare, with only few cases reported in the literature. We retrieved all cases of primary SFT of the bone treated at our institution and we assessed the morphology and the immunohistochemical and molecular features to investigate the clinical outcome of primary SFT of the bone and any clinical relevance of clinical and histological criteria of aggressiveness currently adopted for the soft tissues counterpart. Morphologically, 15 cases evidenced high cellularity, cytologic atypia, and foci of necrosis and were associated with more than 4 mitotic figures/10 HPF. Read More

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A retrospective analysis of the risk factors affecting recurrence time in patients with recurrent glioblastoma.

Ann Palliat Med 2021 May 12;10(5):5391-5399. Epub 2021 May 12.

Department of Nuclear Accident Medical Emergency, the Second Affiliated Hospital of Soochow University, Suzhou, China; State Key Laboratory of Radiation Medicine and Protection, School of Radiation Medicine and Protection, Soochow University, Suzhou, China.

Background: This study explored the related factors that influence the recurrence time of glioblastomas (GBM).

Methods: A retrospective study of recurrent GBM patients with surgical resection was performed. Recurrence time was analyzed using Kaplan-Meier survival curves. Read More

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TERT-Promoter Mutational Status in Glioblastoma - Is There an Association With Amino Acid Uptake on Dynamic F-FET PET?

Front Oncol 2021 27;11:645316. Epub 2021 Apr 27.

Department of Nuclear Medicine, University Hospital, LMU Munich, Munich, Germany.

Objective: The mutation of the 'telomerase reverse transcriptase gene promoter' (TERTp) has been identified as an important factor for individual prognostication and tumorigenesis and will be implemented in upcoming glioma classifications. Uptake characteristics on dynamic F-FET PET have been shown to serve as additional imaging biomarker for prognosis. However, data on the correlation of TERTp-mutational status and amino acid uptake on dynamic F-FET PET are missing. Read More

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Detection of oncogenic mutations in paired circulating tumor DNA and circulating tumor cells in patients with hepatocellular carcinoma.

Transl Oncol 2021 Jul 26;14(7):101073. Epub 2021 Apr 26.

Departments of Gastroenterology and Hepatology, Erasmus MC-University Medical Center, Wytemaweg 80, Rotterdam 3015 CN, The Netherlands. Electronic address:

Background And Aims: Circulating tumor cells (CTCs) or circulating tumor DNA (ctDNA) may be used for diagnostic or prognostic purposes in patients with hepatocellular carcinoma (HCC). We aim to determine whether CTCs or ctDNA are suitable to determine oncogenic mutations in HCC patients.

Methods: Twenty-six mostly advanced HCC patients were enrolled. Read More

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Distinct TERT promoter C228T and C250T mutations in a patient with an oligodendroglioma: A case report.

Neuropathology 2021 Jun 26;41(3):236-242. Epub 2021 Apr 26.

Department of Neurosurgery, Hokkaido University School of Medicine, Sapporo, Japan.

The majority of oligodendroglial tumors harbor mutations in the telomerase reverse transcriptase (TERT) gene (TERT) promoter and the isocitrate dehydrogenase 1/2 (IDH1/2) gene (IDH1/2), as well as 1p/19q codeletion. Generally, TERT promoter mutations, C250T and C228T, are mutually exclusive. We present a case of oligodendroglioma harboring both C250T and C228T mutations in TERT promoter. Read More

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Diagnostic roles of proliferative markers in pathological Grade of T1 Urothelial Bladder Cancer.

J Cancer 2021 5;12(9):2498-2506. Epub 2021 Mar 5.

Department of Pathology, Guangxi Medical University Cancer Hospital, Nanning 530021, Guangxi Zhuang Autonomous Region, China.

The stage T1 urothelial bladder cancer (T1 UBC) tumor grade classification is important for prognosis and clinical management. However, the reproducibility of this two-grade classification system is limited in regards to pathological diagnosis, and there is lack of ideal, objective and easily detected markers for pathological diagnosis. In our study, bladder urothelial lesions from a total of 124 patients diagnosed pathologically after transurethral resection of the bladder tumor (TURBT) were collected, including non-cancerous lesions from 33 patients and lesions from 91 T1 UBC patients. Read More

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Case Report: Anlotinib Therapy in a Patient With Recurrent and Metastatic RAIR-DTC Harboring Coexistent TERT Promoter and BRAF Mutations.

Front Oncol 2021 24;11:626076. Epub 2021 Mar 24.

Department of Thyroid Surgery, The First Affiliated Hospital of Kunming Medical University, Kunming, China.

We describe a case of recurrent and metastatic radioactive iodine-refractory differentiated thyroid cancer (RAIR-DTC) treated with anlotinib in this report. The patient was randomized to placebo initially, after disease progressed at C8 (C is the treatment cycle), the patient was referred to the open label therapy of anlotinib, 12 mg p.o. Read More

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Advances in Detecting Low Prevalence Somatic Promoter Mutations in Papillary Thyroid Carcinoma.

Front Endocrinol (Lausanne) 2021 12;12:643151. Epub 2021 Mar 12.

Genetic Bases of Thyroid Tumors Laboratory, Department of Morphology and Genetics, Division of Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

Background: Two recurrent (telomerase reverse transcriptase) promoter mutations, C228T and C250T, have been reported in thyroid carcinomas and were correlated with high-risk clinicopathological features and a worse prognosis. Although far more frequent in the poorly differentiated and undifferentiated thyroid cancer, the promoter mutations play a significant role on PTC recurrence and disease-specific mortality. However, the prevalence varies considerably through studies and it is uncertain if these differences are due to population variation or the methodology used to detect mutations. Read More

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TERT promoter mutation in sebaceous neoplasms.

Virchows Arch 2021 Mar 25. Epub 2021 Mar 25.

Department of Pathology, Medical School, Universidad Complutense, Instituto i+12, Hospital Universitario 12 de Octubre, CIBERONC, Madrid, Spain.

TERT promoter (TERTp) mutations widely occur in multiple human neoplasms, and they have been related to different clinicopathological features. To date, this mutation has not been identified in sebaceous tumors. Here, we analyzed TERTp mutations in 91 sebaceous neoplasms (17 adenomas, 45 sebaceomas, and 29 carcinomas). Read More

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Do Molecular Profiles of Primary Metastatic Radioiodine Refractory Differentiated Thyroid Cancer Differ?

Front Endocrinol (Lausanne) 2021 25;12:623182. Epub 2021 Feb 25.

Section of Endocrinology, MedStar Washington Hospital Center, Washington, DC, United States.

Management of metastatic radioiodine refractory differentiated thyroid cancer (DTC) can be a therapeutic challenge. Generally, little is known about the paired molecular profile of the primary tumor and the metastases and whether they harbor the same genetic abnormalities. The present study compared the molecular profile of paired tumor specimens (primary tumor/metastatic sites) from patients with radioiodine refractory DTC in order to gain insight into a possible basis for resistance to radioiodine. Read More

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February 2021

Giant congenital nodular melanoma in a newborn: a case report and literature review.

BMC Pediatr 2021 03 11;21(1):121. Epub 2021 Mar 11.

Department of Pathology, Kunming Children's Hospital, 288 Qianxing Road, Yunnan, 650028, Kunming, China.

Background: Malignant melanoma (MM) arises predominantly after adolescence and is uncommon in children. Congenital MM in newborns is even rarer with a dearth of published literature; as a consequence, there is no uniform standard for the pathogenesis and treatment for neonatal malignant melanoma. Herein we report a case of giant congenital nodular MM in a newborn, including its clinical, imaging, pathological and molecular pathological features. Read More

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Promoter Mutation in Adult Glioblastomas: It's Correlation with Other Relevant Molecular Markers.

Neurol India 2021 Jan-Feb;69(1):126-134

Department of Radiation Oncology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Parel, Mumbai, Maharashtra, India.

Background: Telomerase reverse transcriptase promoter (pTERT) mutation is a dominant altered telomere maintenance mechanism in primary glioblastomas (GBMs).

Objective: The aim of this study was to correlate pTERT mutations with clinico-histological features and other molecular markers (p53 protein-expression, ATRX protein-expression, IDH mutations, EGFR gene amplification and MGMT methylation) in adult GBMs.

Materials And Methods: Evaluated for histological patterns, p53 and ATRX protein expression by immunohistochemistry (IHC), IDH mutations by IHC followed by sequencing in IHC negative cases, EGFR gene amplification by fluorescence in situ hybridization, MGMT promoter methylation by methylation-specific PCR and pTERT mutation by sequencing. Read More

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Telomerase reverse transcriptase promoter mutation- and O-methylguanine DNA methyltransferase promoter methylation-mediated sensitivity to temozolomide in isocitrate dehydrogenase-wild-type glioblastoma: is there a link?

Eur J Cancer 2021 Apr 22;147:84-94. Epub 2021 Feb 22.

Institute of Neuropathology, Heinrich Heine University, Medical Faculty, Düsseldorf, Germany; German Cancer Consortium, Partner Site Essen/Düsseldorf, German Cancer Research Center (DKFZ), Heidelberg, Germany. Electronic address:

Aim Of The Study: Benefit from temozolomide (TMZ) chemotherapy in the treatment of isocitrate dehydrogenase (IDH)-wild-type glioblastoma is essentially limited to patients with O-methylguanine DNA methyltransferase (MGMT) promoter-methylated tumours. Recent studies suggested that telomerase reverse transcriptase (TERT) promoter hotspot mutations may have an impact on the prognostic role of the MGMT status in patients with glioblastoma.

Methods: MGMT promoter methylation and TERT promoter mutation status were retrospectively assessed in a prospective cohort of patients with IDH-wild-type glioblastoma of the German Glioma Network (GGN) (n = 298) and an independent retrospective cohort from Düsseldorf, Germany, and Zurich, Switzerland (n = 302). Read More

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Human TERT promoter mutations as a prognostic biomarker in glioma.

J Cancer Res Clin Oncol 2021 Apr 6;147(4):1007-1017. Epub 2021 Feb 6.

Centre for Circulating Tumour Cell Diagnostics and Research, Ingham Institute for Applied Medical Research, 1 Campbell St, Liverpool, NSW, 2170, Australia.

The TERT promoter (pTERT) mutations, C228T and C250T, play a significant role in malignant transformation by telomerase activation, oncogenesis and immortalisation of cells. C228T and C250T are emerging as important biomarkers in many cancers including glioblastoma multiforme (GBM), where the prevalence of these mutations is as high as 80%. Additionally, the rs2853669 single nucleotide polymorphism (SNP) may cooperate with these pTERT mutations in modulating progression and overall survival in GBM. Read More

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Arms-qPCR Improves Detection Sensitivity of Earlier Diagnosis of Papillary Thyroid Cancers With Worse Prognosis Determined by Coexisting BRAF V600E and Tert Promoter Mutations.

Endocr Pract 2021 Jul 27;27(7):698-705. Epub 2021 Jan 27.

Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, People's Republic of China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, People's Republic of China. Electronic address:

Objective: The coexistence of BRAF V600E and the telomerase reverse transcriptase (TERT) promoter mutation C228T/C250T is extensively associated with thyroid cancer prognosis. Our study aimed to establish a sensitive method for mutation detection and explore the correlation in detail.

Methods: The BRAF and TERT promoter mutation status of 250 papillary thyroid cancers was determined using amplification-refractory mutation system quantitative polymerase chain reaction (ARMS-qPCR) and Sanger sequencing to compare the sensitivity of the 2 methods. Read More

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Metastatic-prone telomerase reverse transcriptase (TERT) promoter and v-Raf murine sarcoma viral oncogene homolog B (BRAF) mutated tall cell variant of papillary thyroid carcinoma arising in ectopic thyroid tissue: A case report.

Medicine (Baltimore) 2021 Jan;100(2):e24237

Department of Oncology-Pathology.

Rationale: Mutations of the v-Raf murine sarcoma viral oncogene homolog B (BRAF) oncogene and telomerase reverse transcriptase (TERT) promoter region are indicators of poor prognosis in papillary thyroid carcinoma (PTC) and might predict future occurrences of distant metastases. However, the clinical significance of these genetic aberrancies in PTCs arising in ectopic locations is not well established.

Patient Concerns: We describe a patient with a previous history of radioiodine (RAI)-treated hyperthyroidism and a surgically resected right-sided follicular thyroid adenoma. Read More

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January 2021

Molecular diagnosis of diffuse glioma using a chip-based digital PCR system to analyze IDH, TERT, and H3 mutations in the cerebrospinal fluid.

J Neurooncol 2021 Mar 8;152(1):47-54. Epub 2021 Jan 8.

Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Purpose: Conventional genetic analyzers require surgically obtained tumor tissues to confirm the molecular diagnosis of diffuse glioma. Recent technical breakthroughs have enabled increased utilization of cell-free tumor DNA (ctDNA) in body fluids as a reliable resource for molecular diagnosis in various cancers. Here, we tested the application of a chip-based digital PCR system for the less invasive diagnosis (i. Read More

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Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer.

Diagnostics (Basel) 2020 Dec 22;11(1). Epub 2020 Dec 22.

Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.

(1) Introduction: Telomerase reverse transcriptase (TERT) promoter mutations are associated with unfavorable clinical outcomes in papillary thyroid carcinomas (PTCs). Two substitution mutations, C228T (c.1-124C>T) and C250T (c. Read More

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December 2020

Multiplexed Droplet Digital PCR Assays for the Simultaneous Screening of Major Genetic Alterations in Tumors of the Central Nervous System.

Front Oncol 2020 12;10:579762. Epub 2020 Nov 12.

APHM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France.

The increased integration of molecular alterations to define tumor type or grade in central nervous system (CNS) tumor classification brings new challenges for the pathologist to make the best use of a precious limited tissue specimen for molecular studies. Within the different methods available to identify gene alterations, the droplet digital PCR (dPCR) constitutes a rapid, cost-effective, and very sensitive tool. In this study, we describe the development and validation of five multiplexed dPCR assays to detect major CNS biomarkers by using only small amounts of DNA extracted from formalin-fixed paraffin-embedded specimens. Read More

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November 2020

Development of Sensitive Droplet Digital PCR Assays for Detecting Urinary Promoter Mutations as Non-Invasive Biomarkers for Detection of Urothelial Cancer.

Cancers (Basel) 2020 Nov 27;12(12). Epub 2020 Nov 27.

International Agency for Research on Cancer (IARC), 69372 Lyon, France.

Somatic mutations in the () promoter regions are frequent events in urothelial cancer (UC) and their detection in urine (supernatant cell-free DNA or DNA from exfoliated cells) could serve as putative non-invasive biomarkers for UC detection and monitoring. However, detecting these tumor-borne mutations in urine requires highly sensitive methods, capable of measuring low-level mutations. In this study, we developed sensitive droplet digital PCR (ddPCR) assays for detecting promoter mutations (C228T, C228A, CC242-243TT, and C250T). Read More

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November 2020

Regulatory Single Nucleotide Polymorphism Increases TERT Promoter Activity in Thyroid Carcinoma Cells.

Pathobiology 2020 23;87(6):338-344. Epub 2020 Nov 23.

Department of Pathology, School of Medicine, Kyorin University, Mitaka, Japan,

Background/aim: The telomerase reverse transcriptase (TERT) promoter has a regulatory single nucleotide polymorphism (rSNP), rs2853669, and occasionally shows point mutations C228T and C250T. Although C228T and C250T have been well examined to increase TERT promoter activity and are known as risk factors for thyroid carcinoma, the significance of rs2853669 has not been well investigated. This study aimed to clarify the influence of rs2853669 on TERT promoter activity in thyroid carcinoma cells. Read More

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Spatial Distribution Patterns of Clinically Relevant TERT Promoter Mutations in Follicular Thyroid Tumors of Uncertain Malignant Potential: Advantages of the Digital Droplet PCR Technique.

J Mol Diagn 2021 02 14;23(2):212-222. Epub 2020 Nov 14.

Departments of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Departments of Pathology and Cytology, Karolinska University Hospital, Stockholm, Sweden. Electronic address:

In thyroid carcinomas, telomerase reverse transcriptase (TERT) promoter mutations C228T and C250T predict an unfavorable clinical outcome. The analysis is particularly valuable when assessing histologically equivocal follicular thyroid tumors of uncertain malignant potential (FT-UMPs). Given recent findings of TERT promoter mutational heterogeneity in thyroid cancer, we determined the frequency of this phenomenon in FT-UMPs and minimally invasive follicular thyroid carcinomas. Read More

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February 2021

TERT promoter mutated circulating tumor DNA as a biomarker for prognosis in hepatocellular carcinoma.

Scand J Gastroenterol 2020 Dec 25;55(12):1433-1440. Epub 2020 Oct 25.

Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus N, Denmark.

Background And Aims: Plasma circulating tumor DNA (ctDNA) with tumor-specific mutations is an attractive biomarker. The telomerase reverse transcriptase () C228T promoter mutation is the most prevalent tumor-associated mutation in hepatocellular carcinoma (HCC). We evaluated the presence and prognostic value of the C228T mutation in plasma and tissue in a Danish HCC cohort. Read More

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December 2020

Promoter Mutation Analysis for Blood-Based Diagnosis and Monitoring of Gliomas.

Clin Cancer Res 2021 Jan 13;27(1):169-178. Epub 2020 Oct 13.

Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.

Purpose: Liquid biopsy offers a minimally invasive tool to diagnose and monitor the heterogeneous molecular landscape of tumors over time and therapy. Detection of promoter mutations (, ) in cfDNA has been successful for some systemic cancers but has yet to be demonstrated in gliomas, despite the high prevalence of these mutations in glioma tissue (>60% of all tumors).

Experimental Design: Here, we developed a novel digital droplet PCR (ddPCR) assay that incorporates features to improve sensitivity and allows for the simultaneous detection and longitudinal monitoring of two promoter mutations ( and ) in cfDNA from the plasma of patients with glioma. Read More

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January 2021