Nouveautés en pathologie thyroïdienne : classification OMS 2022, système Bethesda 2023, biologie moléculaire et testing moléculaire DOI
Mohamed Amine Bani, Sophie Moog, Voïchita Suciu

et al.

Bulletin du Cancer, Journal Year: 2024, Volume and Issue: 111(10), P. 10S5 - 10S18

Published: Oct. 1, 2024

Language: Английский

Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma DOI Creative Commons
Chun‐Nan Yeh, Shu‐Fu Lin, Chia‐Ling Wu

et al.

npj Precision Oncology, Journal Year: 2025, Volume and Issue: 9(1)

Published: Jan. 14, 2025

Anaplastic thyroid carcinoma (ATC) is an aggressive cancer that requirements rapid diagnosis and multimodal treatment. Next-generation sequencing (NGS) aids in personalized therapies improved trial enrollment. The role of liquid-based NGS ATC remains unclear. This study analyzed samples using tissue-based NGS, or both platforms. Genetic alterations showed highly heterogeneity, including mutations RAS/RAF/MEK/ERK, PI3K/AKT/mTOR, cell cycle regulation, other receptor tyrosine kinases, DNA damage response, mismatch repair, chromatin remodeling. TP53 (65.4%) BRAF (30.8%) were the most frequently mutated genes tissue NGS. In paired samples, concordance rates 69.2% for 84.6% BRAF. One two patients treated with dabrafenib trametinib a copy number gain post-treatment potentially indicating resistance. Liquid biopsy provides valuable supplementary information when are insufficient. Further studies necessary to understand resistance mechanisms develop strategies overcome them BRAF-targeted therapy.

Language: Английский

Citations

0
Circulating Biomarkers of Thyroid Cancer: An Appraisal DOI Open Access
Marta Codrich,

Alessia Biasotto,

Federica DˈAurizio

et al.

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(5), P. 1582 - 1582

Published: Feb. 26, 2025

Thyroid cancer is the most prevalent endocrine cancer. The prognosis depends on type and stage at diagnosis. treatments involve surgery, possibly followed by additional therapeutic options such as hormone therapy, radiation targeted therapy chemotherapy. Besides well-known thyroid tumor biomarkers, new circulating biomarkers are now emerging. Advances in genomic, transcriptomic proteomic technologies have allowed development of novel biomarkers. This review explores current literature data to critically analyze benefits limitations routinely measured for diagnosis monitoring also sheds light focusing challenges their use clinical management cancer, underlining need identification a generation

Language: Английский

Citations

0
Conventional and Emerging Diagnostic Approaches for Differentiated Thyroid Carcinoma DOI Creative Commons
Kathelina Kristollari, Abraham Abbey Paul,

Sagi Angel

et al.

Chemosensors, Journal Year: 2024, Volume and Issue: 12(11), P. 229 - 229

Published: Nov. 1, 2024

Differentiated thyroid carcinoma (DTC) is among the most prevalent endocrine cancers. The diagnosis of DTC has witnessed tremendous progress in terms technological advancement and clinical operational guidelines. diagnostics have evolved significantly over centuries, from early examinations to modern molecular testing imaging modalities. management are currently dependent on international histological classification identification specific genetic abnormalities tumor tissue, as well prognostic implications that can inform treatment decisions. This study goes down memory lanes various diagnostic methods for DTCs, highlighting recent advancements point-of-care (POC) technology. Beginning with conventional like fine needle aspiration biopsy (FNAB), cytology (FNAC), ultrasound (US) moving contemporary innovative approaches such POC-thyroglobulin (POC-Tg) liquid biopsy, this review showcases current trends diagnostics. Although considerable been achieved malignancy detection, patient stratification, prognosis, personalized treatment, there a need refine mainstay procedures. Finally, future perspectives were provided, emerging roles artificial intelligence explored.

Language: Английский

Citations

2
The Role of ctDNA and Liquid Biopsy in the Diagnosis and Monitoring of Head and Neck Cancer: Towards Precision Medicine DOI Open Access

Sami I. Nassar,

Amber Suk,

Shaun A. Nguyen

et al.

Published: Aug. 21, 2024

Recent data has shown a continued rise in the worldwide annual incidence and mortality rates of head neck cancers. The present standard for diagnosis monitoring disease recurrence or progression involves clinical examination, imaging, invasive biopsy techniques lesions suspected being malignant. In addition to limitations relating cost, time, patient discomfort, these methodologies have inherent inaccuracies detecting recurrence. view limitations, analysis bodily fluid samples via liquid proposes cost-effective convenient alternative, which provides insight on biogenetic biomolecular underpinnings oncologic processes. Liquid biopsy’s biomarkers cancer, including circulating tumor DNA, cells, cell-free RNA, utility screening, diagnosis, prognostication, patients with various forms cancer. review will provide an update current literature examining use cancer care applicability potential biomarkers, focus viral non-viral DNA. Possible future avenues research address specific shortcomings be discussed.

Language: Английский

Citations

1
The Role of ctDNA and Liquid Biopsy in the Diagnosis and Monitoring of Head and Neck Cancer: Towards Precision Medicine DOI Open Access

Sami I. Nassar,

Amber Suk,

Shaun A. Nguyen

et al.

Cancers, Journal Year: 2024, Volume and Issue: 16(18), P. 3129 - 3129

Published: Sept. 11, 2024

Recent data have shown a continued rise in the worldwide annual incidence and mortality rates of head neck cancers. The present standard for diagnosis monitoring disease recurrence or progression involves clinical examination, imaging, invasive biopsy techniques lesions suspected being malignant. In addition to limitations relating cost, time, patient discomfort, these methodologies inherent inaccuracies detecting recurrence. view limitations, analysis bodily fluid samples via liquid proposes cost-effective convenient alternative, which provides insight on biogenetic biomolecular underpinnings oncologic processes. biomarkers cancer biopsy, including circulating tumor DNA, cells, cell-free RNA, has utility screening, diagnosis, prognostication, patients with various forms cancer. review will provide an update current literature examining use care applicability potential biomarkers, focus viral non-viral DNA. Possible future avenues research address specific shortcomings be discussed.

Language: Английский

Citations

1
Detection of the BRAFV600E Mutation in Circulating Free Nucleic Acids as a Biomarker of Thyroid Cancer: A Review DOI Open Access
Emilia Niedziela, Łukasz Niedziela, Aldona Kowalska

et al.

Journal of Clinical Medicine, Journal Year: 2024, Volume and Issue: 13(18), P. 5396 - 5396

Published: Sept. 12, 2024

: Liquid biopsy is a method that could potentially improve the management of thyroid cancer (TC) by enabling detection circulating tumor DNA and RNA (ctDNA, ctRNA). The

Language: Английский

Citations

1
Minor role of TP53 and TERT promoter mutations in medullary thyroid carcinoma: report of new cases and revision of the literature DOI

Roberta Casalini,

Cristina Romei, Raffaele Ciampi

et al.

Endocrine, Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 23, 2024

Language: Английский

Citations

0
Genomic landscape characterization and comparative analysis of tissue and liquid-based next-generation sequencing in anaplastic thyroid carcinoma in Taiwan DOI Creative Commons
Chiao‐En Wu, Chun‐Nan Yeh, Shu‐Fu Lin

et al.

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 16, 2024

Abstract Anaplastic thyroid carcinoma (ATC) is an aggressive disease that requires prompt diagnosis and multimodal treatment. Recent advancements in targeted therapies have offered new treatment options for patients with ATC, potentially improving their clinical outcomes. Ongoing progress high-throughput next-generation sequencing (NGS) has enabled clinicians to comprehensively characterize the genomic landscape of tumors, guide decisions, facilitate trial enrollment. The role liquid NGS ATC remains unclear, particularly cases where tissue not feasible or yields inadequate results. This study assessed treated at Chang Gung Memorial Hospital, Linkou, between 2011 2023. Among these, 26 had adequate commercially available (ACTOnco®+, 440 genes), 15 access a platform (ACTMonitor®+, 50 13 underwent both NGS. genetic alterations observed exhibited high degree heterogeneity, involving several pathways, including RAS/RAF/MEK/ERK (73.1%), PI3K/AKT/mTOR (57.7%), cell cycle regulation (92.3%), other receptor tyrosine kinases (65.4%), DNA damage response (50.0%), mismatch repair (MMR, 34.6%, MLH1, MSH6, MSH2, PMS1), chromatin remodeling (76.9%). most frequently mutated genes were TP53 (17/26, 65.4%) BRAF (8/26, 30.8%). pairs analyzed on platforms, concordance rates 84.6% 69.2% TP53, respectively. two without sufficient NGS, provided additional information alterations. Two dabrafenib trametinib treatment-naïve post-treatment samples but only one patient (two samples; ATC01 after) showed copy number gain over genes, which may be associated resistance. whether applied samples, can empower identify targetable oncogenic events ATC. Liquid biopsy provides supplementary when insufficient Additional studies are needed understand resistance mechanisms BRAF-targeted therapy explore strategies overcome

Language: Английский

Citations

0
Nouveautés en pathologie thyroïdienne : classification OMS 2022, système Bethesda 2023, biologie moléculaire et testing moléculaire DOI
Mohamed Amine Bani, Sophie Moog, Voïchita Suciu

et al.

Bulletin du Cancer, Journal Year: 2024, Volume and Issue: 111(10), P. 10S5 - 10S18

Published: Oct. 1, 2024

Language: Английский

Citations

0