Ultrasensitive detection of BRAF V600E mutations in circulating tumor DNA of patients with metastatic thyroid cancer

Gouda, Mohamed A.; Ong, Emily; Huang, Helen J.; McPhaul, Laron; Yoon, Steve; Janků, Filip; Gianoukakis, Andrew G.

doi:10.1007/s12020-022-03004-z

Cited by 9 publications

(7 citation statements)

References 20 publications

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“…Among these are sequencing-based and PCR-based methods as well as immunohistochemistry (IHC) [ 102 , 103 ]. Additionally, the onset of liquid biopsy testing technologies has allowed for minimally invasive genetic testing, giving the opportunity to evaluate clonal evolution as well as resistance mechanisms through the course of treatment [ 37 , 104 , 105 , 106 , 107 ]. The shift from genotyping focused on few genes with sequential testing through single-gene assays to next-generation sequencing (NGS), which scans a larger set of genes, has allowed for the detection of previously undiscovered alterations as well as increasing the likelihood of detecting rare alterations [ 74 ].…”

Section: Diagnostic Approaches For Braf Mutationsmentioning

confidence: 99%

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Mutations in the Serine/Threonine Kinase BRAF: Oncogenic Drivers in Solid Tumors

Roa,

Bremer,

Foglizzo

et al. 2024

Cancers

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Since their discovery in 2002, BRAF mutations have been identified as clear drivers of oncogenesis in several cancer types. Currently, their incidence rate is nearly 7% of all solid tumors with BRAF V600E constituting approximately 90% of these diagnoses. In melanoma, thyroid cancer, and histiocytic neoplasms, BRAF hotspot mutations are found at a rate of about 50%, while in lung and colorectal cancers they range from 3% to 10% of reported cases. Though present in other malignancies such as breast and ovarian cancers, they constitute a small portion of diagnoses (<1%). Given their frequency along with advancements in screening technologies, various methods are used for the detection of BRAF-mutant cancers. Among these are targeted next-generation sequencing (NGS) on tumor tissue or circulating tumor DNA (ctDNA) and immunohistochemistry (IHC)-based assays. With advancements in detection technologies, several approaches to the treatment of BRAF-mutant cancers have been taken. In this review, we retrace the milestones that led to the clinical development of targeted therapies currently available for these tumors.

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Section: Diagnostic Approaches For Braf Mutationsmentioning

confidence: 99%

“…A key issue with BRAF inhibitor monotherapy is that it can sometimes lead to increased activation of MEK and ERK, which are downstream of BRAF in the MAPK pathway [ 104 ]. This can reduce the efficacy of treatments and even cause secondary skin cancers to occur in some patients [ 138 ].…”

Section: Targeted Therapies For Braf-mutant Cancersmentioning

confidence: 99%

Mutations in the Serine/Threonine Kinase BRAF: Oncogenic Drivers in Solid Tumors

Roa,

Bremer,

Foglizzo

et al. 2024

Cancers

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“…This offers a minimally invasive tool for genetic assessment that can expand beyond baseline testing of targetability to evaluation of clonal evolution and emerging resistance mechanisms over time. 12 , 13 , 14 , 15 , 16 …”

Section: Detection Of Braf Mutationsmentioning

confidence: 99%

Precision oncology for BRAF-mutant cancers with BRAF and MEK inhibitors: from melanoma to tissue-agnostic therapy

Gouda¹,

Subbiah²

2023

ESMO Open

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“…ctDNA in PTC, MTC, and ATC Among the 22 studies, 17 aimed to detect ctDNA in PTC patients (Table 2) (Chuang et al 2010, Kwak et al 2013, Pupilli et al 2013, Zane et al 2013, Kim et al 2015, Lubitz et al 2016, Allin et al 2018, Condello et al 2018, Lubitz et al 2018, Almubarak et al 2019, Li et al 2019, Jensen et al 2020, Khatami et al 2020, Lan et al 2020, Patel et al 2021, Sato et al 2021, Gouda et al 2022. Fourteen of these studies found the presence of BRAFV600E in plasma of PTC patients with varying detection rate (Chuang et al 2010, Pupilli et al 2013, Kim et al 2015, Lubitz et al 2016, Allin et al 2018, Lubitz et al 2018, Almubarak et al 2019, Li et al 2019, Jensen et al 2020, Khatami et al 2020, Lan et al 2020, Patel et al 2021, Sato et al 2021, Gouda et al 2022. Fourteen studies compared BRAFV600E mutation in primary tumor tissue to ctDNA (Chuang et al 2010 Pupilli et al 2013, Zane et al 2013, Kim et al 2015, Lubitz et al 2016, Condello et al 2018, Almubarak et al 2019…”

Section: Ctdna and Cfdimentioning

confidence: 99%

Liquid biopsies in thyroid cancers: a systematic review and meta-analysis

Zeyghami,

Hansen,

Jakobsen

et al. 2023

Endocrine-Related Cancer

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Thyroid cancer (TC) represents the most common endocrine malignant tumor. Liquid biopsy has been suggested as a new and accurate biomarker in cancer. This systematic review analyzes the existing literature on circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), cell-free DNA integrity index (cfDI), and their potential as biomarkers for TC, including the subtypes: differentiated (papillary and follicular), medullary and anaplastic. A systematic search was performed in Pubmed, Embase, and Cochrane databases for published articles in English between January 1st 1970 and September 6th 2022 (PROSPERO: CRD42022358592). The literature search generated a total of 635 articles. In total, 36 articles were included (patients = 2566). Four studies reported that higher levels of CTCs were associated with metastases and worse prognosis. Nineteen studies found the presence of mutated ctDNA in TC patients. The diagnostic accuracy in detecting BRAFV600E as ctDNA was determined in eleven studies regarding papillary thyroid cancer. The pooled sensitivity, specificity, and diagnostic odds ratio were estimated at 56% (95 % CI 36-74), 91 % (95 % CI 84-95) and 12 (CI 95 % 4.09-33.11), respectively. Four studies concluded that the cfDI was higher in patients with TC compared to benign thyroid lesions and healthy controls. The detection of CTCs, ctDNA, and cfDI may have a potential prognostic value in TC in relation to diagnosis, disease progression, and treatment efficacy. Despite the promising potential of CTCs, ctDNA, and cfDI in TC management, limitations hinder direct comparison and generalization of findings. Standardized methodologies, larger patient cohorts, and a consensus on relevant markers are needed to validate their clinical applicability and enhance TC manageme

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Ultrasensitive detection of BRAF V600E mutations in circulating tumor DNA of patients with metastatic thyroid cancer

Cited by 9 publications

References 20 publications

Mutations in the Serine/Threonine Kinase BRAF: Oncogenic Drivers in Solid Tumors

Mutations in the Serine/Threonine Kinase BRAF: Oncogenic Drivers in Solid Tumors

Precision oncology for BRAF-mutant cancers with BRAF and MEK inhibitors: from melanoma to tissue-agnostic therapy

Liquid biopsies in thyroid cancers: a systematic review and meta-analysis

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