Molecular Testing of Thyroid Fine-Needle Aspiration: Local Issues and Solutions. An Interventional Cytopathologist Perspective

Bellevicine, Claudio; Sgariglia, Roberta; Nacchio, Mariantonia; Luca, Caterina De; Pisapia, Pasquale; Pepe, Francesco; Troncone, Giancarlo

doi:10.3390/jmp2030020

Cited by 3 publications

(2 citation statements)

References 47 publications

(62 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The clinical usefulness and cost-effectiveness of molecular diagnostic tests are dependent on the upstream and downstream diagnostic pathway and healthcare settings. A molecular test is only as good as the diagnostic pathway it is embedded within; a highquality molecular diagnostic test depends on ultrasound and cytology malignancy risk stratification, among other clinical factors, to be properly assessed for the benefit of molecular testing to be maximized (24,56). Guidelines-…”

Section: Discussionmentioning

confidence: 99%

“…Finally, high prices at more than $3000 USD per molecular FNA analysis and the required extra dedicated FNA samples for molecular testing are considerable barriers to adoption under a single payer or European healthcare system (46,56). Studies of cost-effectiveness have generated mixed results, depending on the assumptions (67,68,69,70,71,72,73,74).…”

Section: Limitations Of Molecular Testingmentioning

confidence: 99%

See 1 more Smart Citation

DIAGNOSIS OF ENDOCRINE DISEASE: Usefulness of genetic testing of fine-needle aspirations for diagnosis of thyroid cancer

Stewardson

Eszlinger

Paschke

2022

European Journal of Endocrinology

View full text Add to dashboard Cite

Objective Genetic testing is increasingly used to diagnose or rule out thyroid cancer in indeterminate fine needle aspirations, this review evaluates the usefulness of these methods with considerations of advantages and limitations. Design Given the diagnostic problem associated with the increasing incidental detection of indeterminate thyroid nodules in the context of thyroid cancer overtreatment, we consider the conditions and respective necessary settings for the role of genetic testing to improve pre-surgical malignancy risk stratification. Methods We review diagnostic pathway requirements and commercially available molecular tests with their respective advantages and disadvantages, and discuss the pre-requisites required for local application and implementation including quality assurance for local ultrasound and cytopathology practices. Results Recent improvements in available molecular diagnostic tests have brought high sensitivity and specificity in initial validation studies, but whether these promising results translate to other clinical settings depends on the quality of the local thyroid nodule diagnostic pathway. Conclusions Genetic testing can meaningfully improve pre-surgical malignancy risk assessment, but more work is needed to implement and use genetic testing effectively in local settings.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Limitations Of Molecular Testingmentioning

confidence: 99%

DIAGNOSIS OF ENDOCRINE DISEASE: Usefulness of genetic testing of fine-needle aspirations for diagnosis of thyroid cancer

Stewardson

Eszlinger

Paschke

2022

European Journal of Endocrinology

View full text Add to dashboard Cite

show abstract

The evolving role of interventional cytopathology from thyroid FNA to NGS: Lessons learned at Federico II University of Naples

Vigliar,

Carillo,

Nacchio

et al. 2024

Cytopathology

View full text Add to dashboard Cite

Fine‐needle aspiration (FNA) guided by ultrasound (US) has emerged as a highly precise diagnostic method for managing thyroid nodules, significantly diminishing unnecessary surgeries. The effectiveness of US‐guided FNA is high when a single specialist performs the FNA procedure and the microscopy. This paradigm has paved the way for the evolution of interventional cytopathology, a specialist with a pivotal role in the preoperative diagnostic process, encompassing patient history review, clinical examination, FNA execution under US guidance, preparation, and microscopic interpretation of cytological samples. As the landscape of precision medicine unfolds, molecular testing assumes greater importance in thyroid cytopathology, particularly in refining the risk of malignancy for indeterminate nodules. The updated Bethesda classification system underscores the clinical significance of molecular tests, emphasizing their role in refining diagnostic accuracy. With this evolving landscape, interventional cytopathologists must adapt by acquiring expertise in molecular technologies and addressing ongoing challenges in workflow harmonization and optimization. This paper delves into our decade‐long experience as interventional cytopathologists, focusing on recent endeavours to ensure adequate samples not only for microscopic diagnosis but also for molecular testing. Additionally, here we review the challenges of integrating next‐generation sequencing (NGS) technology into clinical practice, highlighting the importance of integrating clinically meaningful molecular data into comprehensive molecular cytology reports.

show abstract

Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0

et al. 2022

View full text Add to dashboard Cite

Next-Generation Sequencing allows for quick and precise sequencing of multiple genes concurrently. Recently, this technology has been employed for the identification of novel gene mutations responsible for disease manifestation among breast cancer (BC) patients, the most common type of cancer amongst Arabian women, and the major cause of disease-associated death in women worldwide. Genomic DNA was extracted from the peripheral blood of 32 Saudi Arabian BC patients with histologically confirmed invasive BC stages I-III and IV, as well from 32 healthy Saudi Arabian women using a QIAamp ® DNA Mini Kit. The isolated DNA was quantified using a Qubit™ dsDNA BR Assay Kit with a Qubit 2.0 Fluorometer. Ion semiconductor sequencing technology with an Ion S5 System and AmpliSeq™ Cancer Hotspot Panel v2 were utilized to analyze ~2,800 mutations described in the Catalogue of Somatic Mutations in Cancer from 50 oncogenes and tumor suppressor genes. Ion Reporter Software v.5.6 was used to evaluate the genomic alterations in all the samples after alignment to the hg19 human reference genome. The results showed that out of the 50 genes, 26 mutations, including 17 (65%) missense point mutations (single nucleotide variants), and 9 (35%) frameshift (insertion/deletion) mutations, were identified in 11 genes across the cohort in 61 samples (95%). Mutations were predominantly focused on two genes, PIK3CA and TP53, in the BC genomes of the sample set. PIK3CA mutation, c.1173A>G located in exon 9, was identified in 15 patients (46.9%). The TP53 mutations detected were a missense mutation (c.215C>G) in 26 patients (86.70%) and 1 frameshift mutation (c.215_216insG) in 1 patient (3.33%), located within exon 3 and 5, respectively. This study revealed specific mutation profiles for every BC patient, Thus, the results showed that Ion Torrent DNA Sequencing technology may be a possible diagnostic and prognostic method for developing personalized therapy based on the patient's individual BC genome.

show abstract

Molecular Testing of Thyroid Fine-Needle Aspiration: Local Issues and Solutions. An Interventional Cytopathologist Perspective

Cited by 3 publications

References 47 publications

DIAGNOSIS OF ENDOCRINE DISEASE: Usefulness of genetic testing of fine-needle aspirations for diagnosis of thyroid cancer

DIAGNOSIS OF ENDOCRINE DISEASE: Usefulness of genetic testing of fine-needle aspirations for diagnosis of thyroid cancer

The evolving role of interventional cytopathology from thyroid FNA to NGS: Lessons learned at Federico II University of Naples

Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0

Contact Info

Product

Resources

About