The Role of Molecular Testing for the Indeterminate Thyroid FNA

Rossi, Esther Diana; Pantanowitz, Liron; Faquin, William C.

doi:10.3390/genes10100736

Cited by 50 publications

(58 citation statements)

References 113 publications

(235 reference statements)

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“…Therefore, the authors proposed PD-L1 as a useful biomarker for the diagnosis of NIFT-P and the risk of EFVPTC invasiveness 54 . It will be of strong interest to compare the accuracy of PD-L1 to that of ancillary molecular techniques developed for the diagnosis of indeterminate nodules 55 , and to determine whether PD-L1 can overcome their complex clinical interpretation 53 .…”

Section: The Pd-1/pd-l1 Axis In Thyroid Diseasesmentioning

confidence: 99%

From biomarkers to therapeutic targets: the promise of PD-L1 in thyroid autoimmunity and cancer

D’Andréa¹,

Lassalle²,

Guevara³

et al. 2021

Theranostics

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The programmed cell death-1/programmed cell death ligand-1 (PD-1/PD-L1) immune checkpoint proteins hold promise as diagnostic, prognostic, and therapeutic targets for precision oncology. By restoring antitumor T cell surveillance, the high degree of effectiveness of the immune checkpoint inhibitors (ICIs) has revolutionized cancer treatment. However, the majority of patients (65-80 %) treated with ICIs experience significant side effects, called immune-related adverse events (irAEs), resulting in autoimmune damage to various organs. Therefore, broadening the clinical applicability of these treatments to all cancer types requires an improved understanding of the mechanisms linking cancer immune evasion and autoimmunity. The thyroid is the endocrine gland the most frequently involved in autoimmunity and cancer, the growing incidence of which is raising serious public health issues worldwide. In addition, the risk of developing thyroid cancer is increased in patients with autoimmune thyroid disease and thyroid dysfunction is one of the most common irAEs, especially with PD‑1/PD-L1 blockade. Therefore, we chose the thyroid as a model for the study of the link between autoimmunity, irAEs, and cancer. We provide an update into the current knowledge of the PD‑1/PD-L1 axis and discuss the growing interest of this axis in the diagnosis, prognosis, and management of thyroid diseases within the context of autoimmunity and cancer, while embracing personalized medicine.

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Section: The Pd-1/pd-l1 Axis In Thyroid Diseasesmentioning

confidence: 99%

From biomarkers to therapeutic targets: the promise of PD-L1 in thyroid autoimmunity and cancer

D’Andréa¹,

Lassalle²,

Guevara³

et al. 2021

Theranostics

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“…Our findings support that classifying thyroid lesions plays an important role in stratifying patients for the malignancy risk based on initial diagnosis of FNA cytology that will help in clinical decision-making for the appropriate management. As the diagnostic work-up of indeterminate lesions of the thyroid remains difficult by cytopathology, so the introduction of novel molecular testing has promising role in better stratification and prognostication for Bethesda III and IV [39]. Therefore, molecular testing should be considered as a potential alternative for follow-up in patients with indeterminate thyroid FNAs which might eventually help in minimizing unnecessary risk associated with surgery and cost of treatment [40].…”

Section: Discussionmentioning

confidence: 99%

Diagnostic accuracy of preoperative palpation- versus ultrasound-guided thyroid fine needle aspiration cytology: an observational study

Taha

Al-Thani

El‐Menyar

et al. 2020

Postgraduate Medicine

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Background: Thyroid fine needle aspiration (FNA) is the mainstay for diagnosis of malignancy, and is an integral part of current thyroid nodule assessment. The present study analyzes the diagnostic accuracy of palpation-directed versus ultrasound guided fine-needle aspiration in patients who underwent surgery for thyroid nodules. Methods: A retrospective chart review of all consecutive patients who had FNA biopsy (palpation or ultrasound guided) of thyroid nodules and underwent thyroid gland surgery between 1998 and 2014 was conducted. The FNA findings of the palpation-guided and ultrasound-guided groups were compared for baseline characteristics. Moreover, the diagnostic accuracy of FNA findings and surgical histopathology results were analyzed. Results: A total of 1174 patients were included in the study with a mean age of 46.3 ± 11.7 years and the majority were females (75.5%). Among the study population, 392 (33.4%) patients underwent USguided FNA; 570 (48.6%) had palpation-guided FNA in clinic and no FNA was done in 212 (18%) cases. Patients underwent US-guided FNA were more likely to have suspicion of malignancy (p = 0.001), and had indeterminate findings (p = 0.001). On the other hand, palpation-guided FNA group had significantly higher frequency of benign cytology (p = 0.001). With respect to the suspicion for malignancy as well as malignancy, the US-guided group had a similar diagnostic accuracy in comparison to the palpation group. The proportion of malignancy finding on US-guided FNA (8.9%) was higher than the palpation-guided FNA (6.4%) that had been confirmed on postoperative histopathological examination (p = 0.95). Conclusion: The present study demonstrates higher sensitivity of US-guided thyroid FNA biopsies over palpation-guided FNA for the suspicion of malignancy; however, the accuracy is comparable. Moreover, both groups showed more postoperative malignancy in the benign and unsatisfactory categories than predicted in the Bethesda system. Further prospective studies are needed to underpin a realistic correlation between FNA and final histopathology reports.

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“…When the interpretation of the FISH results is unclear, DNA measurement by flow or static cytometry may be needed. However, in this case, other types of molecular tests could also be performed [103], or the patient could be considered a good candidate for conservative surgery, such as diagnostic lobectomy [1,10].…”

Section: Chromosomementioning

confidence: 99%

DNA FISH Diagnostic Assay on Cytological Samples of Thyroid Follicular Neoplasms

Vielh

Balogh

Suciu

et al. 2020

Cancers

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Although fine-needle aspiration cytology (FNAC) is helpful in determining whether thyroid nodules are benign or malignant, this distinction remains a cytological challenge in follicular neoplasms. Identification of genomic alterations in cytological specimens with direct and routine techniques would therefore have great clinical value. A series of 153 cases consisting of 72 and 81 histopathologically confirmed classic follicular adenomas (cFAs) and classic follicular thyroid carcinomas (cFTCs), respectively, was studied by means of different molecular techniques in three different cohorts of patients (pts). In the first cohort (training set) of 66 pts, three specific alterations characterized by array comparative genomic hybridization (aCGH) were exclusively found in half of cFTCs. These structural abnormalities corresponded to losses of 1p36.33-35.1 and 22q13.2-13.31, and gain of whole chromosome X. The second independent cohort (validation set) of 60 pts confirmed these data on touch preparations of frozen follicular neoplasms by triple DNA fluorescent in situ hybridization using selected commercially available probes. The third cohort, consisting of 27 archived cytological samples from an equal number of pts that had been obtained for preoperative FNAC and morphologically classified as and histologically verified to be follicular neoplasms, confirmed our previous findings and showed the feasibility of the DNA FISH (DNA fluorescent in situ hybridization) assay. All together, these data suggest that our triple DNA FISH diagnostic assay may detect 50% of cFTCs with a specificity higher than 98% and be useful as a low-cost adjunct to cytomorphology to help further classify follicular neoplasms on already routinely stained cytological specimens.

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The Role of Molecular Testing for the Indeterminate Thyroid FNA

Cited by 50 publications

References 113 publications

From biomarkers to therapeutic targets: the promise of PD-L1 in thyroid autoimmunity and cancer

From biomarkers to therapeutic targets: the promise of PD-L1 in thyroid autoimmunity and cancer

Diagnostic accuracy of preoperative palpation- versus ultrasound-guided thyroid fine needle aspiration cytology: an observational study

DNA FISH Diagnostic Assay on Cytological Samples of Thyroid Follicular Neoplasms

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