DNA FISH Diagnostic Assay on Cytological Samples of Thyroid Follicular Neoplasms

Vielh, Philippe; Balogh, Zsuzsanna; Suciu, Voïchita; Richon, Catherine; Job, Bastien; Meurice, Guillaume; Valent, Alexander; Lacroix, Ludovic; Marty, Virginie; Motté, Nelly; Dessen, Philippe; Caillou, Bernard; Ghuzlan, Abir Al; Bidart, Jean Michel; Lazar, Vladimir; Hofman, Paul; Scoazec, Jean‐Yves; El‐Naggar, Adel K.; Schlumberger, Martin

doi:10.3390/cancers12092529

Cited by 3 publications

(5 citation statements)

References 138 publications

(180 reference statements)

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“…On the other hand, the Afirma gene expression classifier (GEC) represents another commonly used molecular test for indeterminate thyroid proliferations, which is based on the opposite concept to predict and "rule in" benign diagnoses [37,[83][84][85][86][87][88][89][90][91][92][93][94][95]. In 2012, Alexander et al introduced the Afirma GEC was firstly analyzed in a key study including 265 indeterminate thyroid lesions out of 4812 FNAC cases from a multicenter trial [37].…”

Section: Aus/flusmentioning

confidence: 99%

“…However, in several studies, indeterminate nodules with oncocytic predominance were defined by a lower specificity or higher false positive rate in GEC tests. [83][84][85][86][87][88][89][90][91][92]. Brauner et al included a cohort of 122 oncocytic predominant nodules identified as GEC suspicious but resulting in benign pathologies.…”

Section: Follicular Neoplasm (Fn/sfn)mentioning

confidence: 99%

“…In a recent paper published by Vielh et al, the authors studied follicular adenomas (FA) and carcinomas (FTC) and they suggested the hypothesis that an analysis of a large series of FA and FTC with their genetic landscape could potentially help to identify a combination of genetic alterations, such as somatic copy number variations (sCNVs) characteristic of FTC. Furthermore, these genetic biomarkers would be useful in developing simple and direct tests that are applicable to cytological specimens to complement cytomorphology [91]. In their study, they firstly included two independent (training and validation) sets of histologically confirmed samples from two comprehensive cancer centers (Gustave Roussy (GR), Villejuif, France, and the University of Texas MD Anderson Cancer Center (UT MDACC), Houston, TX, USA) represented by frozen tissues from 59 FA and 67 FTC [91].…”

Section: Follicular Neoplasm (Fn/sfn)mentioning

confidence: 99%

“…Furthermore, these genetic biomarkers would be useful in developing simple and direct tests that are applicable to cytological specimens to complement cytomorphology [91]. In their study, they firstly included two independent (training and validation) sets of histologically confirmed samples from two comprehensive cancer centers (Gustave Roussy (GR), Villejuif, France, and the University of Texas MD Anderson Cancer Center (UT MDACC), Houston, TX, USA) represented by frozen tissues from 59 FA and 67 FTC [91]. Hence, they included 27 stained FN/SFN with histological follow-up, confirming their previous findings and showing the feasibility of the DNA FISH (DNA fluorescent in situ hybridization) assay.…”

Section: Follicular Neoplasm (Fn/sfn)mentioning

confidence: 99%

“…Hence, they included 27 stained FN/SFN with histological follow-up, confirming their previous findings and showing the feasibility of the DNA FISH (DNA fluorescent in situ hybridization) assay. These data assessed that their triple DNA FISH diagnostic assay may be used to identify 50% of FTCs with a high specificity (>98%) and with a low-cost adjunct to cytomorphology to help further classify follicular neoplasms on already routinely stained cytological specimens [91].…”

Section: Follicular Neoplasm (Fn/sfn)mentioning

confidence: 99%

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Thyroid and Molecular Testing. Advances in Thyroid Molecular Cytopathology

Rossi

Vielh

2021

JMP

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Thyroid nodules are a common finding in the adult population including the fact that more than 50% of individuals, over the age of 60, have thyroid nodules. The majority have been mostly detected with ultrasonography and 10% by palpation. The majority of these nodules are benign, whereas 5–15% of them are malignant. The pre-operative diagnosis of cancer is a critical challenge in order to ensure that each patient can be treated with the best tailored management with a reduction of unnecessary surgery for benign lesions. Fine needle aspiration cytology (FNAC) represents the first and most important diagnostic tool for the evaluation of thyroid lesions. According to the literature, FNAC is able to render a conclusive diagnosis in up to 70–80% of all cases. For the remaining 20–30% of nodules, cytological diagnoses fall into the category of indeterminate lesions mostly due to the lack of specific morphological features. According to the Bethesda system for reporting thyroid cytopathology (TBSRTC), indeterminate lesions can be sub-stratified into three different subcategories including “atypia of undetermined significance/follicular lesion of undetermined significance-AUS/FLUS”; “follicular or Hürthle cell neoplasm/suspicious for follicular or Hürthle cell neoplasm-FN/SFN”; and “suspicious for malignancy-SFM”. Many of these indeterminate lesions undergo repetition or diagnostic lobectomy. Nonetheless, the majority of these cases will have a benign diagnosis due to the fact that the rate of cancer ranges between 6 and 30%. It stands to reason that the application of ancillary technique, mostly molecular testing, emerged as a critical additional tool for those thyroid indeterminate lesions. Since the early 1990s, material collected from cytological samples yields sufficient and adequate cells for the detection of point mutation or gene fusions. Nonetheless, the further availability of new sequencing technologies such as next-generation sequencing (NGS) has led to more comprehensive molecular applications adopted now in clinical use. The current review investigates the multiple advances in the field of molecular testing applied in thyroid cytology.

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Section: Aus/flusmentioning

confidence: 99%

Section: Follicular Neoplasm (Fn/sfn)mentioning

confidence: 99%

Section: Follicular Neoplasm (Fn/sfn)mentioning

confidence: 99%

Section: Follicular Neoplasm (Fn/sfn)mentioning

confidence: 99%

Section: Follicular Neoplasm (Fn/sfn)mentioning

confidence: 99%

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Thyroid and Molecular Testing. Advances in Thyroid Molecular Cytopathology

Rossi

Vielh

2021

JMP

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Improved guidance is needed to optimise diagnostics and treatment of patients with thyroid cancer in Europe

de la Fouchardière,

Fugazzola,

Locati

et al. 2023

Endocrine

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Although thyroid cancer (TC) is generally associated with a favourable prognosis, there are certain high-risk groups with a clear unmet therapeutic need. Unravelling the genomic landscape of TC has recently led to the development of novel effective targeted treatments. To date, these treatments have mostly been evaluated in non-randomised single-arm phase II clinical trials and are consequently non-reimbursed in several countries. Furthermore, most of these agents must be tailored to individual patient molecular characteristics, a context known as personalised cancer medicine, necessitating a requirement for predictive molecular biomarker testing. Existing guidelines, both in Europe and internationally, entail mostly therapeutic rather than molecular testing recommendations. This may reflect ambiguity among experts due to lack of evidence and also practical barriers in availability of the preferred molecular somatic screening and/or targeted treatments. This article reviews existing European recommendations regarding advanced/metastatic TC management with a special focus on molecular testing, and compares findings with real-world practice based on a recent survey involving TC experts from 18 European countries. Significant disparities are highlighted between theory and practice related to variable access to infrastructure, therapies and expertise, together with the insufficient availability of multidisciplinary tumour boards. In particular, practitioners’ choice of what, how and when to test is shown to be influenced by the expertise of the available laboratory, the financing source and the existence of potential facilitators, such as clinical trial access. Overall, the need of a collaborative initiative among European stakeholders to develop standardised, accessible molecular genotyping approaches in TC is underscored.

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