Thyroid Cancer

Synonyms: -

Material:

FFPE tissue sections

TAT:

varies depending on the analysis

Method:

NGS

Overview

Thyroid tumours are classified in the fifth edition of the WHO Classification of Endocrine and Neuroendocrine Tumours according to cell lineage, biological behaviour, histomorphology and molecular features. The principal epithelial thyroid carcinoma groups are follicular cell-derived carcinomas and C-cell-derived medullary thyroid carcinoma. Malignant follicular cell-derived neoplasms include papillary thyroid carcinoma, follicular thyroid carcinoma, invasive encapsulated follicular variant of papillary thyroid carcinoma, oncocytic carcinoma, differentiated high-grade thyroid carcinoma, poorly differentiated thyroid carcinoma and anaplastic thyroid carcinoma.

GLOBOCAN estimated 959,281 new cases of thyroid cancer worldwide in 2024, making thyroid cancer the sixth most commonly diagnosed cancer overall.

Clinical background and relevance

Molecular alterations in thyroid tumours are associated with cell of origin, histological subtype and degree of differentiation. Molecular analysis may support the assessment of selected thyroid nodules and can identify predictive biomarkers in advanced thyroid carcinoma. The indication, scope and interpretation of testing depend on the clinical setting and tumour type.

Diagnostic application

In thyroid nodules with indeterminate cytology, particularly Bethesda categories III and IV, molecular analysis may complement cytological, ultrasound and clinical risk assessment. Detection of BRAF p.V600E strongly supports a diagnosis of papillary thyroid carcinoma in an appropriate cytomorphological, radiological and clinical context. The molecular finding must not be interpreted independently of the morphological findings.

Follicular thyroid carcinoma and oncocytic carcinoma cannot be diagnosed definitively by fine-needle aspiration or molecular analysis alone because their diagnosis requires histological assessment for capsular and/or vascular invasion. In these lesions, molecular findings may modify the estimated probability of malignancy but cannot establish or exclude invasion.

Predictive application in advanced disease

In advanced, progressive or threatening follicular cell-derived thyroid carcinoma, tumour molecular analysis may identify actionable alterations that may guide systemic treatment. Current NCCN guidance highlights BRAF p.V600E and actionable gene fusions involving RET, NTRK1, NTRK2, NTRK3 or ALK in advanced follicular cell-derived thyroid carcinoma. In selected patients, assessment of mismatch repair deficiency (dMMR), microsatellite instability (MSI) and tumour mutational burden (TMB) may also be considered in accordance with the applicable treatment setting and current guideline or regulatory criteria.

Entity-specific testing considerations

Medullary thyroid carcinoma

In medullary thyroid carcinoma, germline and somatic testing must be distinguished. All patients with medullary thyroid carcinoma should be offered germline RET analysis with appropriate genetic counselling, irrespective of whether the tumour appears sporadic. Tumour-based somatic testing does not replace germline analysis.

Somatic tumour RET analysis should be considered in medullary thyroid carcinoma with high-risk clinical or pathological features, clinically significant persistent or recurrent disease, or disease progression, and should be completed before initiating RET-directed systemic therapy. If a potentially germline RET variant is identified in tumour tissue, confirmatory analysis using non-neoplastic material may be indicated.

Anaplastic thyroid carcinoma

Anaplastic thyroid carcinoma requires urgent molecular evaluation because the result may directly determine the initial treatment strategy. Reflex testing for BRAF p.V600E is recommended at diagnosis. Rapid BRAF immunohistochemistry can be used to shorten turnaround time, followed by molecular confirmation where appropriate. Broader molecular profiling should at minimum permit detection of BRAF p.V600E and actionable gene fusions involving NTRK1, NTRK2, NTRK3, ALK and RET. NCCN also includes MSI, dMMR and TMB in the biomarker work-up for anaplastic thyroid carcinoma. For BRAF-negative anaplastic thyroid carcinoma, the European expert consensus recommends broader DNA- and RNA-based analysis to identify other potentially actionable alterations.

Scope of the offered targeted analysis

The offered sequencing and fusion assays provide a focused analysis of selected alterations with diagnostic or therapeutic relevance in thyroid carcinoma. The sequencing assay covers BRAF and RET, while the fusion assay covers ALK, NTRK1, NTRK2, NTRK3, RET and ROS1. The assays may be ordered individually or together as a combined targeted analysis.

Available tests

The analyses listed below may be ordered individually or, where applicable, as part of a combined molecular analysis. The assays described here represent a focused set of biomarkers and do not replace comprehensive biomarker profiling when broader testing is clinically indicated.

Single-method analysis	Panel	Gene scope	Purpose
Sequencing	Panel00765	BRAF, RET	Detection of sequence variants
Fusion gene analysis	Panel00760	ALK, NTRK1, NTRK2, NTRK3, RET, ROS1	Detection of reportable gene fusions
Microsatellite instability (MSI) analysis	Panel00764	Microsatellite marker analysis	Determination of tumour MSI status

Combined analysis	Panel	Gene scope
Focused targeted analysis	Panel00763	Sequence analysis of BRAF and RET + fusion analysis of ALK, NTRK1, NTRK2, NTRK3, RET and ROS1

Additional molecular genetic analyses on tumour tissue, e.g., the determination of tumour mutational burden (TMB) and sequencing analysis of NRAS, HRAS, KRAS, the TERT promoter, TP53 or EIF1AX are also available (see Panel 00617 – ).

Therapy

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 24.09.2026

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