Experts
Аccumulated experience and knowledge in genetics, laboratory diagnostics and bioinformatics
Genetic testing for thyroid cancer (TC)
Genetic testing for thyroid cancer (TC)
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Thyroid cancer overview
Thyroid cancer is quite uncommon compared to other types of cancer.
Thyroid cancer is often identified at a younger age than most part of other cancers, and the incidence in women is about 3 times higher.
Types of TC
Thyroid cancer is classified by types based on the cells found in the tumor, what is crucial for treatment selection and prognosis. TC types include:
Differentiated TC
- papillary TC (the most prevalent, detected more often at the age of 30 — 50 years, often responds to therapy)
- follicular TC (uncommon, detected more often after 50 years, usually localized, in case of spread — to the lungs and bones
- TC from Hurthle cells (uncommon, invasive and tend to grow, affecting neck structures and extending to other parts of the organism
- low-grade TC (uncommon, more invasive than other types of differentiated TC and often resistant to regular treatment)
Anaplastic TC (uncommon, fast-growing, detected more often after 60 and is hardly treated)
Medullary TC (uncommon, derived from C-cells that make the hormone referred to as calcitonin. Increased level of calcitonin in the blood may reveal medullary TC at a very early stage. Certain types of medullary TC are triggered by the RET gene, that passes from parents to offspring. Alterations in the RET gene can result in inherited medullary TC and multiple endocrine neoplasia type 2
Other uncommon types of TC:
- Thyroid lymphoma
- Thyroid sarcoma
About 8 out of 10 cases with familial forms of thyroid cancer (revealed as a part of multiple endocrine neoplasia type 2 syndromes (MEN 2) or as an inherited form of medullary TC) have the RET gene mutation in 634 codon. The RET gene mutations in codons 618 and 620 are even less than 10 percent. Early and invasive medullary TC cancer is related to the RET gene mutations in codons 634 and 918 and demands the most urgent intervention.
The RET gene mutations in codon 883 is related to a sluggish (slow-growing and not extended to the lymph nodes type of medullary TC).
The assay contains all mentioned mutations.
Genetic assay for thyroid cancer overview
An analysis of the patient`s tumor material based on NGS technology, including genes relevant for the selection of approved targeted therapy, as well as of therapy from prospective clinical trials.
Changes in these genes cause tumor progression and serve as diagnostic, prognostic, and predictive markers of thyroid cancer.
The testing identifies:
- Hotspots (SNV/InDels)
- Copy number variations (CNV)
- Chromosomal aberrations (Gene fusions)
To interpret the results of the assay and further cancer therapy choosing, a consultation with a clinical geneticist and an oncologist is required.
Hotspots (SNV/indels)
9 genes
AKT1
ALK
BRAF
CTNNB1
HRAS
KRAS
NRAS
PIK3CA
RET
Copy number variations (CNV)
4 genes
ALK
BRAF
KRAS
PIK3CA
Chromosomal aberrations (Gene fusions)
6 genes
ALK
BRAF
NTRK1
NTRK2
NTRK3
RET
Indications
For patients with thyroid cancer to:
- Choose of cancer therapy
- Monitor and adjust therapy in case of disease relapse
- Participation in clinical trials
- Inherited medullary thyroid cancer or MEN 2 confirmation
Therapy
Next Generation Sequencing (NGS) method principle
The NGS method allows reading concurrently of hundreds of millions of short DNA sequences and detection of all types of mutations, including
Pros
- Superior sensitivity and specificity of the method
- Fast turnaround time
- Concurrent identification of all types of mutations, including structural rearrangements
- Minimum requirements for the quantity and quality of samples
- Reducing time of analysis
At Kromos laboratory
Privacy
All data is strictly confidential and cannot be shared with third parties.
Timeframe
Results in a short time
Reliability
Quality control at each stage of the study
Free shipping
Delivery of biomaterial throughout Georgia