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PRODUCTS

Human Thyroid Cancer Gene Mutation Detection Kit

 (Next Generation Sequencing)

CE-IVD

BACKGROUND

The last three decades have witnessed steady, worldwide increases in the incidence of TC . Rates vary widely from country to country, with the highest figures (per 100 000  person-years) reported in Lithuania (15.5), Italy (13.5), Austria (12.4), Croatia (11.4) and Luxembourg (11.1). Estimated TC-related mortality rates, by contrast, are low (0.7 and 0.5 cases per 100 000 person-years for women and men, respectively) with considerably less regional and temporal variation[2].Thyroid carcinoma occurs two to three times more often in women than in men. Thyroid carcinoma is currently the seventh most common malignancy diagnosed in women.


FNA SAMPLE ASSISTED DIAGNOSIS

Definite diagnosis is the premise of tumor treatment. Ultrasound and ultrasound-guided US-FNA are the first choice for the screening of benign and malignant thyroid nodules. However, FNA cytology can also produce about 20% - 30% uncertain results [1].NCCN guidelines recommend gene testing for Bethesda type III or IV nodules with uncertain US-FNA cytological diagnosis, which can assist in the diagnosis of benign and malignant nodules , the classification of thyroid cancer subtypes, and guide the follow-up treatment [2].


TBSRTC classification of malignant risk and management recommendations

Diagnostic Classification

Malignant Risk

Management Recommendation

NIFTPCA%)

NIFTP=CA(%)


undiagnosed or unsatisfactory sample

5-10

5-10

repeat FNA

benign

0-3

0-3

clinical follow-up

Ⅲ atypical lesions of undetermined significance or follicular lesionsAUS/FLUS

6-18

10-30

repeat FNAmolecular 

detectionglandular excision

 follicular tumor/suspected 

follicular tumorFN/SFN

10-40

25-40

molecular detection

glandular excision

suspicious tumor 

45-60

50-75

nearly total resection

glandular excision

malignant tumor

94-96

97-99

nearly total resection

glandular excision

The 2017 BETHESDA SYSTEM FOR REPORTING THYROID CYTOPATHOLOGY 




OTHER DIAGNOSIS AND TREATMENT TIPS

In addition, thyroid cancer gene detection can provide prompt information for the formulation of surgical plan, the use of targeted drugs, the diagnosis and treatment of hereditary thyroid cancer. Both FDA and NMPA have approved a variety of targeted drugs for the treatment of unresectable, recurrent and refractory differentiated thyroid cancer (DTC), medullary thyroid cancer (MTC) and undifferentiated thyroid cancer. Companion diagnosis of drugs includes RET fusion and mutation detection, BRAF V600E detection and NTRK fusion detection.

Note: papillary thyroid microcarcinoma (PTMC), familial non medullary thyroid carcinoma (FNMTC)



DETECTED GENES

This kit is based on high-throughput sequencing, covering all common genes related to thyroid tumor typing, prognosis, medication and genetics recommended in NCCN guidelines, CSCO guidelines and expert consensus.


Mutation Type

Detection Gene                

Mutation

BRAF

RET

KRAS

NRAS

HRAS

TERT-P

TP53

PIK3CA

AKT1

CTNNB1

EIF1AX

TSHR

GNAS

ZNF148

SPOP

PTEN



Fusion

209 fusion forms of 87 genes including RET, NTRK1/2/3, PAX8, PPARγ, ALK, BRAF, RAF1, MET, 

THADA, etc.


PRODUCT INFORMATION

Product NameCore TechnologyPack SizeInstruments ValidatedSample Type

Thyroid Cancer Gene

Mutation Detection Kit

RingCap®

16 Tests/Kit

32 Tests/Kit

Illumina

Tumor tissue,FNA

(For germline

 detection,

peripheral blood is

 required)



DETECTION SIGNIFICANCE

1. Detection of thyroid nodules with uncertain results by US-FNA cytology to assist in the diagnosis of benign and malignant nodules and thyroid cancer typing;

2. DTC patients who are going to undergo surgery, radioactive iodine therapy or ablation therapy should be tested to determine the risk of tumor recurrence and formulate individualized treatment plans;

3. For patients with advanced thyroid cancer who are selected for targeted therapy, target genes should be detected to guide the selection of targeted drugs;

4. Patients with hereditary MTC and their family members should be tested to provide guidance information for diagnosis, treatment and prevention.


FEATURES & ADVANTAGES

  1. Ease of Use:Based on the independent patent technology RingCap®, library preparation  in  2 steps;

  2. Fast Results:The library  preparation  takes only 3.5 hours,  2 working days from sampling to reporting;

  3. Comprehensive Coverage:Detects mutations in 16 genes and up to 209 fusion forms in 87 genes for full cycle management of thyroid tumors;

  4. High Sensitivity:It can detect gene mutations as low as 1% in 5ng FNA samples or 25ng tissue samples, and gene fusions as low as 200 copies/ul in RNA samples.

           


DETECTION PROCESS 

1. Nucleic Acid Extraction

2.Library Preparation (3.5 hours total time)

3.Sequencing

4.Auto-data Analysis

5.Report 




[1] NCCN Thyroid Carcinoma 2022 V2

[2] Thyroid cancer: ESMO Clinical Practice Guidelines for Diagnosis, Treatment and Follow-up