BRAFV600 gene mutation in thyroid cancer in Duhok-Iraq

الملخص EN

Background and objective: This study was done to detect the frequency of BRAFV600 mutation in thyroid cancer in Duhok-Iraq, using real time PCR.

Methods: DNA was extracted from formalin fixed, paraffin embedded tissue sections taken from 54 surgically resected primary thyroid cancers.

Using Real-Time PCR, the target (BRAFV600) DNA was amplified with the mutation-specific primers.

Results: BRAFV600 gene mutation was detected in 27.8% of cases.

It was significantly high in conventional papillary carcinoma (26.7%) compared with other papillary variants (p= 0.048), and significantly high among cases with extrathyroid extension.

Both medullary and one anaplastic carcinomas were BRAFV600 positive.

In contrast, all follicular carcinomas and the follicular variant papillary carcinoma were negative for this gene mutation.

No association was found between this mutation and any of nodal involvement, gender and age.

Conclusions: Identification of BRAFV600 gene mutation in medullary carcinoma opposes the previous concept that this gene alteration is restricted to papillary carcinoma.

Lack of BRAFV600 gene mutation among all follicular variant PTC and follicular cancers including the Hurthel cell tumor, extended the argument that these tumors are closely related.

Because this mutation was detected in clinically aggressive cancers like MTC, columnar variant PTC and ATC and was restricted to microcarcinoma with nodal metastasis in addition to its significant association with extrathyroid extension (T4), BRAFV600 molecular testing might emerge as a clinically useful supplement for the histologic assessment as an important predictor of aggressive clinical course.