甲狀腺乳突上皮癌之BRAF基因突變:臨床意義以及細胞型態學之相關性

BRAF mutation in papillary carcinoma of the thyroid: Clinical implication and cytomorphology correlation

黃冠槙(Kung-Jen Huang)

指導教授 ： 李宏謨

臺北醫學大學/醫學院/醫學檢驗生物技術學研究所/碩士(2006年)

摘要

細針穿刺細胞學檢查成為目前用來評估甲狀腺結節之最重要利器，近年被發現與甲狀腺乳突上皮癌 (papillary thyroid carcinoma)有高度相關性的BRAF基因突變，其突變發生在鹼基1799的位置上，造成T變成A (transversion)，使第599個氨基酸由valine變成glutamine (V599E)。53例經病理科醫師診斷確定為甲狀腺乳突上皮癌之病患，偵測BRAF基因突變率，並藉由顯微鏡觀察甲狀腺乳突上皮癌其細胞型態學特徵，並進一步探討細胞型態學與BRAF基因突變之相關性。其研究結果發現BRAF基因突變的發生率為68 %；細胞型態學特徵與BRAF基因突變與否進行分析，其中nuclear grooves (p = 0.0026)，chewing gum colloid (p = 0.0154)，metaplastic cell (p = 0.0014)與BRAF的突變有相關性。數據顯示BRAF突變較常出現在年齡較大之病患，有甲狀腺外之侵犯或癌症分期較高之病患愈會有BRAF突變的可能。

關鍵字

甲狀腺乳突上皮癌 ； 細胞型態學

並列摘要

Fine needle aspiration is widely utilized for evaluation of patients with thyroid nodules. A recent important genetic finding in papillary thyroid carcinoma is the oncogenic T1799A transversion mutation of the gene for the B-type Raf kinase (BRAF). In this study, we analyzed the relationship between BRAF mutation, cytomorphology of papillary thyroid carcinoma, and their clinical features. Among 53 papillary thyroid carcinoma studied, 68 % had mutated BRAF. Our results showed that activating mutation of BRAF gene correlated significantly with nuclear grooves (p = 0.0026), chewing gum colloid (p = 0.0154), and metaplastic cell (p = 0.0014). BRAF mutation were associated with old age, extrathyroidal invasion, and advanced tumor stage at presentation.

並列關鍵字

BRAF ； papillary carcinoma of the thyroid ； cytomorphology

參考文獻

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