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BRAF和RET/PTC双重突变的高发生率与乳头状甲状腺癌复发相关
High Rate of BRAF and RET/PTC Dual Mutations Associated with Recurrent Papillary Thyroid Carcinoma
Henderson YC, Shellenberger TD, Williams MD  2009/5/27 10:49:00 
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Clin Cancer Res, 2009,
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Purpose:
Papillary thyroid carcinoma (PTC), the most common thyroid malignancy, usually possesses BRAF mutation or rearranged in translation (RET)/PTC rearrangements. PTC usually possesses BRAF mutation or RET/PTC rearrangements. The mutation status of patients with recurrent PTC has never been characterized in a large population.

Experimental Design:
Mutation status was determined in a cohort of 54 patients with recurrent PTC and analyzed for clinicopathologic relationships. BRAF and ras mutations were determined by PCR and sequencing of genomic DNA. RET/PTC rearrangements were analyzed by reverse transcription-PCR.

Results:
BRAF mutation in exon 15 (V600E) was found in 42/54 (77.8%) recurrent PTC patients. The RET/PTC rearrangements were detected in 9 of 54 (16.7%) patients. In addition, 5 of 54 (9.3%) recurrent PTC patients had both a BRAF mutation and a RET/PTC rearrangement. The prevalence of tumors with dual mutations found in the recurrent population far exceeds the frequency historically reported for patients with primary PTC. Patients with dual mutations were significantly older (80% older than 45 years) than patients with a BRAF mutation alone (38% older than 45 years).

Conclusions:
Recurrent PTC is significantly associated with a predominant BRAF mutation. RET/PTC rearrangements, although commonly associated with primary PTCs in younger patients, are uncommonly found in recurrent PTC patients. In addition, the incidence of dual mutations was higher in patients with recurrent PTC than in those primary PTC, as reported by others.
 

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病例分析 <span class="ModTitle_Intro_Right" id="EPMI_Home_MedicalCases_Intro_div" onclick="javascript:window.location='http://www.elseviermed.cn/tabid/127/Default.aspx'" onmouseover="javascript:document.getElementById('EPMI_Home_MedicalCases_Intro_div').style.cursor='pointer';document.getElementById('EPMI_Home_MedicalCases_Intro_div').style.textDecoration='underline';" onmouseout="javascript:document.getElementById('EPMI_Home_MedicalCases_Intro_div').style.textDecoration='none';">[栏目介绍]</span>  病例分析 [栏目介绍]

 王燕燕 王曙

上海交通大学附属瑞金医院内分泌科

患者,女,69岁。2009年1月无明显诱因下出现乏力,当时程度较轻,未予以重视。2009年3月患者乏力症状加重,尿色逐渐加深,大便习惯改变,颜色变淡。4月18日入我院感染科治疗,诉轻度头晕、心慌,体重减轻10kg。无肝区疼痛,无发热,无腹痛、腹泻、腹胀、里急后重,无恶性、呕吐等。入院半月前于外院就诊,查肝功能:ALT 601IU/L,AST 785IU/L,TBIL 97.7umol/L,白蛋白 41g/L,甲状腺功能:游离T3 30.6pmol/L,游离T4 51.9pmol/L,心电图示快速房颤。
 

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