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通过细针穿刺细胞学检测甲状腺乳头状癌和转移性恶性黑色素瘤中的BRAFV600E突变:基因检测如何推动个性化医疗。

Detection of BRAFV600E mutation on papillary thyroid carcinoma and metastatic malignant melanoma by fine-needle aspiration cytology: how genetic testing may drive toward personalized medicine.

作者信息

Rocca Bruno Jim, Ambrosio Maria Raffaella, Ginori Alessandro, Disanto Andrea

机构信息

Department of Medical Biotechnology Section of Pathology, University of Siena, Italy.

出版信息

Diagn Cytopathol. 2014 Oct;42(10):877-9. doi: 10.1002/dc.23060. Epub 2013 Nov 7.

Abstract

A genetic link between cutaneous melanoma and thyroid cancer (TC) has been identified. A high percentage of both melanomas and papillary carcinomas of the thyroid harbors a recurrent mutation (i.e., BRAF(V600E) ) in the BRAF oncogene. Herein, we report the case of a 65-year-old man with papillary TC and cutaneous malignant melanoma metastatic to masseter muscle, both characterized by BRAF mutation. This is one of the rare reports in which a complete molecular characterization has been performed. As the patients with papillary thyroid carcinoma have a higher risk of malignant melanoma and vice versa, continuous monitoring of such patients, with either of these tumors is necessary. Fine-needle aspiration cytology is useful as shown in the present case.

摘要

已确定皮肤黑色素瘤与甲状腺癌(TC)之间存在遗传联系。甲状腺的黑色素瘤和乳头状癌中很大比例都存在BRAF癌基因的复发性突变(即BRAF(V600E))。在此,我们报告一例65岁男性病例,其患有乳头状TC和转移至咬肌的皮肤恶性黑色素瘤,二者均具有BRAF突变特征。这是少数进行了完整分子特征分析的报告之一。由于甲状腺乳头状癌患者发生恶性黑色素瘤的风险较高,反之亦然,因此对患有这两种肿瘤之一的患者进行持续监测是必要的。如本病例所示,细针穿刺细胞学检查很有用。

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