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T1799A BRAF基因突变与甲状腺乳头状癌的甲状腺外侵犯、外周血血小板计数升高和血小板衍生生长因子-B的过度表达的相关性
Association of the T1799A BRAF mutation with tumor extrathyroidal invasion, higher peripheral platelet counts, and overexpression of platelet-derived growth factor-B in papillary thyroid cancer
Wang Y., Ji M., Wang W., Miao Z., Hou P., Chen X., Xu F., Zhu G., Sun X., Li Y., Condouris S., Liu D., Yan S., Pan J., Xing M.  2009/5/29 18:38:57 
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Endocrine-Related Cancer, 2008, Volume 15, Issue 1 
 
The relationship among BRAF mutation, platelet counts, and platelet-derived growth factor (PDGF) with respect to clinicopathological outcomes of papillary thyroid cancer (PTC) may play a role in PTC pathogenesis but remains undefined. We examined the T1799A BRAF mutation by direct genomic DNA sequencing in 108 primary PTC samples from a Chinese cohort and analyzed its relationship with clinicopathological, hematological, and other laboratory results as well as the levels of expression of PDGF in tumors. We found that the BRAF mutation was significantly associated with extrathyroidal invasion and advanced tumor stages III and IV. Specifically, extrathyroidal invasion was seen in 30/54 (56%) PTC with BRAF mutation versus 18/54 (33%) PTC without the mutation (P = 0.02). Tumor stages III and IV were seen in 16/54 (30%) PTC with BRAF mutation versus 7/54 (13%) PTC without the mutation (P=0.04). The BRAF mutation was also significantly associated with a higher platelet count, with 249.28 ± 53.76 ± 109/l in the group of patients with BRAF mutation versus 207.79±58.98×109/l in the group without the mutation (P = 0.001). An association of higher platelet accounts with extrathyroidal invasion was also seen, with 242.66±51.85×10 9/l in patients with extrathyroidal invasion versus 218.49±59.10×109/l in patients without extrathyroidal invasion (P=0.03). The BRAF T1799A-positive PTC tissues harbored a significantly higher level of PDGF-B than BRAF T1799A-negative PTC tissues. The data suggest that the BRAF T1799A mutation is associated with aggressive pathological outcomes of PTC in which high platelet counts and increased PDGF production may play a role. © 2008 Society for Endocrinology.
Correspondence Address: Xing, M.; Division of Endocrinology and Metabolism, Johns Hopkins University School of Medicine, 1830 East Monument Street, Baltimore, MD 21287, United States; email: mxing1@jhmi.edu 
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 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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