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同时发生在同一个甲状腺结节中的BRAF V600E和NRAS Q61R突变:一个病例报告
Marianna Brogna1, Francesca Collina1, Simona Losito1
1Pathology Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy.
AME case reports
|October 9, 2024
概括
这项研究报告了一种罕见的乳头甲状腺癌病例,在同一甲状腺叶的不同区域同时发生了BRAF和NRAS突变. 这一发现表明内异质性,可能会影响患者的预后和侵袭性甲状腺癌的治疗策略.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
背景情况:
- 乳头甲状腺癌 (PTC) 是最常见的内分泌恶性瘤.
- 甲状腺结核中的多个瘤基因突变并不常见,可能表明瘤的攻击性行为.
- 在PTC中,RET/PTC,RAS和BRAF突变通常被认为是相互排斥的,尽管它们的联合影响仍在争论中.
研究的目的:
- 在患有乳头甲状腺癌的患者中报告一种罕见的同时发生BRAF和NRAS突变的病例.
- 调查检测同一个瘤内的通常排斥性突变的含义.
- 突出突出PTC中内异质性的潜在作用.
主要方法:
- 一个46岁的女性患者的案例研究,她患有TIR5甲状腺结节.
- 基因分析用于检测瘤不同形态区域的突变.
- 识别出突变的不同瘤区域的形态评估.
主要成果:
- 在右甲状腺叶的不同区域检测同时发生的BRAF p. ((V600E) 和NRAS p. ((Q61R) 突变.
- 突变BRAF的区域显示了经典的乳头癌形态.
- 该NRAS突变区域表现出皮质癌的卵泡变异的特征.
结论:
- 通常相互排斥的突变的同时发生表明PTC中的内异质性.
- 患有多个突变的患者可能面临更糟糕的预后和更具侵略性的疾病.
- 同步突变可以影响治疗决策,包括手术,化疗和向疗法.
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