甲状腺髓癌的分子基础和自然史:它 (几乎) 都在RET中

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Nicolas Sahakian¹, Frédéric Castinetti¹, Pauline Romanet²

¹Aix Marseille Univ, APHM, INSERM, MMG, La Conception University Hospital, Department of Endocrinology, Marseille, France.

Cancers

|October 14, 2023

概括

骨髓甲状腺癌 (MTC) 涉及转移过程中REarranged (RET) 基因突变. 本综述探讨了RET途径和其他影响MTC侵略性和异质性的因素.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

骨髓性甲状腺癌 (MTC) 是一种罕见的内分泌瘤,由于生殖线RET突变,偶尔 (75%) 或作为2型多重内分泌瘤 (25%) 的一部分发生.
RET致病变体,特别是M918T,涉及到侵略性的零星MTC,突出显示了RET信号通路的作用.
关于RET编码突变与MTC攻击性之间的直接联系仍在争论中,有证据表明它可能主要影响发病时的年龄.

研究的目的:

为了审查甲状腺髓癌的分子基础.
专注于在MTC病变发生过程中REarranged during Transfection (RET) 信号通路的作用.
探索有助于MTC表型异质性的潜在机制.

主要方法:

关于骨髓甲状腺癌遗传学和分子途径研究的文献综述.
分析RET生殖系突变和体质变异在MTC中的作用.
检查其他影响MTC的遗传和表观遗传因素.

主要成果:

生殖系RET突变在家族MTC (MEN2) 中具有致病性,而体质RET突变在零星MTC中被发现.
RET信号通路的失调是MTC发展和进展的核心.
除了特定的RET突变之外的因素,包括多形态,表观遗传变化和MET和RAS家族基因的改变,可能会影响MTC行为.

结论:

在甲状腺髓癌中,RET路径的改变至关重要,但特定的突变可能不仅仅决定了攻击性.
在MTC的表型变异可能是遗传,表观遗传和环境因素的复杂相互作用的结果.
为了全面了解MTC异质性,需要对这些多因素影响进行进一步的研究.

关键词:

在RET的基础上,RET是RET.氨酸激酶抑制剂RET 氨酸激酶抑制剂生殖系或体质遗传突变的发生.骨髓甲状腺癌,甲状腺癌.多发性内分泌瘤2型 2型预测性的生物标志物

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