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Updated: Jul 3, 2025

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在2型多重内分泌新陈代谢患者中,基因型特定的表型是否会像当前指南预测的那样发生?

Teresa Binter1, Sabina Baumgartner-Parzer2, Marie Helene Schernthaner-Reiter2

  • 1Division of Visceral Surgery, Department of General Surgery, Medical University of Vienna, 1090 Vienna, Austria.

Cancers
|February 10, 2024
PubMed
概括

多重内分泌新陈代谢2型 (MEN2) 的临床结果取决于特定的RET基因突变. 这项研究在V804M/L突变患者中发现染细胞瘤比预期的少,支持基因型导向管理.

关键词:
在RET突变中.在C细胞增生过度增生中,发生生殖线突变的生殖线突变.遗传性骨髓甲状腺癌 遗传性骨髓甲状腺癌多发性内分泌瘤2型 2型叶染色细胞瘤 ( pheochromocytoma) 是一种致血性细胞瘤.原发性副甲状腺功能障碍症.

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