我们描述了一位患者，在接受浆液性交界性肿瘤 (SBOT) 治疗十年后，被诊断出患有苗勒管起源的转移性腺癌，携带 BRAF V600E 突变。虽然 SBOT 中 BRAF 突变很常见，但它们通常与转化或复发的几率较低有关。该治疗方法将激素抑制与受体酪氨酸激酶抑制剂（达拉非尼和曲美替尼）相结合，已证明具有显着且持久的疗效。这通过系列 PET-CT 扫描得到临床证明，具有持续的反应和延长的无进展生存期，并通过监测 CA-125 水平得到血清学证实。这个案例证明了早期下一代测序在检测罕见癌症和可能的转移中可操作的分子变化方面的关键作用。它为治疗罕见的苗勒管腺癌提供了宝贵的见解，并强调了靶向治疗在实现持久治疗结果方面的重要性。© 2024 作者。由爱思唯尔公司出版

We describe a patient diagnosed with a metastatic adenocarcinoma of Müllerian origin, harboring a BRAF V600E mutation, ten years after being treated for a serous borderline tumor (SBOT). While BRAF mutations in the setting of SBOTs are common, they have been typically associated with a low chance of transformation or recurrence. The therapeutic approach, which combined hormone inhibition with receptor tyrosine kinase inhibitors (dabrafenib and trametinib), has demonstrated notable and enduring efficacy. This is clinically evidenced through serial PET-CT scans with sustained responses and extended progression-free survival, and serologically confirmed by monitoring CA-125 levels. This case demonstrates the critical role of early next-generation sequencing in detecting actionable molecular changes in rare cancers and possible metastases. It provides valuable insights into treating uncommon Müllerian adenocarcinomas and underscores the importance of targeted therapies in achieving long-lasting treatment outcomes.© 2024 The Authors. Published by Elsevier Inc.