Abdul Rehman Syed, Aakash Gorana, Erik Nohr, Xiaoli-Kat Yuan, Parthiv Amin, Sana Ghaznavi, Debbie Lamb, John B. McIntyre, Markus Eszlinger, Ralf Paschke
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引用次数: 0
摘要
导言三分之二的转移性分化型甲状腺癌（DTC）患者对放射性碘（RAI）耐药，导致预后不良和高死亡率。对于罕见的NTRK和RET融合阳性、RAI耐药的转移性甲状腺癌，在使用NTRK或RET抑制剂治疗期间重新诱导RAI耐药的成功率参差不齐。病例介绍与讨论：我们报告了两例接受拉罗替尼治疗的RAI耐药肺转移病例：83岁男性，ETV6::NTRK3融合阳性肿瘤，TERT启动子突变c.-124C>T；31岁女性，TPR::NTRK1融合阳性肿瘤（TERT启动子突变阴性）。在接受拉罗替尼治疗后，诊断性 I-123 全身扫描显示，TERT 阳性肿瘤的 RAI 摄取再诱导失败，甲状腺分化评分（TDS）为-0.287。相比之下，TERT 阴性肿瘤的 I-131 再摄取成功，TDS 为-0.060。结论：与同时发生TERT和BRAF突变的RAI耐药情况一样，TERT突变和NTRK融合的同时发生也可能导致再敏感失败。
Predictors of radioiodine (RAI)-avidity restoration for NTRK fusion-positive RAI resistant metastatic thyroid cancers.
Introduction
Two-thirds of metastatic differentiated thyroid cancer (DTC) patients have radioiodine (RAI)-resistant disease, resulting in poor prognosis and high mortality. For rare NTRK and RET fusion-positive metastatic, RAI-resistant thyroid cancers, variable success of re-induction of RAI-avidity during treatment with NTRK or RET inhibitors has been reported.
Case Presentation and Discussion:
We report two cases with RAI-resistant lung metastases treated with larotrectinib: 83-year-old male presenting with an ETV6::NTRK3 fusion-positive tumor with the TERT promoter mutation c.-124C>T, and a 31-year-old female presenting with a TPR::NTRK1 fusion-positive tumor (and negative for TERT promoter mutation). Post-larotrectinib treatment, diagnostic I-123 whole body scan revealed unsuccessful RAI-uptake re-induction in the TERT-positive tumor, with a Thyroid Differentiation Score (TDS) of -0.287. In contrast, the TERT-negative tumor exhibited successful I-131 reuptake with a TDS of -0.060.
Conclusion:
As observed for RAI-resistance associated with concurrent TERT and BRAF mutations, the co-occurrence of TERT mutations and NTRK fusions may also contribute to re-sensitization failure.
期刊介绍：
The ''European Thyroid Journal'' publishes papers reporting original research in basic, translational and clinical thyroidology. Original contributions cover all aspects of the field, from molecular and cellular biology to immunology and biochemistry, from physiology to pathology, and from pediatric to adult thyroid diseases with a special focus on thyroid cancer. Readers also benefit from reviews by noted experts, which highlight especially active areas of current research. The journal will further publish formal guidelines in the field, produced and endorsed by the European Thyroid Association.
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