肺部非典型类癌(AC)是一种极为罕见的神经内分泌肿瘤。神经营养原肌球蛋白受体激酶(NTRK)融合仅在0.5%的非小细胞肺癌中报道,并且在AC中更为罕见,只有一例先前报告的病例。目前,对于晚期病例的最佳治疗策略和预后,目前尚无确凿的证据.我们介绍了一名完全切除后转移性AC的女性患者。由于在这种情况下生长抑素受体的低表达,生长抑素类似物和肽受体放射性核素治疗不可用。在寻求其他替代疗法之后,包括化疗(即,卡铂,依托泊苷,卡培他滨,替莫唑胺,和紫杉醇),依维莫司,和阿妥珠单抗,她带着显著的进步回来了,包括无数的皮下结节,左胸膜转移,多发性骨转移,和脑转移。新的活检分析显示ETV6-NTRK2融合。她立即以600mgq.d的剂量给予第一代原肌球蛋白受体激酶抑制剂entrectinib。随后一个月的治疗导致所有转移性肺病变完全缓解。迄今为止,从开始服用恩曲替尼起,她至少1年持续获益.这里,我们介绍了第一例女性转移性AC患者的ETV6-NTRK2融合,并用恩替尼成功治疗,为恩替替尼在NTRK阳性AC患者中的应用提供证据,并强调了分子谱分析对此类病例的关键作用。
Pulmonary atypical carcinoid (AC) is an extremely rare neuroendocrine tumor. The neurotrophic tropomyosin receptor kinase (NTRK) fusions are reported in only 0.5% of nonsmall cell lung cancer, and are more rare in AC with only one previously reported
case. Currently, there is little established evidence on the optimal therapeutic strategies and prognosis for advanced cases. We present a female patient with metastatic AC after complete resection. Due to low expression of somatostatin receptor in this
case, somatostatin analogs and peptide receptor radionuclide therapy were not available. After pursuing other alternative treatments, including chemotherapy (ie, carboplatin, etoposide, capecitabine, temozolomide, and paclitaxel), everolimus, and atezolizumab, she returned with significant progression, including innumerable subcutaneous nodules, left pleura metastasis, multiple bone metastases, and brain metastases. New biopsy analysis revealed an ETV6-NTRK2 fusion. She was immediately administered the first-generation tropomyosin receptor kinase inhibitor entrectinib at a dose of 600 mg q.d. A subsequent month of treatment resulted in a complete response in all of the metastatic lung lesions. To date, she has maintained sustained benefit for at least 1 year from initiation of entrectinib. Here, we present the first
case of a female patient with metastatic AC harboring the ETV6-NTRK2 fusion, and successfully treated with entrectinib, providing evidence for the application of entrectinib in patients with NTRK-positive AC, and underscoring the critical role of molecular profiling for such cases.