Salame Hassan, Mckey Remy, Ballout Mohamad, Saad Wajih
Internal Medicine, Lebanese University Faculty of Medicine, Beirut, LBN.
Cardiology, Hospital Center Agglomeration De Nevers, Nevers, FRA.
Cureus. 2021 Dec 21;13(12):e20588. doi: 10.7759/cureus.20588. eCollection 2021 Dec.
We present the first reported case of stage 4 thymoma with pleural metastases that was found to be driven by the neurotrophic tyrosine receptor kinase (NTRK)-fusion gene. The patient was started on chemotherapy but it was discontinued due to intolerable side effects. Alternative options in such patients with rare diseases are limited; in fact, many concerns exist regarding the safety and efficacy of newly approved agents for the treatment of advanced thymomas, such as pembrolizumab and sunitinib. Due to NTRK-fusion gene positivity, entrectinib, a novel NTRK-fusion inhibitor, was then initiated. This drug has shown an objective response of 57% in treating NTRK fusion-positive solid tumors of 19 different histological subtypes, predominantly sarcomas, non-small cell lung cancer (NSCLC), and mammary analogue secretory carcinoma of the salivary gland. However, it has never been assessed in the treatment of thymomas. After 10 months of follow-up, the patient showed a significant response with mild adverse events, which was managed by temporary discontinuation of the drug. This case highlights the crucial role of whole-genome sequencing and tissue-agnostic antineoplastics in the future of cancer treatment.
我们报告了首例经报道的伴有胸膜转移的4期胸腺瘤病例,该病例被发现由神经营养性酪氨酸受体激酶(NTRK)融合基因驱动。患者开始接受化疗,但由于无法耐受的副作用而停药。对于这类患有罕见疾病的患者,可供选择的方案有限;事实上,对于新批准用于治疗晚期胸腺瘤的药物,如帕博利珠单抗和舒尼替尼,其安全性和有效性存在诸多担忧。由于NTRK融合基因呈阳性,随后开始使用新型NTRK融合抑制剂恩曲替尼。该药物在治疗19种不同组织学亚型的NTRK融合阳性实体瘤(主要为肉瘤、非小细胞肺癌(NSCLC)和涎腺乳腺样分泌癌)时显示出57%的客观缓解率。然而,其从未在胸腺瘤治疗中进行过评估。经过10个月的随访,患者显示出显著缓解,且不良事件轻微,通过暂时停药进行处理。该病例凸显了全基因组测序和不依赖组织类型的抗肿瘤药物在未来癌症治疗中的关键作用。