Non-classical pulmonary exacerbation in cystic fibrosis revealing ALK-Translocated lung cancer: A case report

IF 0.8 Q4 RESPIRATORY SYSTEM
Mohamad Hadhud , Johnathan Arnon , Anat Hershko-Moshe , Adi Hollander , Noa Hurvitz-Lehmann , Assaf Potruch , Henny Azmanov , Rottem Kuint , Nurith Hiller , Elie Picard , Naama Sebbag-Sznajder , Shira Leebhoff , Michael Wilschanski , Myriam Grunewald , Liron Birimberg-Schwartz , Malena Cohen-Cymberknoh
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Abstract

Lung cancer is uncommon among people with cystic fibrosis (pwCF). We describe the case of a 35-year-old man with mild, stable CF disease who presented with severe respiratory distress, systemic symptoms, elevated liver enzymes and hypereosinophilia along with a lung mass and pleural effusion. The patient was subsequently diagnosed with non-small cell lung carcinoma (NSCLC), featuring anaplastic lymphoma kinase (ALK) translocation. Following treatment with a targeted tyrosine kinase inhibitor (TKI) there was a rapid tumor regression, however, his dyspnea and hypoxemia subsequently worsened. A trial of Elexacaftor/Tezacaftor/Ivacaftor (ETI) led to significant clinical improvement and enhanced pulmonary function. In vitro testing using patient-derived intestinal organoids was performed in parallel and also demonstrated a significant response to ETI. The deterioration observed following the initiation of ALK inhibitor treatment and subsequent improvement with CFTR modulators suggest that ALK inhibitor therapy may potentially impair CFTR activity. A better understanding of the relationship between these pathways could provide valuable insights and contribute to the development of more effective and tailored treatment strategies for patients with coexisting conditions. To our knowledge, this is the first reported case of ALK-translocated lung cancer in a CF patient, underscoring the necessity for a high degree of clinical suspicion in atypical presentations of pulmonary exacerbation and potentially linking ALK-EML4 activation pathways, TKI therapy and CFTR. Care for pwCF with lung cancer requires a unique multi-disciplinary approach to optimize their complex multifactorial treatment.
囊性纤维化非典型性肺恶化显示alk易位性肺癌1例报告
肺癌在囊性纤维化(pwCF)患者中并不常见。我们描述了一个35岁的病例,他患有轻度、稳定的CF疾病,表现为严重的呼吸窘迫、全身症状、肝酶升高和嗜酸性粒细胞增多,并伴有肺肿块和胸腔积液。患者随后被诊断为非小细胞肺癌(NSCLC),表现为间变性淋巴瘤激酶(ALK)易位。在接受靶向酪氨酸激酶抑制剂(TKI)治疗后,肿瘤迅速消退,然而,他的呼吸困难和低氧血症随后恶化。一项elexaftor /Tezacaftor/Ivacaftor (ETI)的临床试验显著改善并增强了肺功能。使用患者来源的肠道类器官进行的体外测试也显示出对ETI的显着反应。开始ALK抑制剂治疗后观察到的恶化和随后CFTR调节剂的改善表明,ALK抑制剂治疗可能会损害CFTR活性。更好地了解这些途径之间的关系可以提供有价值的见解,并有助于为共存疾病的患者开发更有效和量身定制的治疗策略。据我们所知,这是CF患者中首次报道的alk易位性肺癌病例,强调了对肺恶化的非典型表现进行高度临床怀疑的必要性,并可能将ALK-EML4激活途径、TKI治疗和CFTR联系起来。对肺癌合并pwCF的护理需要独特的多学科方法来优化其复杂的多因素治疗。
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来源期刊
Respiratory Medicine Case Reports
Respiratory Medicine Case Reports RESPIRATORY SYSTEM-
CiteScore
2.10
自引率
0.00%
发文量
213
审稿时长
87 days
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