An extremely rare case of small-cell lung cancer harboring variant 2 of the EML4-ALK fusion gene

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• 作者：Gouji Toyokawa ; Mitsuhiro Takenoyama ; Kenichi Taguchi ; Ryo Toyozawa ; Eiko Inamasu ; Miyako Kojo ; Yoshimasa Shiraishi ; Yosuke Morodomi ; Tomoyoshi Takenaka ; Fumihiko Hirai ; Masafumi Yamaguchi ; Takashi Seto ; Mototsugu Shimokawa ; Yukito Ichinose
• 关键词：Small-cell lung cancer ; Oncogenic driver mutation ; EML4-ALK
• 刊名：Lung Cancer
• 出版年：2013
• 出版时间：September, 2013
• 年：2013
• 卷：81
• 期：3
• 页码：487-490
• 全文大小：1124 K

文摘

Anaplastic lymphoma kinase (ALK) fuses echinoderm microtubule-associated protein-like 4 (EML4) to acquire a transforming activity in lung adenocarcinomas. However, the presence of an EML4-ALK fusion gene in other lung cancer histologies is an extremely rare phenomenon. A 43-year-old female was referred to our department due to dyspnea on effort and left back pain. Computed tomography (CT) showed a large mass in the upper lobe of the left lung and a massive left pleural effusion, while a CT-guided needle biopsy confirmed a diagnosis of small-cell lung cancer (SCLC). Surprisingly, the tumor was genetically considered to harbor the EML4-ALK fusion gene (variant 2). Although the patient underwent two regimens of cytotoxic chemotherapy for SCLC, she died approximately seven months after the administration of first-line chemotherapy. Our analysis of 30 consecutive patients with SCLC for EML4-ALK revealed that two patients, including the current patient and a patient we previously reported, harbored the EML4-ALK fusion gene.