Abstract

Anaplastic lymphoma kinase (ALK) gene fusion is a classic driver mutation in non-small cell lung cancer (NSCLC); however, ALK double-fusion variants in NSCLC have rarely been reported. In this study, we reported a case with extremely uncommon ALK double-fusion variants. A 32-year-old female diagnosed with lung adenocarcinoma, who had developed multiple intrapulmonary and brain metastases, experienced worsening of her condition despite undergoing prior chemotherapy. Subsequent testing using next-generation sequencing (NGS) detected the presence of PLEKHA7-ALK and INPP5D-ALK double-fusion. The prescription of alectinib revealed potent efficacy and resulted in an increase in the survival rate. This case presented two uncommon and concomitant ALK fusion partners in NSCLC; more importantly, the INPP5D-ALK subtype has not been reported, therefore this study broadens the spectrum of ALK double-fusion variants and provides insight into the use of ALK inhibitors for the treatment of NSCLC in patients with double ALK fusions.

中文翻译：

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PLEKHA7-ALK 和 INPP5D-ALK 的同时双融合揭示了肺腺癌中良好的艾来替尼敏感性：病例报告和文献综述

摘要

间变性淋巴瘤激酶 ( ALK ) 基因融合是非小细胞肺癌 (NSCLC) 的典型驱动突变；然而， NSCLC 中ALK双融合变异的报道却很少。在这项研究中，我们报告了一个极其罕见的ALK双融合变异病例。一名 32 岁女性被诊断患有肺腺癌，已出现多发肺内和脑转移，尽管之前接受过化疗，但病情仍在恶化。随后使用下一代测序 (NGS) 进行的测试检测到PLEKHA7-ALK和INPP5D-ALK双融合的存在。艾乐替尼处方显示出强大的功效并提高了生存率。该病例在 NSCLC 中呈现出两种罕见且同时存在的ALK融合伴侣；更重要的是，INPP5D-ALK亚型尚未被报道，因此本研究拓宽了ALK双融合变异体的谱，并为使用ALK抑制剂治疗双ALK融合患者的NSCLC提供了深入的见解。