Department of Oncology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine.
Department of Oncology, Guangdong Provincial Hospital of Traditional Chinese Medicine.
J Natl Compr Canc Netw. 2021 Nov 11;20(1):2-6. doi: 10.6004/jnccn.2021.7077.
More than 20 types of ALK fusion variant subtypes have been identified, including different fusion partner genes or EML4-ALK fusions with different breakpoints. However, different ALK fusions show different sensitivities to ALK-tyrosine kinase inhibitors (ALK-TKIs) and the emergence of rare fusions brings great challenges to the target therapy in clinic. We report a rare EML4-ALK (E6;A18) fusion in a patient with lung adenocarcinoma that responded well to alectinib. This is the second case of this rare variant reported but the first report of response to an ALK-TKI. This evidence is the first to show that alectinib may be effective for this rare fusion type of non-small cell lung cancer, and these findings have important implications for drug selection in patients with this subtype. Further studies are needed to understand the function of this variant.
已经鉴定出超过 20 种 ALK 融合变体亚型，包括不同的融合伙伴基因或 EML4-ALK 融合具有不同的断点。然而，不同的 ALK 融合对 ALK-酪氨酸激酶抑制剂 (ALK-TKIs) 的敏感性不同，罕见融合的出现给临床靶向治疗带来了巨大挑战。我们报告了一例肺腺癌中罕见的 EML4-ALK（E6;A18）融合，该融合对阿来替尼反应良好。这是第二种报道的罕见变体，但却是首例对 ALK-TKI 有反应的报道。这一证据首次表明阿来替尼可能对这种罕见的非小细胞肺癌融合类型有效，这些发现对该亚型患者的药物选择具有重要意义。需要进一步的研究来了解这种变体的功能。
