Lung Adenocarcinoma Expressing an EML4‐ALK Fusion Transcript With Premature Stop Codons and Response to Alectinib: A Case Report.
ALK fusions are well‐established oncogenic drivers in lung cancer, typically resulting in ALK activation through dimerization mediated by partner proteins. However, alternative mechanisms of ALK activation have also been reported. We herein report an 80‐year‐old man with metastatic lung adenocarcino...
| Publicado en: | Thoracic Cancer Vol. 16; no. 15; pp. 1 - 5 |
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| Autores principales: | , , , , , , , , , , , |
| Formato: | case study diagnostic images pictorial tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Aug2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=187391066&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 187391066 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 17597706 BDCY jtl: Thoracic Cancer issn: 17597706 maglogo: Y pubinfo: dt: Aug2025 vid: 16 iid: 15 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 187391066 187391066 187391066 10.1111/1759-7714.70146 187391066 ppf: 1 ppct: 4 formats: tig: atl: Lung Adenocarcinoma Expressing an EML4‐ALK Fusion Transcript With Premature Stop Codons and Response to Alectinib: A Case Report. aug: au: Ozaki, Mami Ikushima, Hiroaki Suzuki, Masaki Yokoyama, Akira Fukuda, Kensuke Watanabe, Kousuke Shinozaki‐Ushiku, Aya Kato, Motohiro Ushiku, Tetsuo Aburatani, Hiroyuki Oda, Katsutoshi Kage, Hidenori affil: Department of Respiratory Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan sug: subj: Adenocarcinoma of Lung Familial and Genetic Anaplastic Lymphoma Kinase Proteins Mutation Adenocarcinoma of Lung Diagnosis Adenocarcinoma of Lung Drug Therapy Antineoplastic Agents Administration and Dosage Tyrosine Kinase Inhibitors Administration and Dosage Treatment Outcomes Male Aged, 80 and Over Japan Genetic Screening Sequence Analysis Tumor Markers, Biological Drug Effects Gene Expression Profiling Immunohistochemistry Radiography, Thoracic Positron Emission Tomography Computed Tomography Biopsy Aged, 80 & over Male ab: ALK fusions are well‐established oncogenic drivers in lung cancer, typically resulting in ALK activation through dimerization mediated by partner proteins. However, alternative mechanisms of ALK activation have also been reported. We herein report an 80‐year‐old man with metastatic lung adenocarcinoma, who initially tested negative for ALK rearrangement using a polymerase chain reaction‐based assay. RNA‐based hybrid capture targeted sequencing later identified an EML4‐ALK fusion transcript in which EML4 exon 15 and ALK intron 19 were fused. This resulted in a stop codon being retained in the unspliced ALK intron 19, preventing fusion protein translation. However, immunohistochemistry revealed overexpression of ALK, suggesting the existence of alternative translation initiation sites in exon 20 or downstream. The patient showed a marked response to alectinib therapy. This case underscores the importance of using multiple methods to detect actionable gene fusions and to ensure appropriate targeted therapy selection. pubtype: Academic Journal doctype: case study diagnostic images pictorial tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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