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Updated: Sep 26, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
A novel alectinib-sensitive CTNND1-ALK fusion in a lung adenocarcinoma patient: a case report
Xiang Tian1, Qiong Liao2, Qidong Yang3
1Department of Cardiothoracic Surgery, Panzhihua Central Hospital, 617000, Panzhihua, China.
Abstract:
Genomic fusions of anaplastic lymphoma kinase (ALK) are a well-established therapeutic target in non-small-cell lung cancer (NSCLC). Although various ALK fusion variants have been identified in NSCLC, their responses to ALK tyrosine-kinase inhibitors (TKIs) are heterogeneous. We report the case of a 71-year-old female patient diagnosed with lung adenocarcinoma with liver metastases. A novel CTNND1 (exon 14)-ALK (exon 20) fusion was identified from the biopsy sample by next-generation sequencing (NGS) and validated by immunohistochemistry (IHC) staining. Alectinib was administered, and the patient soon achieved partial response (PR). The progression-free survival (PFS) exceeded 15 months as of January 25, 2022. Our findings expand the spectrum of ALK rearrangements and provide a potential treatment option for lung adenocarcinoma patients with CTNND1-ALK fusions.
Insights
A novel CTNND1-ALK gene fusion was found in lung adenocarcinoma. Treatment with alectinib resulted in a partial response, demonstrating its potential for patients with this rare ALK rearrangement.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Anaplastic lymphoma kinase (ALK) gene fusions are key targets in non-small-cell lung cancer (NSCLC).
- Patient responses to ALK tyrosine-kinase inhibitors (TKIs) can vary significantly depending on the specific fusion.
- Identifying novel ALK rearrangements is crucial for expanding treatment options.
Observation:
- A 71-year-old female patient with lung adenocarcinoma and liver metastases was studied.
- Next-generation sequencing (NGS) identified a previously undocumented CTNND1 (exon 14)-ALK (exon 20) fusion.
- Immunohistochemistry (IHC) confirmed the presence of this novel fusion.
Findings:
- The patient received alectinib, an ALK TKI.
- Alectinib treatment led to a partial response (PR).
- Progression-free survival (PFS) surpassed 15 months.
Implications:
- This case expands the known spectrum of ALK rearrangements in lung adenocarcinoma.
- The CTNND1-ALK fusion represents a new actionable target for NSCLC.
- Alectinib shows efficacy against this novel fusion, offering a potential therapeutic strategy.
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