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Published on: August 4, 2016
Identification of a novel RSRC1-ALK (R6: A20) fusion using next-generation sequencing technique
Jingjing Xia1, Sheng Chen2, Zhujian Zhang3
1Department of Medical Examination, Huai'an First People's Hospital, Nanjing Medical University, Huai'an 223300, PR China.
Abstract:
Non-small-cell lung cancer (NSCLC) patients with anaplastic lymphoma kinase (ALK) fusion showed promising responses to ALK tyrosine kinase inhibitors (TKIs). In this study, fluorescence in situ hybridization (FISH), immunohistochemistry (IHC), next generation sequencing (NGS) and Sanger sequencing were performed to identify the presence of ALK fusion, to investigate whether the patient may benefit from TKI therapy. Postoperative pathological analysis indicated invasive adenocarcinoma with mainly mucinous type and partial micropapillary type in left lower lung. Minimally invasive adenocarcinoma was seen in left upper lung, with mainly acinar type. NGS detected a novel RSRC1-ALK (R6: A20) fusion in left lower lobe sample, which was presented as the fusion of exon 6 of RSRC1 and exon 20 of ALK gene. Sanger sequencing validated the fusion. Break rearrangement signal of ALK gene was detected in 80% of tumor cells. Immunohistochemistry showed ALK positive expression in lung. For the treatment, the patient received ensartinib hydrochloride with a dose of 225 mg per day. He was in a state of progression-free survival for at least 24 months in follow-up with no complications. NGS can be used for exploring treatment options for NSCLC patients with ALK fusion.
Insights
Next-generation sequencing identified a novel RSRC1-ALK fusion in non-small-cell lung cancer (NSCLC). This discovery led to targeted therapy with ensartinib, achieving over 24 months of progression-free survival.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Anaplastic lymphoma kinase (ALK) fusion is a key driver mutation in non-small-cell lung cancer (NSCLC).
- ALK tyrosine kinase inhibitors (TKIs) offer effective treatment for NSCLC patients with ALK fusions.
- Accurate detection of ALK fusions is crucial for guiding TKI therapy selection.
Purpose of the Study:
- To identify ALK fusion in a patient with non-small-cell lung cancer (NSCLC).
- To investigate the potential benefit of tyrosine kinase inhibitor (TKI) therapy.
- To report a novel RSRC1-ALK fusion and its clinical implications.
Main Methods:
- Fluorescence in situ hybridization (FISH), immunohistochemistry (IHC), and next-generation sequencing (NGS) were employed.
- NGS detected a novel RSRC1-ALK (R6: A20) fusion.
- Sanger sequencing confirmed the ALK gene rearrangement, present in 80% of tumor cells.
Main Results:
- Postoperative pathological analysis revealed invasive and minimally invasive adenocarcinoma.
- A novel RSRC1-ALK fusion (exon 6 of RSRC1 and exon 20 of ALK) was identified by NGS.
- Immunohistochemistry confirmed ALK-positive expression, and the patient achieved over 24 months of progression-free survival on ensartinib.
Conclusions:
- Next-generation sequencing is a valuable tool for identifying novel ALK fusions in NSCLC.
- Targeted therapy with ensartinib demonstrated significant efficacy in a patient with the RSRC1-ALK fusion.
- Early detection and targeted treatment of ALK fusions improve outcomes for NSCLC patients.
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