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Updated: Mar 13, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[Driven Gene in Patients with Lung Squamous Cell Carcinoma: Analysis of Clinicopathologic Characteristics and
1National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
Background:
It has been proven that epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), and KRAS are common driver genes in non-small cell lung cancer (NSCLC). Molecular targeted therapy increases the overall response rate and progression-free survival (PFS) of patients with EGFR-sensitive mutation or echinoderm microtubule-associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) fusion. However, target and targeted drugs for lung squamous cell carcinoma to indicate clinical therapy remain to be confirmed. The aim of this study was to analyze the relationship between the status of driver genes and the clinicopathologic characteristics of NSCLC.
Methods:
A total of 90 patients were recruited and tested for EGFR, ALK and KRAS mutations. The status of EGFR and KRAS was tested by amplification refractory mutation system, and the status of ALK was tested by fluorescence in situ hybridization.
Results:
Of the 90 patients, 8 patients had EGFR mutation (8.8%), and 2 cases had KRAS mutation (2.2%). EML4-ALK fusion was found in 1 of 18 patients (5.6%). EGFR mutation occurred more frequently in females than in males (P=0.022). Significant differences were observed in pathological stage (P=0.042) and differentiation grade (P=0.003). No significant difference in PFS was observed between EGFR-TKI treatment and chemotherapy in EGFR mutation patients with squamous cell carcinoma of the lung (P=0.607). Patients with EML4-ALK fusion could benefit from targeted therapy.
Conclusions:
EML4-ALK fusion occurred more frequently than EGFR and KRAS mutations in patients with lung squamous cell carcinoma. Clinicopathologic characteristics were different between EGFR mutation and EGFR wild-type patients. The relationship between molecular targeted therapy and status of EGFR or ALK genes in patients with lung squamous cell carcinoma needs further investigation.
Insights
Anaplastic lymphoma kinase (ALK) fusions are more common than EGFR or KRAS mutations in lung squamous cell carcinoma. Clinicopathologic features differ between EGFR mutation and wild-type patients, requiring further study on targeted therapies.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Non-small cell lung cancer (NSCLC) treatment benefits from targeting common driver genes like epidermal growth factor receptor (EGFR) and echinoderm microtubule-associated protein like 4-anaplastic lymphoma kinase (EML4-ALK).
- However, specific targets and therapies for lung squamous cell carcinoma (LSCC) remain underexplored.
- This study investigates the relationship between driver gene status and clinicopathologic characteristics in NSCLC.
Purpose of the Study:
- To analyze the prevalence of EGFR, ALK, and KRAS mutations in NSCLC.
- To examine the association between driver gene status and clinicopathologic features in NSCLC patients.
- To evaluate the potential of targeted therapies in LSCC based on driver gene status.
Main Methods:
- Ninety NSCLC patients were analyzed for EGFR, ALK, and KRAS mutations.
- EGFR and KRAS mutations were detected using amplification refractory mutation system (ARMS).
- EML4-ALK fusion was identified via fluorescence in situ hybridization (FISH).
Main Results:
- EGFR mutations were found in 8.8% of patients, KRAS mutations in 2.2%, and EML4-ALK fusion in 5.6% of tested patients.
- EGFR mutations were more prevalent in females (P=0.022) and associated with differences in pathological stage (P=0.042) and differentiation grade (P=0.003).
- No significant difference in progression-free survival (PFS) was observed between EGFR-TKI and chemotherapy in EGFR-mutated LSCC patients (P=0.607), but EML4-ALK fusion patients may benefit from targeted therapy.
Conclusions:
- EML4-ALK fusion is more frequent than EGFR and KRAS mutations in LSCC.
- Clinicopathologic characteristics differ between EGFR-mutated and EGFR wild-type NSCLC patients.
- Further research is needed to clarify the role of targeted therapies for EGFR and ALK in LSCC.
