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Updated: Feb 10, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Clonally-related primary ALK rearranged adenocarcinoma and associated metastatic lesions
You-Cai Zhu1, Yun-Te Deng2, Wen-Xian Wang3
1Chest Disease Diagnosis and Treatment Center, Zhejiang Rongjun Hospital, Jiaxing, China.
Abstract:
ALK rearrangement is a driver gene in non-small cell lung cancer (NSCLC). ALK-positive tumors are sensitive to ALK-tyrosine kinase inhibitors (TKIs). The detection of key driver genes is crucial to enable personalized treatment. Different histomorphological patterns have different driver genes. Herein, we report the case of a 42-year-old male patient diagnosed with adenocarcinoma with different histomorphologies in the primary lung site (mucinous type) and lymph node metastasis (solid type), of the same genotype, both presenting with ALK rearrangement but negative for EGFR mutation. This histological heterogeneity did not necessarily indicate a genomic difference. Genomic analysis may be a supplement to the histological features of ALK-rearranged tumors. These gene alterations could aid the choice of an appropriate TKI and predict therapeutic response.
Insights
Anaplastic lymphoma kinase (ALK) rearrangement drives non-small cell lung cancer (NSCLC). Histological differences in tumors did not alter the ALK genotype, guiding personalized TKI therapy.
Area of Science:
- Oncology
- Genetics
- Personalized Medicine
Background:
- Anaplastic lymphoma kinase (ALK) rearrangement is a key driver in non-small cell lung cancer (NSCLC).
- ALK-positive NSCLC exhibits sensitivity to ALK-tyrosine kinase inhibitors (TKIs).
- Accurate detection of driver gene alterations is essential for tailoring cancer treatments.
Observation:
- A 42-year-old male patient presented with adenocarcinoma featuring diverse histomorphologies: mucinous type in the primary lung tumor and solid type in lymph node metastasis.
- Genomic analysis revealed ALK rearrangement in both tumor types, with no EGFR mutation detected.
- Despite distinct histological patterns, the underlying genotype remained consistent.
Findings:
- Histological heterogeneity between primary and metastatic sites does not always signify genomic divergence.
- Genomic profiling complements histological assessment in identifying ALK-rearranged lung adenocarcinomas.
- Consistent ALK rearrangement across different histomorphologies supports a unified diagnostic and therapeutic approach.
Implications:
- Genomic analysis is crucial for identifying actionable targets like ALK rearrangements, irrespective of tumor histology.
- Understanding consistent genotypes in heterogeneous tumors aids in selecting appropriate TKIs for non-small cell lung cancer.
- This case highlights the importance of molecular testing in guiding personalized treatment strategies for NSCLC patients.
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