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Updated: May 11, 2026
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
EML4-ALK translocation in both metachronous second primary lung sarcomatoid carcinoma and lung adenocarcinoma: a case
Greta Alì1, Agnese Proietti, Cristina Niccoli
1Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Pisana, Pisa, Italy.
Abstract:
The EML4-ALK gene translocation was described in a non small cell lung cancer (NSCLC) subset, with a potent oncogenic activity. It represents one of the newest molecular targets in NSCLC. We report on the case of a metachronous second primary lung sarcomatoid carcinoma after resection of lung adenocarcinoma both with ALK translocation, in a non-smoking patient. EML4-ALK rearrangement was detected with immunohistochemistry and confirmed with fluorescent in situ hybridization (FISH). To assess the clonal relationship between the two tumors, both adenocarcinoma and sarcomatoid carcinoma were analyzed by array comparative genomic hybridization (aCGH). We observed different genomic profiles suggesting that the tumors arose independently and were thus multiple primaries. To the best of our knowledge, this is the first report concerning the presence of the EML4-ALK fusion gene in a sarcomatoid carcinoma of the lung. Crizotinib, the ALK tyrosine kinase inhibitor, is highly effective in ALK-rearranged NSCLC; therefore, it may be imperative to identify all NSCLC that harbor ALK translocations in the near future. Starting from our evidence, tumors with sarcomatoid histology may need to be screened for the presence of EML4-ALK rearrangement.
Insights
This case study reports a non-smoking patient with two independent lung cancers, both featuring the EML4-ALK gene rearrangement. The findings suggest sarcomatoid lung tumors should be screened for this specific genetic alteration.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The EML4-ALK gene translocation is a key oncogenic driver in a subset of non-small cell lung cancer (NSCLC).
- ALK rearrangements represent a significant molecular target for novel therapies in NSCLC.
- Sarcomatoid carcinoma is a rare histologic subtype of lung cancer.
Observation:
- A case study of a non-smoking patient presenting with metachronous primary lung cancers: adenocarcinoma and sarcomatoid carcinoma.
- Both tumors exhibited the EML4-ALK gene translocation, confirmed by immunohistochemistry and fluorescence in situ hybridization (FISH).
Findings:
- Array comparative genomic hybridization (aCGH) revealed distinct genomic profiles for both tumors, indicating independent origins (multiple primaries).
- This is the first documented instance of the EML4-ALK fusion gene in pulmonary sarcomatoid carcinoma.
Implications:
- The findings suggest that sarcomatoid histology in lung cancer may warrant screening for EML4-ALK rearrangements.
- Identifying ALK translocations is crucial for effective treatment with ALK inhibitors like crizotinib, potentially expanding therapeutic options for diverse NSCLC subtypes.
