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Partial Response to Crizotinib in a Lung Adenocarcinoma Patient with a Novel FBXO11 (Intergenic)-ALK (Exon 20-29)
Jing He1, Youyuan Yao1, Fei Quan2
1Medical Oncology Department, Jiangsu Province Hospital, Nanjing, Jiangsu, 210029, People's Republic of China.
Abstract:
Intergenic-gene fusion detected by DNA-seq is particularly confusing for drug selection since the function of the intergenic region located upstream is unknown. We reported a case of a 49-year-old male with advanced lung adenocarcinoma, who was detected FBXO11 (intergenic)-ALK (exon 20-29) by DNA-seq, and FISH analysis revealed a positive result. The patient was treated with crizotinib and achieved a PR. The canonical EML4 (exon 1-13)-ALK (exon 20-29) fusion verified by RNA-seq suggested a complex EML4 (exon 1-13)-FBXO11 (intergenic)-ALK (exon 20-29) tripartite rearrangement at the DNA level. Our case emphasized the necessity of RNA-seq for verifying intergenic-gene fusion. Simultaneously, the pathogenic germline SLX4 variant and extensive CNVs of DNA segment were detected by DNA-seq deserves our attention.
Insights
Detecting intergenic-gene fusions like FBXO11-ALK in lung cancer requires RNA-seq for accurate drug selection. This case highlights RNA-seq
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Intergenic-gene fusions detected by DNA sequencing can complicate targeted therapy selection due to unknown intergenic region functions.
- Anaplastic Lymphoma Kinase (ALK) rearrangements are key drivers in a subset of lung adenocarcinomas.
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