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Ref Type
PMID (33776709)
Authors Hsiao SY, He HL, Weng TS, Lin CY, Chao CM, Huang WT, Tsao CJ
Title Colorectal Cancer with EML4-ALK Fusion Gene Response to Alectinib: A Case Report and Review of the Literature.
Abstract Text Anti-epithelial growth factor receptor or anti-vascular endothelial growth factor agents combined with chemotherapy were the standard of treatment for metastatic colorectal cancer (CRC). However, increasing evidence of molecularly stratified treatment makes the complexity of treatment. Anaplastic lymphoma kinase (ALK) gene alternation is one of potential target for biomarker-guided therapy for CRC. We present a case of a 56-year-old man who suffered from advanced ascending colon cancer, harboring echinoderm microtubule associated protein-like 4 (EML4)-ALK fusion gene E21; A20 variant, a rare variant in EML4-ALK fusion gene in lung cancer. We also detected this fusion gene from different tissue types including circulating tumor DNA (ctDNA) and ascites fluid. The patient was offered alectinib, an ALK inhibitor, with partial response in lung, liver, and peritoneal metastasis for 8 months. Tumor heterogeneity, especially in gastrointestinal tract cancer, raise our interest in comprehensive genetic profiling in clinical practice. Convenience and reliability of next-generation sequencing, including using ctDNA, help physicians deal with clinical dilemma. ALK-positive CRC is rare. However, advanced CRC with ALK gene alteration responds to ALK inhibitor. It is reasonable to check ALK gene alteration in clinical practice for CRC.


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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
ALK L1319V missense unknown ALK L1319V lies within the protein kinase domain of the Alk protein ( L1319V has been identified in the scientific literature (PMID: 33776709), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2023).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
EML4 - ALK colon adenocarcinoma predicted - sensitive Alectinib Case Reports/Case Series Actionable In a clinical case study, Alecensa (alectinib) treatment resulted in clinical improvement after 1 month and a partial response lasting 8 months in a patient with colon adenocarcinoma harboring EML4-ALK (PMID: 33776709). 33776709
EML4 - ALK ALK L1319V colon adenocarcinoma predicted - resistant Alectinib Case Reports/Case Series Actionable In a clinical case study, a patient with colon adenocarcinoma harboring EML4-ALK developed progressive disease after 8 months of Alecensa (alectinib) treatment, acquisition of ALK L1319V, KRAS amplification, KRAS Q61H, and NF1 Q20* were identified in post-progression biopsies (PMID: 33776709). 33776709