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Partial Response to Treatment with ALK Inhibitor in a Patient With SQSTM1-ALK Fusion Positive Lung Adenocarcinoma.

Authors :
Rodriguez Arroyo BP
Mondragón-Cardona A
Pacheco-Orozco RA
Tamayo A
Moreno JC
Baena-Valencia JC
Source :
European journal of case reports in internal medicine [Eur J Case Rep Intern Med] 2024 Nov 15; Vol. 11 (12), pp. 004887. Date of Electronic Publication: 2024 Nov 15 (Print Publication: 2024).
Publication Year :
2024

Abstract

Introduction: Lung cancer is the second most common cancer worldwide and the leading cause of cancer deaths; non-small cell lung cancer (NSCLC) constitutes about 85% of lung cancer cases, with ALK fusions representing 3-6% of them. The SQSTM1-ALK fusion is a rare finding in NSCLC, accounting for only 1.1% of ALK rearrangements. We present a case of lung adenocarcinoma with documentation of SQSTM1-ALK fusion that showed a partial response to alectinib.<br />Case Description: This case details the clinical course of a 71-year-old, non-smoking woman with no significant medical history who presented with confusion, aphasia and multiple cerebral lesions detected on imaging. Further investigations revealed a stage IV lung adenocarcinoma with metastases to the brain and adrenal gland. Molecular profiling identified a rare SQSTM1-ALK fusion mutation alongside other genetic abnormalities, including low programmed death-ligand 1 expression and ROS1 kinase protein presence. Treatment with alectinib, initiated based on the identified ALK fusion, resulted in significant tumour regression in the lungs and complete resolution of the adrenal mass, as evidenced by follow-up imaging and clinical assessments.<br />Conclusion: This case highlights the efficacy of alectinib in treating rare ALK fusion variants in and underscores the importance of comprehensive molecular profiling in guiding targeted therapy decisions.<br />Learning Points: Recognition of rare ALK fusions This case highlights the importance of identifying rare ALK fusions, such as SQSTM1-ALK, in non-small cell lung cancer (NSCLC), which can guide personalised treatment strategies. Utility of advanced molecular diagnostics The use of next-generation sequencing alongside immunohistochemistry is crucial for accurately detecting ALK and ROS1 rearrangements, avoiding false positives and enabling the identification of druggable mutations. Impact of personalised medicine This case reinforces the value of personalised medicine in NSCLC, where molecular profiling can uncover unique genetic alterations, allowing for more tailored and potentially more effective treatments.<br />Competing Interests: Conflicts of Interests: The authors declare that there are no conflicts of interest associated with the publication of this case report. All authors have no financial or personal relationships that could influence or bias the content of this manuscript. This case report received no specific funding from any funding agency, commercial entity or other external sources.<br /> (© EFIM 2024.)

Details

Language :
English
ISSN :
2284-2594
Volume :
11
Issue :
12
Database :
MEDLINE
Journal :
European journal of case reports in internal medicine
Publication Type :
Academic Journal
Accession number :
39651381
Full Text :
https://doi.org/10.12890/2024_004887