Case Report: A novel ELMOD3-ALK and EML4-ALK double-fusion responses to neoadjuvant alectinib in a lung adenocarcinoma patient

BackgroundAnaplastic lymphoma kinase (ALK) rearrangements account for approximately 3%–5% of non-small cell lung cancer (NSCLC), and the echinoderm microtubule-associated protein-like 4 gene (EML4) and ALK fusion (EML4-ALK) is the most common ALK rearrangement in NSCLC patients. However, double-ALK...

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Main Authors: Kaili Huang, Wen Li, Yinyin Xue, Lei Peng, Qiang Wu, Qinghua Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Pharmacology
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Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2025.1515826/full
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author Kaili Huang
Kaili Huang
Wen Li
Wen Li
Yinyin Xue
Yinyin Xue
Lei Peng
Lei Peng
Qiang Wu
Qiang Wu
Qinghua Zhou
Qinghua Zhou
author_facet Kaili Huang
Kaili Huang
Wen Li
Wen Li
Yinyin Xue
Yinyin Xue
Lei Peng
Lei Peng
Qiang Wu
Qiang Wu
Qinghua Zhou
Qinghua Zhou
author_sort Kaili Huang
collection DOAJ
description BackgroundAnaplastic lymphoma kinase (ALK) rearrangements account for approximately 3%–5% of non-small cell lung cancer (NSCLC), and the echinoderm microtubule-associated protein-like 4 gene (EML4) and ALK fusion (EML4-ALK) is the most common ALK rearrangement in NSCLC patients. However, double-ALK fusion is extremely rare in clinical practice. Herein, we first report a lung adenocarcinoma patient with the coexistence of a novel subfamily 3 of ELMOD (ELMOD3)-ALK, EML4-ALK double fusion that is sensitive to alectinib target therapy.Materials and methodsHematoxylin–eosin (H&E) staining, immunohistochemistry (IHC), and next-generation sequencing (NGS) were performed on biopsy samples.ResultsThe IHC analysis confirmed positive expression of ALK protein. NGS revealed a novel ELMOD3-ALK and EML4-ALK double fusion. The patient was sensitive to alectinib as neoadjuvant therapy and achieved a major pathological response (MPR), which was confirmed by the postoperative pathology diagnosis. To date, the patients’ disease-free survival (DFS) has exceeded 4 years without any significant symptoms of toxicity.ConclusionThis is the first report of one lung adenocarcinoma patient with a novel ELMOD3-ALK, EML4-ALK double-ALK fusion. This double-ALK fusion variant is sensitive to alectinib, suggesting patients with an ELMOD3-ALK, EML4-ALK double-ALK fusion could achieve clinical survival benefit from alectinib.
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spelling doaj-art-d0eeb01352c74cdc9a73de42599da6ff2025-08-20T02:12:10ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122025-04-011610.3389/fphar.2025.15158261515826Case Report: A novel ELMOD3-ALK and EML4-ALK double-fusion responses to neoadjuvant alectinib in a lung adenocarcinoma patientKaili Huang0Kaili Huang1Wen Li2Wen Li3Yinyin Xue4Yinyin Xue5Lei Peng6Lei Peng7Qiang Wu8Qiang Wu9Qinghua Zhou10Qinghua Zhou11Lung Cancer Center and Institute, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Thoracic Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaLung Cancer Center and Institute, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Medical Oncology, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaLung Cancer Center and Institute, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Radiation Oncology, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaLung Cancer Center and Institute, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Thoracic Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaLung Cancer Center and Institute, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Radiation Oncology, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaLung Cancer Center and Institute, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Thoracic Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaBackgroundAnaplastic lymphoma kinase (ALK) rearrangements account for approximately 3%–5% of non-small cell lung cancer (NSCLC), and the echinoderm microtubule-associated protein-like 4 gene (EML4) and ALK fusion (EML4-ALK) is the most common ALK rearrangement in NSCLC patients. However, double-ALK fusion is extremely rare in clinical practice. Herein, we first report a lung adenocarcinoma patient with the coexistence of a novel subfamily 3 of ELMOD (ELMOD3)-ALK, EML4-ALK double fusion that is sensitive to alectinib target therapy.Materials and methodsHematoxylin–eosin (H&E) staining, immunohistochemistry (IHC), and next-generation sequencing (NGS) were performed on biopsy samples.ResultsThe IHC analysis confirmed positive expression of ALK protein. NGS revealed a novel ELMOD3-ALK and EML4-ALK double fusion. The patient was sensitive to alectinib as neoadjuvant therapy and achieved a major pathological response (MPR), which was confirmed by the postoperative pathology diagnosis. To date, the patients’ disease-free survival (DFS) has exceeded 4 years without any significant symptoms of toxicity.ConclusionThis is the first report of one lung adenocarcinoma patient with a novel ELMOD3-ALK, EML4-ALK double-ALK fusion. This double-ALK fusion variant is sensitive to alectinib, suggesting patients with an ELMOD3-ALK, EML4-ALK double-ALK fusion could achieve clinical survival benefit from alectinib.https://www.frontiersin.org/articles/10.3389/fphar.2025.1515826/fulllung adenocarcinomaALKELMOD3double fusionneoadjuvant alectinib
spellingShingle Kaili Huang
Kaili Huang
Wen Li
Wen Li
Yinyin Xue
Yinyin Xue
Lei Peng
Lei Peng
Qiang Wu
Qiang Wu
Qinghua Zhou
Qinghua Zhou
Case Report: A novel ELMOD3-ALK and EML4-ALK double-fusion responses to neoadjuvant alectinib in a lung adenocarcinoma patient
Frontiers in Pharmacology
lung adenocarcinoma
ALK
ELMOD3
double fusion
neoadjuvant alectinib
title Case Report: A novel ELMOD3-ALK and EML4-ALK double-fusion responses to neoadjuvant alectinib in a lung adenocarcinoma patient
title_full Case Report: A novel ELMOD3-ALK and EML4-ALK double-fusion responses to neoadjuvant alectinib in a lung adenocarcinoma patient
title_fullStr Case Report: A novel ELMOD3-ALK and EML4-ALK double-fusion responses to neoadjuvant alectinib in a lung adenocarcinoma patient
title_full_unstemmed Case Report: A novel ELMOD3-ALK and EML4-ALK double-fusion responses to neoadjuvant alectinib in a lung adenocarcinoma patient
title_short Case Report: A novel ELMOD3-ALK and EML4-ALK double-fusion responses to neoadjuvant alectinib in a lung adenocarcinoma patient
title_sort case report a novel elmod3 alk and eml4 alk double fusion responses to neoadjuvant alectinib in a lung adenocarcinoma patient
topic lung adenocarcinoma
ALK
ELMOD3
double fusion
neoadjuvant alectinib
url https://www.frontiersin.org/articles/10.3389/fphar.2025.1515826/full
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