inv(2)(p21p23) EML4/ALK

2018-01-01   Jean-Loup Huret , Philippe Dessen 

Clinics and Pathology


Acute lymphoblastic leukemia/lymphoblastic lymphoma|Chronic lymphocytic leukemia|Diffuse large B-cell lymphoma|Follicular lymphoma|Hodgkin disease, NOS|Nonneoplastic hematologic disorder/lesion|Peripheral T-cell lymphoma, unspecified

Genes Involved and Proteins

Gene name
Gene name

Highly cited references

Pubmed IDYearTitleCitations
356665002022Association of Driver Oncogene Variations With Outcomes in Patients With Locally Advanced Non-Small Cell Lung Cancer Treated With Chemoradiation and Consolidative Durvalumab.0
356609712022Efficacy and safety of lorlatinib in Asian and non-Asian patients with ALK-positive advanced non-small cell lung cancer: Subgroup analysis of a global phase 2 trial.0
356566942022EML4-ALK Variant 3 Promotes Mitotic Errors and Spindle Assembly Checkpoint Deficiency Leading to Increased Microtubule Poison Sensitivity.0
356466852022A Combination of Cytokine-Induced Killer Cells With PD-1 Blockade and ALK Inhibitor Showed Substantial Intrinsic Variability Across Non-Small Cell Lung Cancer Cell Lines.0
356460962022Characteristics of Genomic Alterations in Pericardial Effusion of Advanced Non-small Cell Lung Cancer.0
356420022022Role of chemokine-mediated angiogenesis in resistance towards crizotinib and its reversal by anlotinib in EML4-ALK positive NSCLC.0
356259582022Wide Next-Generation Sequencing Characterization of Young Adults Non-Small-Cell Lung Cancer Patients.0
356243602022Detecting anaplastic lymphoma kinase (ALK) gene rearrangements with next-generation sequencing remains a reliable approach in patients with non-small-cell lung cancer.0
356160902022Alectinib versus crizotinib in ALK-positive advanced non-small cell lung cancer and comparison of next-generation TKIs after crizotinib failure: Real-world evidence.0
355799892022Special issue "The advance of solid tumor research in China": Real-world clinical outcomes of alectinib for advanced nonsmall-cell lung cancer patients with ALK fusion in China.0
353486732022ALK-Fusion Transcripts Can Be Detected in Extracellular Vesicles (EVs) from Nonsmall Cell Lung Cancer Cell Lines and Patient Plasma: Toward EV-Based Noninvasive Testing.0
354650422022Treatment strategy, overall survival and associated risk factors among patients with unresectable stage IIIB/IV non-small cell lung cancer in China (2015-2017): A multicentre prospective study.0
352358722022Dramatic response to brigatinib in a lung adenocarcinoma patient harboring EML4-ALK fusion and a G1202R de novo gene mutation.0
351500662022ALK-rearranged lung adenocarcinoma resistant to alectinib with cauliflower gingival metastasis responds to brigatinib.1
353054012022Characterizing kinase intergenic-breakpoint rearrangements in a large-scale lung cancer population and real-world clinical outcomes.0
350857712022EML4-ALK G1202R mutation induces EMT and confers resistance to ceritinib in NSCLC cells via activation of STAT3/Slug signaling.0
350582822022Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report.0
346874882022Clinicopathological features and resistance mechanisms in HIP1-ALK-rearranged lung cancer: A multicenter study.0
353135282022A Novel LOC101927967 Intergenic Region ALK Fusion Identified by NGS and Validated by IHC and FISH in a Patient with Early Stage Adenocarcinoma of Lung.0
350747002022Malignant pleural mesothelioma with an EML4-ALK fusion: Expect the unexpected!0
309208582022First-line treatment of advanced non-small cell lung cancer with ALK rearrangement: state of the art and future development.0
354334112022Effective Systemic Treatment of Choroidal Metastases NSCLC With Surgery After Crizotinib: A Case Report.0
353286642022Clinicopathological and Molecular Features of Secondary Cancer (Metastasis) to the Thyroid and Advances in Management.1
353282822022Analytic and Clinical Validation of a Pan-Cancer NGS Liquid Biopsy Test for the Detection of Copy Number Amplifications, Fusions and Exon Skipping Variants.0
352779562022Reassessing pharmacogenomic cell sensitivity with multilevel statistical models.0
351953462022ALK inhibition as a salvage therapy for a relapsed unclassifiable sarcomatous CNS tumor with EML4/ALK fusion in an infant.0
351590462022A Polytherapy Strategy Using Vincristine and ALK Inhibitors to Sensitise EML4-ALK-Positive NSCLC.0
351446232022Concomitant novel ALK-SSH2, EML4-ALK and ARID2-ALK, EML4-ALK double-fusion variants and confer sensitivity to crizotinib in two lung adenocarcinoma patients, respectively.0
351232092022Real-world circulating tumor DNA analysis depicts resistance mechanism and clonal evolution in ALK inhibitor-treated lung adenocarcinoma patients.1
350742242022Targeting Alternative Splicing as Adjunctive Treatment in EML4-ALK v3a/b+ NSCLC: Knowing Our Socratic Paradox and Learning From Spinal Muscular Atrophy.1
345204362022Sensitivity of eight types of ALK fusion variant to alectinib in ALK-transformed cells.1
353505122022Atypical Lung Carcinoid With EML4/ALK Fusion Detected With Circulating Tumor DNA.0
352808682022Case Report: Early Distant Metastatic Inflammatory Myofibroblastic Tumor Harboring EML4-ALK Fusion Gene: Study of Two Typical Cases and Review of Literature.0
350421522022Final efficacy and safety data, and exploratory molecular profiling from the phase III ALUR study of alectinib versus chemotherapy in crizotinib-pretreated ALK-positive non-small-cell lung cancer.1
346268392022Deep RNA Sequencing Revealed Fusion Junctional Heterogeneity May Predict Crizotinib Treatment Efficacy in ALK-Rearranged NSCLC.0
349132832022Primary Tumor Suppression and Systemic Immune Activation of Macrophages through the Sting Pathway in Metastatic Skin Tumor.1
347271722022ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition.2
350966112021Comprehensive Comparative Molecular Characterization of Young and Old Lung Cancer Patients.0
350709862021Case Report: A Novel Non-Reciprocal ALK Fusion: ALK-GCA and EML4-ALK Were Identified in Lung Adenocarcinoma, Which May Respond to Alectinib Adjuvant-Targeted Therapy.0
349797502022[Anaplastic lymphoma kinase-translocation renal cell carcinoma: clinical and pathological analysis].0
348908322022Genetic landscape of patients with ALK-rearranged non-small-cell lung cancer (NSCLC) and response to ceritinib in ASCEND-1 study.0
348458362022A new ALK inhibitor overcomes resistance to first- and second-generation inhibitors in NSCLC.1
347836002022The impact of the ALK fusion variant on clinical outcomes in EML4-ALK patients with NSCLC: a systematic review and meta-analysis.2
346336542022F-circEA1 regulates cell proliferation and apoptosis through ALK downstream signaling pathway in non-small cell lung cancer.0
351724742021Development of an RNA sequencing panel to detect gene fusions in thyroid cancer.0
348876662021Efficacy and Drug Resistance Analysis of ALK Inhibitors in Combination with Stereotactic Body Radiation Therapy for Treating Lung Squamous Carcinoma Patient Harboring EML4-ALK Rearrangement.0
347631582021Coexistence of a novel NBEA-ALK, EML4-ALK double-fusion in a lung adenocarcinoma patient and response to alectinib: A case report.0
346613672021Phase-separated foci of EML4-ALK facilitate signalling and depend upon an active kinase conformation.2
345374402021Brigatinib Versus Crizotinib in ALK Inhibitor-Naive Advanced ALK-Positive NSCLC: Final Results of Phase 3 ALTA-1L Trial.8
343782832021An unusual fusion gene EML4-ALK in a patient with congenital mesoblastic nephroma.0
343739432021Crizotinib: aseptic abscesses in multiple organs during treatment of EML4-ALK-positive NSCLC.1
338259462021Localized ALK-positive histiocytosis in a Chinese woman: report of a case in the lung with a novel EML4-ALK rearrangement.3
349179922021Response to Icotinib Plus Chemotherapy in Pulmonary Atypical Carcinoid Harboring the EGFR L858R Mutation: A Brief Report.0
347633182021A Case of Lung Adenocarcinoma Response to Alectinib Harboring a Rare EML4-ALK Variant, Exon 6 of EML4 Fused to Exon 18 of ALK.0
347541972021Long-Term Survival After Salvage Thoracic Surgery on a Patient with ALK-Rearranged Metastatic Lung Adenocarcinoma After Progression on Targeted Therapy.0
338967292021A Case of Small Cell Lung Carcinoma Harboring an EML4-ALK Fusion with Partial Response to Crizotinib.0
348851372021Mad2 Induced Aneuploidy Contributes to Eml4-Alk Driven Lung Cancer by Generating an Immunosuppressive Environment.0
348040002021Case Report: Complete Response to Nivolumab in a Patient With Programmed Cell Death 1 Ligand 1-Positive and Multiple Gene-Driven Anaplastic Lymphoma Kinase Tyrosine Kinase Inhibitor-Resistant Lung Adenocarcinoma.0
342332402021Concomitance of a novel RMDN2-ALK fusion and an EML4-ALK fusion in a lung adenocarcinoma.0
348206412021Efficacy of Targeted Inhibitors in Metastatic Lung Squamous Cell Carcinoma With EGFR or ALK Alterations.2
346543902021Genetic and treatment profiles of patients with concurrent Epidermal Growth Factor Receptor (EGFR) and Anaplastic Lymphoma Kinase (ALK) mutations.0
344329202021Gastric mesenchymal tumor with smooth muscle differentiation and echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) fusion.0
343910652021Identification of a EML4-ALK exon 19 fusion variant in lung adenocarcinoma and alectinib resistance.0
344907272021A novel break site of EML4-ALK report and a rare PRKAR1A-ALK report analyzed by different ALK detection platforms in non-small cell lung cancer patients.1
342729142021One-Step Polymerase Chain Reaction-Free Nanowire-Based Plasma Cell-Free DNA Assay to Detect EML4-ALK Fusion and to Monitor Resistance in Lung Cancer.1
337298622021ALK-rearranged Renal Cell Carcinoma (RCC): A Report of 2 Cases and Review of the Literature Emphasizing the Distinction Between VCL-ALK and Non-VCL-ALK RCC.0
345523372021High Tumor Mutation Burden and DNA Repair Gene Mutations are Associated with Primary Resistance to Crizotinib in ALK-Rearranged Lung Cancer.0
342329392021Coexistence of a secondary STRN-ALK, EML4-ALK double-fusion variant in a lung adenocarcinoma patient with EGFR mutation: a case report.1
342319392021Identification of an EML4-ALK rearrangement in an intrahepatic cholangiocarcinoma.0
340580702021NGS-based liquid biopsy profiling identifies mechanisms of resistance to ALK inhibitors: a step toward personalized NSCLC treatment.5
346301262021LINC01001 Promotes Progression of Crizotinib-Resistant NSCLC by Modulating IGF2BP2/MYC Axis.0
345909162021A novel GHR-ALK fusion gene in a patient with metastatic lung adenocarcinoma and its response to crizotinib: a case report.0
345680532021ALK Rearrangement-Positive Pancreatic Cancer with Brain Metastasis Has Remarkable Response to ALK Inhibitors: A Case Report.1
345489102021Polyclonal on- and off-target resistance mutations in an EML4-ALK positive non-small cell lung cancer patient under ALK inhibition.0
345308492021Pathological cytomorphologic features and the percentage of ALK FISH-positive cells predict pulmonary adenocarcinoma prognosis: a prospective cohort study.0
345081692021Genomic characterization and outcome evaluation of kinome fusions in lung cancer revealed novel druggable fusions.1
345032362021The Role of Oncogenes and Redox Signaling in the Regulation of PD-L1 in Cancer.4
343247922021Dramatic response to alectinib in a patient with ALK-rearranged squamous cell lung cancer.1
335286382021The effect of EML4-ALK break-apart ratio on crizotinib outcomes in non-small cell lung cancer harboring EML4-ALK rearrangement.0
341755042021Going beneath the tip of the iceberg. Identifying and understanding EML4-ALK variants and TP53 mutations to optimize treatment of ALK fusion positive (ALK+) NSCLC.4
341597372021A patient with ALK-positive lung adenocarcinoma who survived alectinib-refractory postoperative recurrence for 4 years by switching to ceritinib.1
341302292021EML4-ALK fusion variant.3 and co-occurrent PIK3CA E542K mutation exhibiting primary resistance to three generations of ALK inhibitors.0
340198662021Identification of novel ALK fusions using DNA/RNA sequencing in immunohistochemistry / RT-PCR discordant NSCLC patients.2
342719212021Molecular characteristics and clinical outcomes of complex ALK rearrangements identified by next-generation sequencing in non-small cell lung cancers.2
334140522021Treatment of Non-Small-Cell Lung Cancer Based on Circulating Cell-Free DNA and Impact of Variation Allele Frequency.1
332415862021Spindle cell tumor with CD34 and S100 co-expression and distinctive stromal and perivascular hyalinization showing EML4-ALK fusion.0
343267462021Response to a Combination of Full-Dose Osimertinib and Ceritinib in a Non-Small Cell Lung Cancer Patient with EML4-ALK Rearrangement and Epidermal Growth Factor Receptor Co-Mutation.0
341330032021Detecting ALK Rearrangement with RT-PCR: A Reliable Approach Compared with Next-Generation Sequencing in Patients with NSCLC.0
338441102021Are all ALK variants created equal? Clinicopathologic features and outcomes: a propensity-matched study.1
338322822021A rare KIF5B-ALK fusion variant in a lung adenocarcinoma patient who responded to crizotinib and acquired the ALK L1196M mutation after resistance: a case report.0
336942612021Observed progression from melanosis with melanocyte hyperplasia to sinonasal melanoma with distant metastasis and a unique genetic rearrangement.0
351166172021Complex genetic alterations contribute to rapid disease progression in an ALK rearrangement lung adenocarcinoma patient: a case report.0
347661502021Two novel strategies to overcome the resistance to ALK tyrosine kinase inhibitor drugs: Macrocyclic inhibitors and proteolysis-targeting chimeras.2
340904122021EML4-ALK-mediated activation of the JAK2-STAT pathway is critical for non-small cell lung cancer transformation.0
340901722021Effect of timing, technique and molecular features on brain control with local therapies in oncogene-driven lung cancer.1
341642642021Earlier extracranial progression and shorter survival in ALK-rearranged lung cancer with positive liquid rebiopsies.6
341642172021WBRT for brain metastases from non-small cell lung cancer: for whom and when?-Contemporary point of view.0
338787282021Targeting EML4-ALK gene fusion variant 3 in thyroid cancer.2
334840692021Development of an optimal protocol for molecular profiling of tumor cells in pleural effusions at single-cell level.2
328191262021An ALK-positive lung adenocarcinoma with gastric and skin metastasis: a case report and literature review.1


Pubmed IDLast YearTitleAuthors
197344242009The EML4-ALK transcript but not the fusion protein can be expressed in reactive and neoplastic lymphoid tissues.Sozzi G et al


Fusion gene

EML4/ALK EML4 (2p21) ALK (2p23.2)


Non-annotated chromosomal abnormality. Preliminary data :
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Jean-Loup Huret ; Philippe Dessen

inv(2)(p21p23) EML4/ALK

Atlas Genet Cytogenet Oncol Haematol. 2018-01-01

Online version:

External Links