inv(2)(p21p23) EML4/ALK

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

Clinics and Pathology

Disease

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
EML4
Location
2p21
Gene name
ALK
Location
2p23.2

Highly cited references

Pubmed IDYearTitleCitations
237080712013Membrane phospholipids, EML4-ALK, and Hsp90 as novel targets in lung cancer treatment.135
358845112022Alternative Treatment Options to ALK Inhibitor Monotherapy for EML4-ALK-Driven Lung Cancer.134
267554352016Molecular mechanisms that underpin EML4-ALK driven cancers and their response to targeted drugs.116
371498432023EML4-ALK biology and drug resistance in non-small cell lung cancer: a new phase of discoveries.100
382849902024EML4-ALK fusions drive lung adeno-to-squamous transition through JAK-STAT activation.96
359288042022EML4-ALK fusion gene in non-small cell lung cancer.94
394885302024Oncogenic EML4-ALK assemblies suppress growth factor perception and modulate drug tolerance.88
379407612024EML4-ALK fusion protein in Lung cancer cells enhances venous thrombogenicity through the pERK1/2-AP-1-tissue factor axis.87
369828972023Molecular Anatomy of the EML4-ALK Fusion Protein for the Development of Novel Anticancer Drugs.85
338787282021Targeting EML4-ALK gene fusion variant 3 in thyroid cancer.77
258062242013Targeting EML4-ALK driven non-small cell lung cancer (NSCLC).71
190323702008Non-solid oncogenes in solid tumors: EML4-ALK fusion genes in lung cancer.71
358063252022The Change in Paradigm for NSCLC Patients with EML4-ALK Translocation.62
337618962021EML4-ALK induces cellular senescence in mortal normal human cells and promotes anchorage-independent growth in hTERT-transduced normal human cells.58
321842612020EML4-ALK V3 oncogenic fusion proteins promote microtubule stabilization and accelerated migration through NEK9 and NEK7.58
289386912017Concomitant EML4-ALK rearrangement and EGFR mutation in non-small cell lung cancer patients: a literature review of 100 cases.58
380232182023Two case reports: EML4-ALK rearrangement large cell neuroendocrine carcinoma and literature review.57
339072232021ALK inhibition activates LC3B-independent, protective autophagy in EML4-ALK positive lung cancer cells.50
382647452023ALK F1174S mutation impairs ALK kinase activity in EML4-ALK variant 1 and sensitizes EML4-ALK variant 3 to crizotinib.47
288725812017EML4-ALK Variants: Biological and Molecular Properties, and the Implications for Patients.45
346613672021Phase-separated foci of EML4-ALK facilitate signalling and depend upon an active kinase conformation.43
204180962010The biology and treatment of EML4-ALK non-small cell lung cancer.43
259716572015The EML4-ALK oncogene: targeting an essential growth driver in human cancer.42
263016892015RAS-MAPK dependence underlies a rational polytherapy strategy in EML4-ALK-positive lung cancer.42
320475592020Comparison of EML4-ALK fusion gene positive rate in different detection methods and samples of non-small cell lung cancer.42
283707022017Effects of SMYD2-mediated EML4-ALK methylation on the signaling pathway and growth in non-small-cell lung cancer cells.42
383609312024Inflammation-related molecular signatures involved in the anticancer activities of brigatinib as well as the prognosis of EML4-ALK lung adenocarcinoma patient.41
257274002015Activity of second-generation ALK inhibitors against crizotinib-resistant mutants in an NPM-ALK model compared to EML4-ALK.41
356566942022EML4-ALK Variant 3 Promotes Mitotic Errors and Spindle Assembly Checkpoint Deficiency Leading to Increased Microtubule Poison Sensitivity.39
271413642016EML4-ALK enhances programmed cell death-ligand 1 expression in pulmonary adenocarcinoma via hypoxia-inducible factor (HIF)-1α and STAT3.39
325582952020Vulnerability of drug-resistant EML4-ALK rearranged lung cancer to transcriptional inhibition.38
297740632018Dual target gene therapy to EML4-ALK NSCLC by a gold nanoshell-based system.38
382052042023Efficacy of alectinib in lung adenocarcinoma patients with different anaplastic lymphoma kinase (ALK) rearrangements and co-existing alterations-a retrospective cohort study.38
384339792024Overcoming Central β-Sheet #6 (Cβ6) ALK Mutation (L1256F), TP53 Mutations and Short Forms of EML4-ALK v3/b and v5a/b Splice Variants are the Unmet Need That a Re-Imagined 5th-Generation (5G) ALK TKI Must Deliver.36
196672602009EML4-ALK: honing in on a new target in non-small-cell lung cancer.35
339761142021Phase separation of EML4-ALK in firing downstream signaling and promoting lung tumorigenesis.34
270788482016CRKL mediates EML4-ALK signaling and is a potential therapeutic target for ALK-rearranged lung adenocarcinoma.34
258062832014Concordance of IHC, FISH and RT-PCR for EML4-ALK rearrangements.33
290549832018ALK Inhibitor Response in Melanomas Expressing EML4-ALK Fusions and Alternate ALK Isoforms.33
363251532022Potential Therapeutic Strategy for EGFR-Mutant Lung Cancer With Concomitant EML4-ALK Rearrangement-Combination of EGFR Tyrosine Kinase Inhibitors and ALK Inhibitors.33
254079012014Non-small cell lung cancer with EML4-ALK translocation in Chinese male never-smokers is characterized with early-onset.33
384485122024New pan-ALK inhibitor-resistant EML4::ALK mutations detected by liquid biopsy in lung cancer patients.32
351590462022A Polytherapy Strategy Using Vincristine and ALK Inhibitors to Sensitise EML4-ALK-Positive NSCLC.32
334253892020The Prevalence of the EML4-ALK Fusion Gene in Cytology Specimens from Patients with Lung Adenocarcinoma.32
185940102008EML4-ALK fusion gene and efficacy of an ALK kinase inhibitor in lung cancer.31
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.31
340904122021EML4-ALK-mediated activation of the JAK2-STAT pathway is critical for non-small cell lung cancer transformation.29
306793192019Carcinoma of Unknown Primary with EML4-ALK Fusion Response to ALK Inhibitors.27
395220872024A novel double fusion of EML4-ALK and PLEKHA7-ALK contribute to rapid progression of lung adenocarcinoma: a case report and literature review.23
200752032010EML4-ALK fusion in lung.19
370070892023Acquired ALK G1202R-, ALK I1171N-, or EML4-ALK-mediated resistance to ensartinib in lung adenocarcinoma but responded to lorlatinib: A case report.19
362213562022Lung adenocarcinoma harboring complex EML4-ALK fusion and BRAF V600E co-mutation responded to alectinib.19
370556062023Coexistence of a novel SETD2-ALK, EML4-ALK double-fusion in an advanced lung adenocarcinoma patient after alectinib resistant and response to immunotherapy combined with chemotherapy: a case report.18
299529522018Correlation between EML4-ALK, EGFR and clinicopathological features based on IASLC/ATS/ERS classification of lung adenocarcinoma.18
398405872025Impact of EML4-ALK Variants and TP53 Status on the Efficacy of ALK Inhibitors in Patients With Non-small Cell Lung Cancer.17
223238762012EML4-ALK fusion gene in Korean non-small cell lung cancer.16
306315672018Examining EML4-ALK variants in the clinical setting: the next frontier?15
300230992018EML4-ALK V3, treatment resistance, and survival: refining the diagnosis of ALK(+) NSCLC.12
322122162020Novel NLRC4-ALK and EML4-ALK double fusion mutations in a lung adenocarcinoma patient: A case report.12
375100702023EML4-ALK Gene Mutation Detected with New NGS Lung Cancer Panel CDx Using Sputum Cytology in a Case of Advanced NSCLC.11
183200742008EML4-ALK fusion lung cancer: a rare acquired event.10
300687332018Endometrial cancer with an EML4-ALK rearrangement.7
351170672019EML4-ALK translocation identification in RNA exosomal cargo (ExoALK) in NSCLC patients: a novel role for liquid biopsy.5
309026132019Updated Efficacy and Safety Data and Impact of the EML4-ALK Fusion Variant on the Efficacy of Alectinib in Untreated ALK-Positive Advanced Non-Small Cell Lung Cancer in the Global Phase III ALEX Study.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.0
375413892023Efficacy of Lorlatinib in Treatment-Naive Patients With ALK-Positive Advanced NSCLC in Relation to EML4::ALK Variant Type and ALK With or Without TP53 Mutations.0
300697722018Alectinib.0
373771282023EML4::ALK fusions in complex lymphatic malformations.0
294942602018EML4-ALK Variant Affects ALK Resistance Mutations.0
274582832016Differential Sensitivity to Crizotinib: Does EML4-ALK Fusion Variant Matter?0
390193262024Impact of EML4-ALK Variants and Co-Occurring TP53 Mutations on Duration of First-Line ALK Tyrosine Kinase Inhibitor Treatment and Overall Survival in ALK Fusion-Positive NSCLC: Real-World Outcomes From the GuardantINFORM database.0
395107022024EML4-ALK Variants and Co-Occurring TP53 Mutations in a Real-World Treatment Setting: Do They Matter?0
350857712022EML4-ALK G1202R mutation induces EMT and confers resistance to ceritinib in NSCLC cells via activation of STAT3/Slug signaling.0
314326862019The prevalence of EML4-ALK variants in patients with non-small-cell lung cancer: a systematic review and meta-analysis.0
342332402021Concomitance of a novel RMDN2-ALK fusion and an EML4-ALK fusion in a lung adenocarcinoma.0
350742242022Targeting Alternative Splicing as Adjunctive Treatment in EML4-ALK v3a/b+ NSCLC: Knowing Our Socratic Paradox and Learning From Spinal Muscular Atrophy.0
347631582021Coexistence of a novel NBEA-ALK, EML4-ALK double-fusion in a lung adenocarcinoma patient and response to alectinib: A case report.0
359339142022Novel human-derived EML4-ALK fusion cell lines identify ribonucleotide reductase RRM2 as a target of activated ALK in NSCLC.0
307919792019miR-100-5p confers resistance to ALK tyrosine kinase inhibitors Crizotinib and Lorlatinib in EML4-ALK positive NSCLC.0
328787822020ALK Inhibitors Do Not Increase Sensitivity to Radiation in EML4-ALK Non-small Cell Lung Cancer.0
324090022020A novel EML4-ALK BIRC6-ALK double fusion variant in lung adenocarcinoma confers sensitivity to alectinib.0
393180392025EML4-ALK G1202R and EML4-ALK L1196M mutations induce crizotinib resistance in non-small cell lung cancer cells through activating epithelial-mesenchymal transition mediated by MDM2/MEK/ERK signal axis.0
229123872012Differential protein stability and ALK inhibitor sensitivity of EML4-ALK fusion variants.0
343910652021Identification of a EML4-ALK exon 19 fusion variant in lung adenocarcinoma and alectinib resistance.0
317117282020Identification of EML4-ALK fusion in a sporadic case of cholangiocarcinoma.0
343782832021An unusual fusion gene EML4-ALK in a patient with congenital mesoblastic nephroma.0
182427622008EML4-ALK fusion transcripts, but no NPM-, TPM3-, CLTC-, ATIC-, or TFG-ALK fusion transcripts, in non-small cell lung carcinomas.0
390782812024SIRT1 silencing promotes EMT and Crizotinib resistance by regulating autophagy through AMPK/mTOR/S6K signaling pathway in EML4-ALK L1196M and EML4-ALK G1202R mutant non-small cell lung cancer cells.0
330177272020Distribution of EML4-ALK fusion variants and clinical outcomes in patients with resected non-small cell lung cancer.0
257359772015EML4-ALK induces epithelial-mesenchymal transition consistent with cancer stem cell properties in H1299 non-small cell lung cancer cells.0
211022542010EML4/ALK and ras inhibitors.0
215696902011[EML4-ALK fusion in non-small-cell lung cancer].0
181668352008EML4-ALK fusion is linked to histological characteristics in a subset of lung cancers.0
227066072012A novel EML4-ALK variant: exon 6 of EML4 fused to exon 19 of ALK.0
392534472024Cancer-associated fibroblasts confer ALK inhibitor resistance in EML4-ALK -driven lung cancer via concurrent integrin and MET signaling.0
267816142016ALK-positive large B-cell lymphoma: identification of EML4-ALK and a review of the literature focusing on the ALK immunohistochemical staining pattern.0
229647092012EML4-ALK rearrangement and its clinical significance in Chinese patients with advanced non-small cell lung cancer.0
380974512024Localised ALK-positive histiocytosis in lung with EML4::ALK fusion.0
251442422014A novel mechanism of EML4-ALK rearrangement mediated by chromothripsis in a patient-derived cell line.0
248913632014EML4-ALK fusions: propelling cancer but creating exploitable chaperone dependence.0

Article Bibliography

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

Summary

Fusion gene

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

Note

Non-annotated chromosomal abnormality. Preliminary data :
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Citation

Jean-Loup Huret ; Philippe Dessen

inv(2)(p21p23) EML4/ALK

Atlas Genet Cytogenet Oncol Haematol. 2018-01-01

Online version: http://atlasgeneticsoncology.org/haematological/3373/inv(2)(p21p23)-eml4-alk