del(1)(q22q23) LMNA::NTRK1

Genes involved

LMNA (1q22)

NTRK1 (1q23.1)

Oncogenic mechanisms

Constitutive activation of TRK pathway

Targeted therapy

Larotrectinib

entrectinib

Tumor type

Infantile fibrosarcoma

lipofibromatosis

undifferentiated pleomorphic sarcoma

Highly cited references

Pubmed IDYearTitleCitations
306339252019New fusion sarcomas: histopathology and clinical significance of selected entities.86
315671892020Colonic Adenocarcinomas Harboring NTRK Fusion Genes: A Clinicopathologic and Molecular Genetic Study of 16 Cases and Review of the Literature.59
316539702019Genomic characterization of intrinsic and acquired resistance to cetuximab in colorectal cancer patients.53
380148532024Detection of Novel Tyrosine Kinase Fusion Genes as Potential Therapeutic Targets in Bone and Soft Tissue Sarcomas Using DNA/RNA-based Clinical Sequencing.50
328600022021Broadening the spectrum of NTRK rearranged mesenchymal tumors and usefulness of pan-TRK immunohistochemistry for identification of NTRK fusions.50
382548502024Translation into Clinical Practice of the G1-G7 Molecular Subgroup Classification of Glioblastoma: Comprehensive Demographic and Molecular Pathway Profiling.46
310153112019Molecular Profiling of Tumor Tissue and Plasma Cell-Free DNA from Patients with Non-Langerhans Cell Histiocytosis.46
362586942022Survival benefit of combinatorial osimertinib rechallenge and entrectinib in an EGFR-mutant NSCLC patient with acquired LMNA-NTRK1 fusion following osimertinib resistance.40
329579842020Clinicopathological findings of pediatric NTRK fusion mesenchymal tumors.38
267164142016NTRK1 fusions for the therapeutic intervention of Korean patients with colon cancer.38
389256162024Prevalence of neurotrophic tropomyosin receptor kinase (NTRK) fusion gene positivity in patients with solid tumors in Japan.35
352378892022Gene fusions and oncogenic mutations in MLH1 deficient and BRAFV600E wild-type colorectal cancers.35
368019052023Generating in vitro models of NTRK-fusion mesenchymal neoplasia as tools for investigating kinase oncogenic activation and response to targeted therapy.33
353665922022Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions.32
307098762019Refractory and metastatic infantile fibrosarcoma harboring LMNA-NTRK1 fusion shows complete and durable response to crizotinib.32
262162942015An Oncogenic NTRK Fusion in a Patient with Soft-Tissue Sarcoma with Response to the Tropomyosin-Related Kinase Inhibitor LOXO-101.32
346255022021Molecular Characteristics of Repotrectinib That Enable Potent Inhibition of TRK Fusion Proteins and Resistant Mutations.31
295539552018NTRK Fusions Define a Novel Uterine Sarcoma Subtype With Features of Fibrosarcoma.27
363571042022Intestinal LMNA::NTRK1-fused spindle cell neoplasm with S100 and CD34 coexpression: a new case.26
323488522020Enrichment of kinase fusions in ESR1 wild-type, metastatic breast cancer revealed by a systematic analysis of 4854 patients.25
399884432025[A Case Report of Lung Adenocarcinoma with EGFR G719A Mutation 
and LMNA-NTRK1 Fusion].24
327827822020Successful treatment of lipofibromatosis-like neural tumor of the lumbar spine with an NTRK-fusion inhibitor.24
381049892024LMNA::NTRK1 Fusion-positive Leiomyosarcoma: Discrepancy between DNA-based Comprehensive Genomic Profiling and RNA Sequencing.18
287194672017Pan-Trk Immunohistochemistry Is an Efficient and Reliable Screen for the Detection of NTRK Fusions.17
301348552018A primary undifferentiated pleomorphic sarcoma of the lumbosacral region harboring a LMNA-NTRK1 gene fusion with durable clinical response to crizotinib: a case report.17
265633552016Sensitivity to Entrectinib Associated With a Novel LMNA-NTRK1 Gene Fusion in Metastatic Colorectal Cancer.12
267478922016Tracking Down Response and Resistance to TRK Inhibitors.10
346674752021Unusual Presentation of Lipofibromatosis-Like Neural Tumor in an Adult: A Case Report.10
298926622018Lipofibromatosis-like neural tumor: Case report of a unique infantile presentation.9
333544052021Dermoscopic Features of Spitz Tumor With LMNA-NTRK1 Fusion.2
265633572016N of 2 Responders with LMNA-NTRK1.0
361620332022Adultes Xanthogranulom mit LMNA-NTRK1-Genfusion - ein möglicher Proliferationsfaktor.0
360284682022Adult xanthogranuloma with LMNA-NTRK1 gene fusion - a possible driver of proliferation.0
286835892018Infantile NTRK-associated Mesenchymal Tumors.0
325193382021LMNA-NTRK1 rearranged mesenchymal tumor (lipofibromatosis-like neural tumor) mimicking pigmented dermatofibrosarcoma protuberans.0
336310442021NTRK fusion-positive colorectal cancer in Japanese population.0
386131942024Acquired NF2 mutation confers resistance to TRK inhibition in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model.0
394123352025LMNA::NTRK1 and PRDX1::NTRK1 Atypical Spitz Tumor: A Report of Two Additional Cases With Histological, Immunohistochemical, and Molecular Insights.0
365864212023CANTRK: A Canadian Ring Study to Optimize Detection of NTRK Gene Fusions by Next-Generation RNA Sequencing.0
346280362021Design, synthesis and biological evaluation of macrocyclic derivatives as TRK inhibitors.0
385258232024Primary NTRK -rearranged Spindle Cell Neoplasm of the Gastrointestinal Tract: A Clinicopathological and Molecular Analysis of 8 Cases.0
351497692022Adult NTRK-rearranged spindle cell neoplasms of the viscera: with an emphasis on rare locations and heterologous elements.0
371424532023Elaboration of NTRK-rearranged colorectal cancer: Integration of immunoreactivity pattern, cytogenetic identity, and rearrangement variant.0
276179362016Generalized eruptive histiocytosis associated with a novel fusion in LMNA-NTRK1.0
288516642018Pediatric soft tissue tumor of the upper arm with LMNA-NTRK1 fusion.0
386534032024Prevalence and detection methodology for preliminary exploration of NTRK fusion in gastric cancer from a single-center retrospective cohort.0
330691292020Design, synthesis and biological activity of bicyclic carboxamide derivatives as TRK inhibitors.0
265462952016Acquired Resistance to the TRK Inhibitor Entrectinib in Colorectal Cancer.0
331687932020Comprehensive analysis of ALK, ROS1 and RET rearrangements in locally advanced rectal cancer.0
326103772020[Clinicopathological characteristics of NTRK-rearranged mesenchymal tumors in childhood].0
359775942022Pan-tropomyosin receptor kinase immunohistochemistry is a feasible routine screening strategy for NTRK fusions in mismatch repair-deficient colorectal carcinomas.0
344025292021NTRK oncogenic fusions are exclusively associated with the serrated neoplasia pathway in the colorectum and begin to occur in sessile serrated lesions.0
326696122021Mesenchymal tumors of the gastrointestinal tract with NTRK rearrangements: a clinicopathological, immunophenotypic, and molecular study of eight cases, emphasizing their distinction from gastrointestinal stromal tumor (GIST).0
265633562016Evaluation of a Congenital Infantile Fibrosarcoma by Comprehensive Genomic Profiling Reveals an LMNA-NTRK1 Gene Fusion Responsive to Crizotinib.0
345180392022Detection of NTRK fusions in glioblastoma: fluorescent in situ hybridisation is more useful than pan-TRK immunohistochemistry as a screening tool prior to RNA sequencing.0
352203542022Primary NTRK-rearranged Spindle Cell Neoplasm of the Lung: A Clinicopathologic and Molecular Analysis of 3 Cases.0
268639152016Paediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a prominent myopericytic/haemangiopericytic pattern.0
317923562020NTRK gene rearrangements are highly enriched in MLH1/PMS2 deficient, BRAF wild-type colorectal carcinomas-a study of 4569 cases.0
320508352020Myxoid Spindle Cell Sarcoma With LMNA-NTRK Fusion: Expanding the Morphologic Spectrum of NTRK-Rearranged Tumors.0
316311472019[A Case of Pediatric Soft Tissue Sarcoma with LMNA-NTRK1 Gene Fusion Treated with Larotrectinib under Single Patient Expanded Access System].0
388259062024[Clinicopathological and molecular characteristics of NTRK-rearranged spindle cell neoplasms in the gastrointestinal tract].0
294217872018A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.0

Bibliography

Pubmed IDPublication YearTitleAuthors
307098762019Refractory and metastatic infantile fibrosarcoma harboring LMNA-NTRK1 fusion shows complete and durable response to crizotinib.Bender J, et al
272590112016Recurrent NTRK1 Gene Fusions Define a Novel Subset of Locally Aggressive Lipofibromatosis-like Neural Tumors.Agaram NP, et al
325193382021LMNA-NTRK1 rearranged mesenchymal tumor (lipofibromatosis-like neural tumor) mimicking pigmented dermatofibrosarcoma protuberans.Panse G, et al
301348552018A primary undifferentiated pleomorphic sarcoma of the lumbosacral region harboring a LMNA-NTRK1 gene fusion with durable clinical response to crizotinib: a case report.Zhou N, et al