ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2016
Recurrent fusion of the genes FN1 and ALK in gastrointestinal leiomyomas.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 29 citations in OpenAlex.
- Myxoid epithelioid smooth muscle tumor with a novel MEF2A::NCOA2 fusion arising in the rectum: case report and literature review.Virchows Archiv : an international journal of pathology · 2026Review
- NovelPathology oncology research : POR · 2026Article
- Superficial acral calcified chondroid mesenchymal neoplasm harboring an FN1::FGFR2 fusion and review of the literature.Journal of cutaneous pathology · 2024Review
- Malakoplakia with aberrant ALK expression by immunohistochemistry: a case report.Diagnostic pathology · 2023Article
- Genomic characterization and outcome evaluation of kinome fusions in lung cancer revealed novel druggable fusions.NPJ precision oncology · 2021Article
- Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including FGFR2, FGFR1, MERTK, NTRK1, and TEK: a molecular and clinicopathologic analysis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Diagnostic Immunohistochemistry of Soft Tissue and Bone Tumors: An Update on Biomarkers That Correlate with Molecular Alterations.Diagnostics (Basel, Switzerland) · 2021Review
- Pseudosarcomatous myofibroblastic proliferations of the urinary bladder are neoplasms characterized by recurrent FN1-ALK fusions.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Frequent overexpression of klotho in fusion-negative phosphaturic mesenchymal tumors with tumorigenic implications.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- A molecular study of synovial chondromatosis.Genes, chromosomes & cancer · 2020Article
- Synovial chondromatosis and soft tissue chondroma: extraosseous cartilaginous tumor defined by FN1 gene rearrangement.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Article
- Anaplastic Lymphoma Kinase (ALK) Receptor Tyrosine Kinase: A Catalytic Receptor with Many Faces.International journal of molecular sciences · 2018Review
- Malignant transformation of uterine leiomyoma to myxoid leiomyosarcoma after morcellation associated withOncotarget · 2018Article
- Anaplastic large cell lymphoma: pathology, genetics, and clinical aspects.Journal of clinical and experimental hematopathology : JCEH · 2017Review
- Several Fusion Genes Identified in a Spermatic Cord Leiomyoma With Rearrangements of Chromosome Arms 3p and 21q.Cancer genomics & proteomicsArticle
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leiomyomas of the gastrointestinal tract are mostly found in the esophagus, stomach, and colon. Genetic information about them is very limited and no fusion genes have been described. We present herein cytogenetic and molecular genetic analyses of two gastrointestinal leiomyomas found in the esophagus and small intestine. The esophageal leiomyoma had the karyotype 45,Y,der(X)t(X;6)(p22;p21),inv(2)(p23q35),add(6)(p21),-11[cp6]/46,XY[7]. The intestinal leiomyoma karyotype was 46,X,add(X)(q2?),der(2)add(2)(p23)add(2)(q33),add(4)(p14),add(14)(q22)[10]/47,XX,+12[2]/46,XX[1]. RNA-sequencing detected FN1-ALK fusion transcripts in both tumors. RT-PCR together with Sanger sequencing verified the presence of the FN1-ALK fusion transcripts. Fluorescence in situ hybridization using an ALK breakapart probe further confirmed the rearrangement of the ALK gene. Immunohistochemical investigation of ALK in the leiomyoma of the small intestine revealed positivity with strong granular cytoplasmatic staining in the tumor cells. This is the first ever ALK fusion reported in gastrointestinal leiomyomas. Our results are of potential clinical importance because crizotinib, a selective ALK inhibitor, has demonstrated effect in patients whose tumors harbor ALK rearrangements. Thus, ALK emerges as a possible therapeutic target in patients whose tumors, including gastrointestinal leiomyomas, carry ALK fusions.
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