ArticleThe American journal of pathology2003
Studies on the molecular pathogenesis of extraskeletal myxoid chondrosarcoma-cytogenetic, molecular genetic, and cDNA microarray analyses.
Article in The American journal of pathology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 113 citations in OpenAlex.
- Gene translocations in musculoskeletal neoplasms.Clinical orthopaedics and related research · 2008Pooled it
- Article
- Novel HSPA8-NR4A2 rearrangement in extraskeletal myxoid chondrosarcoma: a sarcoma mimicker of neuroendocrine neoplasia.Virchows Archiv : an international journal of pathology · 2025Article
- Uterine mesenchymal tumour with a novel EWSR1::CTBP1 gene fusion.Virchows Archiv : an international journal of pathology · 2025Article
- From pathogenesis to the patient's bedside: a comprehensive review of extraskeletal myxoid chondrosarcoma.Journal of cancer research and clinical oncology · 2025Review
- Top Ten Differentials to Mull Over for Head and Neck Myoepithelial Neoplasms.Head and neck pathology · 2023Review
- Differential expression of Chitinase 3-Like 1 protein in appendicitis and appendix carcinomas.Journal of clinical laboratory analysis · 2022Article
- Extraskeletal Myxoid Chondrosarcoma: State of the Art and Current Research on Biology and Clinical Management.Cancers · 2020Review
- INSM1 expression and its diagnostic significance in extraskeletal myxoid chondrosarcoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Primary extraskeletal myxoid chondrosarcoma in cerebellum: A case report with literature review.Medicine · 2017Article
- Article
- Molecular strategies for detecting chromosomal translocations in soft tissue tumors (review).International journal of molecular medicine · 2014Review
- Mechanisms linking excess adiposity and carcinogenesis promotion.Frontiers in endocrinology · 2014Review
- Identification of genes regulated by the EWS/NR4A3 fusion protein in extraskeletal myxoid chondrosarcoma.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2012Article
- Extraskeletal myxoid chondrosarcoma of the thigh with a t(9;17) translocation.Oncology letters · 2012Article
- Extraskeletal myxoid chondrosarcoma with small bowel metastasis causing bowel obstruction.Case reports in oncological medicine · 2012Article
- A case of highly aggressive extraskeletal myxoid chondrosarcoma.Case reports in oncology · 2011Article
- Cytogenetics and molecular genetics of myxoid soft-tissue sarcomas.Genetics research international · 2011Article
- Molecular classification of soft tissue sarcomas and its clinical applications.International journal of clinical and experimental pathology · 2010Review
- Genomic characteristics of soft tissue sarcomas.Virchows Archiv : an international journal of pathology · 2010Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Extraskeletal myxoid chondrosarcomas (EMCs) are characterized by recurrent chromosome translocations resulting in fusions of the nuclear receptor TEC to various NH(2)-terminal partners. Here we describe the phenotypic, cytogenetic, and molecular genetic characteristics of a series of 10 EMCs. Using spectral karyotyping and fluorescence in situ hybridization, clonal chromosome abnormalities were detected in all but one tumor. A t(9;22)(q22;q12) translocation was found in three cases; a del(22)(q12-13)in one case; and variant translocations, including t(9;17)(q22;q11-12), t(7;9;17)(q32;q22;q11), and t(9;15)(q22;q21), were detected in one case each. Recurrent, secondary abnormalities, including trisomy 1q, 7, 8, 12, and 19, were found in seven tumors. All tumors contained translocation-generated or cryptic gene fusions, including EWS-TEC (five cases, of which one was a novel fusion), TAF2N-TEC (four cases), and TCF12-TEC (one case). cDNA microarray analysis of the gene expression patterns of two EMCs and a myxoid liposarcoma reference tumor revealed a remarkably distinct and uniform expression profile in both EMCs despite the fact that they had different histologies and expressed different fusion transcripts. The most differentially expressed gene in both tumors was CHI3L1, which encodes a secreted glycoprotein (YKL-40) previously implicated in various pathological conditions of extracellular matrix degradation as well as in cancer. Our findings suggests that EMC exhibits a tumor-specific gene expression profile, including overexpression of several cancer-related genes as well as genes implicated in chondrogenesis and neural-neuroendocrine differentiation, thus distinguishing it from other soft tissue sarcomas.
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Registered trials
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