Novel FUS‐KLF17 and EWSR1‐KLF17 fusions in myoepithelial tumors
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Le résumé fourni par la source
Myoepithelial (ME) tumors of soft tissue and bone display a heterogeneous histologic spectrum and in about half of the cases harbor EWSR1 gene rearrangements. Despite rare case reports, the prevalence of fused in sarcoma (FUS) gene abnormalities and its related fusion partners remains undetermined among ME tumors. Therefore, we screened 66 EWSR1-negative ME tumors for FUS abnormalities by fluorescence in situ hybridization (FISH). In an index FUS-rearranged case, 3'-rapid amplification of cDNA ends (RACE) was applied to identify the fusion partner. Results were further confirmed by reverse transcription-PCR, followed by FISH screening the entire cohort of FUS-rearranged and EWSR1-positive ME lesions lacking a known fusion partner. The correlation between genotype and clinicopathological features was also investigated. As a result, six (9%) FUS-rearranged cases were identified, spanning divergent age groups, tumor locations, and morphologic features. A novel FUS-KLF17 fusion was identified by 3'-RACE in an 11-year-old girl with a foot lesion associated with locoregional metastases. Three additional cases with FUS-KLF17 fusions were identified and one KLF17 rearrangement (6.3%) was found among the 16 EWSR1-positive cases tested. The KLF17-related ME tumors affected younger patients and often exhibited trabecular growth in a myxohyaline stroma, but this genotype did not correlate with a malignant phenotype. In conclusion, a small subset of ME tumors harbor FUS rearrangements, two thirds of them being associated with KLF17 fusion. FUS FISH analysis is recommended in EWSR1-negative lesions in which a ME diagnosis is suspected. KLF17 is also a rare gene fusion partner to EWSR1-rearranged ME tumors.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- Novel <i>FUS‐KLF17</i> and <i>EWSR1‐KLF17</i> fusions in myoepithelial tumors
- Date Crossref
- 23/02/2015
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Memorial Sloan Kettering Cancer Center pays non établi dans la noticeÉtablissement de santé
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Chang Gung University Department of Pathology Chang Gung Memorial Hospital pays non établi dans la noticeUniversité ou école supérieure
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Chang Gung Memorial Hospital pays non établi dans la noticeÉtablissement de santé
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Spectrum Health pays non établi dans la noticeÉtablissement de santé
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North Shore Diabetes and Endocrine Associates pays non établi dans la noticeÉtablissement de santé
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Brigham and Women's Hospital Department of Pathology pays non établi dans la noticeÉtablissement de santé
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Department of Pathology pays non établi dans la noticeInstitution
Memorial Sloan Kettering Cancer Center, Department of Pathology Chang Gung Memorial Hospital — Chang Gung University et Chang Gung Memorial Hospital, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.