EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty-six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene

Autor: Christopher D.M. Fletcher, Cristina R. Antonescu, Andrew E. Rosenberg, Paola Dal Cin, Ning En Chang, William D. Travis, G. Petur Nielsen, Lei Zhang, Bruce R. Pawel, Nora Katabi, Morris Edelman
Rok vydání: 2010
Předmět:
Adult
Cancer Research
Pathology
medicine.medical_specialty
Skin Neoplasms
Adolescent
Oncogene Proteins
Fusion
Gene Expression
Bone Neoplasms
Soft Tissue Neoplasms
Biology
Myoepithelioma
Article
Immunophenotyping
Young Adult
Proto-Oncogene Proteins
Genetics
medicine
Biomarkers
Tumor
Humans
Oncogene Fusion
Hyalinizing clear cell carcinoma
Child
In Situ Hybridization
Fluorescence
Aged
Gene Rearrangement
Salivary gland
medicine.diagnostic_test
Pre-B-Cell Leukemia Transcription Factor 1
Myoepithelial cell
Soft tissue
RNA-Binding Proteins
Zinc Fingers
Anatomy
Gene rearrangement
Middle Aged
medicine.disease
Salivary Gland Neoplasms
DNA-Binding Proteins
medicine.anatomical_structure
Molecular Diagnostic Techniques
Cytogenetic Analysis
RNA-Binding Protein FUS
Calmodulin-Binding Proteins
RNA-Binding Protein EWS
Octamer Transcription Factor-3
Clear cell
Fluorescence in situ hybridization
Myoepithelial Tumor
Zdroj: Genes, chromosomescancer. 49(12)
ISSN: 1098-2264
Popis: The diagnosis of myoepithelial (ME) tumors outside salivary glands remains challenging, especially in unusual clinical presentations, such as bone or visceral locations. A few reports have indicated EWSR1 gene rearrangement in soft tissue ME tumors, and, in one case each, the fusion partner was identified as either PBX1 or ZNF444. However, larger studies to investigate whether these genetic abnormalities are recurrent or restricted to tumors in soft tissue locations are lacking. Sixty-six ME tumors mainly from soft tissue (71%), but also from skin, bone, and visceral locations, characterized by classic morphological features and supporting immunoprofile were studied. Gene rearrangements in EWSR1, FUS, PBX1, and ZNF444 were investigated by fluorescence in situ hybridization. EWSR1 gene rearrangement was detected in 45% of the cases. A EWSR1-POU5F1 fusion was identified in a pediatric soft tissue tumor by 3'Rapid Amplification of cDNA Euds (RACE) and subsequently confirmed in four additional soft tissue tumors in children and young adults. An EWSR1-PBX1 fusion was seen in five cases, whereas EWSR1-ZNF444 and FUS gene rearrangement was noted in one pulmonary tumor each. In conclusion, EWSR1 gene rearrangement is a common event in ME tumors arising outside salivary glands, irrespective of anatomical location. EWSR1-negative tumors were more often benign, superficially located, and showed ductal differentiation, suggesting the possibility of genetically distinct groups. A subset of soft tissue ME tumors with clear cell morphology harbor an EWSR1-POU5F1 fusion, which can be used as a molecular diagnostic test in difficult cases. These findings do not support a pathogenetic relationship between soft tissue ME tumors and their salivary gland counterparts.
Databáze: OpenAIRE
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