A novelEWS-CREB3L3gene fusion in a mesenteric sclerosing epithelioid fibrosarcoma
| Autor: | Vanessa Vanspauwen, Gabriel Levy, Bénédicte Brichard, Barbara Dewaele, Maria Debiec-Rychter, Louis Libbrecht, Raf Sciot |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Cancer Research Pathology medicine.medical_specialty biology medicine.diagnostic_test Oncogene Proteins EWING SARCOMA BREAKPOINT REGION 1 Fibroblastic Neoplasm Abdominal cavity Anatomy Fusion gene 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure 030220 oncology & carcinogenesis Genetics medicine Immunohistochemistry biology.gene Epithelioid cell Fluorescence in situ hybridization |
| Zdroj: | Genes, Chromosomes and Cancer. 56:695-699 |
| ISSN: | 1045-2257 |
| Popis: | Sclerosing epithelioid fibrosarcoma (SEF) is a rare, malignant fibroblastic neoplasm, morphologically composed of cords, nests or sheets of monotonous epithelioid cells within a collagenous matrix. It has been recently characterized by recurrent pathogenic EWS-CREB3L1/2 or FUS-CREB3L2 fusions and common MUC4 protein expression by immunohistochemistry. Typically SEF occur in middle-aged adults and rarely have been reported within the abdominal cavity. Here we report an 18-year-old man with intraabdominal tumor and multiple disseminated liver metastases, presenting pure SEF histologic and immunophenotypic features. Fluorescence in situ hybridization analysis showed unbalanced rearrangement of Ewing sarcoma breakpoint region 1 (EWSR1) gene. Genomic profiling by array CGH, followed by RT-PCR and sequencing analysis, revealed a previously not reported EWSR1 translocation partner, cAMP-responsive element-binding protein 3-like 3 (CREB3L3). The novel EWSR1-CREB3L3 fusion further extends the range of fusion types involving EWSR1 that are characteristic for SEF. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text