A case report of synovial sarcoma with translocation (X;18). Application of fluorescence in situ hybridization to paraffin-embedded tissue

Abstract

A 57-year-old female patient with synovial sarcoma in her right foot had a chromosome abnormality defined as translocation (X;18). The tumour was located in the subcutis, and histological investigation showed monophasic proliferation of oval to spindle-shaped cells with a fascicular arrangement lacking an epithelial component. Immunostaining disclosed no cytokeratin or epithelial membrane antigen in tumour cells. Karyotypic analysis revealed translocation (X;18) in addition to other nonspecific aberrations. Fluorescence in situ hybridization was carried out on paraffin-embedded tissue, using DNA probes for the centromeres of chromosomes X and 18 with whole chromosome painting probes for X and 18. The free nuclei showed two signals at a rate of 83-85% with the X and 18 centromeric probes, in contrast to three signals at a rate of 68-70% with the X and 18 painting probes.

A practical approach to the clinical diagnosis of Ewing’s sarcoma/primitive neuroectodermal tumour and other small round cell tumours sharing EWS rearrangement using new fluorescence in situ hybridisation probes for EWSR1 on formalin fixed, paraffin wax embedded tissue

“…23 Several investigators have used the FISH technique to identify the 11;22 translocation in ES/PNETs. [5][6][7][8][9][10] However, most of these have been performed on cell lines or touch imprints and short term cultures, and sometimes centromeric and total probes need to be prepared or a computer based statistical analysis is required. These limit the routine clinical use of this technique, as discussed previously.…”

“…The application of fluorescence in situ hybridisation (FISH) methodology has resulted in a significant improvement in diagnostic ability with the establishment of specific DNA probes capable of detecting chromosomal aberrations in formalin fixed, paraffin wax embedded (FFPE) tissue in some soft tissue sarcomas. [3][4][5][6][7][8][9][10][11] Recently, probes adjoining or spanning the Ewing's sarcoma breakpoint region 1 (EWSR1) gene on 22q12 have been developed and used in FISH assays to detect this translocation, and provide a reliable, accurate, and relatively simple diagnostic approach on FFPE tissue. 5 7-11 However, there is still the need for more sensitive and specific probes, and the relatively costly and time consuming process needs to be adapted for routine clinical diagnosis.…”

CHROMOSOMAL REARRANGEMENT t(11;22) IN EXTRASKELETAL EWING'S SARCOMA AND PRIMITIVE NEUROECTODERMAL TUMOUR ANALYSED BY FLUORESCENCEIN SITU HYBRIDIZATION USING PARAFFIN-EMBEDDED TISSUE

“…[11][12][13][14][15] The use of total chromosome probes in combination with centromeric probes allows chromosomal analysis of translocation. Tumour cell nuclei are generally extracted and used to demonstrate an extra small signal with total chromosome probes when translocations are present.…”

“…FISH was performed essentially according to previous studies. 10,14,15 The following DNA probes were purchased from Oncor Inc. …”

“…11 Recently, tumour-specific translocations were analysed by FISH to determine the cytogenetic characteristics of a limited number of soft tissue sarcomas. [12][13][14][15] Immunohistological analysis of MIC 2 expression and FISH analysis were performed using formalin-fixed, paraffin-embedded tissues. We examined t (11;22) in nuclei of cells isolated from two ES, four PNET, and three neuroblastomas by FISH with an -satellite DNA probe for chromosome 11, a chromosome 22 marker probe for the q13.3 region, and whole chromosome painting probes for chromosomes 11 and 22.…”