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Published on: June 27, 2020
[Detection of EWS-WT1 fusion transcripts in paraffin-embedded tissues for desmoplastic small round cell tumor]
Yu Yang1, Hua Wang, Yu-ping Wang
1Department of Pathology, Peking University School of Basic Medical Sciences, Beijing 100083, China.
Objective:
To detect the EWS-WT1 chimeric mRNA in desmoplastic small round cell tumor (DSRCT) and its clinicopathological significance.
Methods:
Formalin fixed, paraffin-embedded tumor specimens from 4 examples of this entity were studied by reverse transcriptase polymerase chain reaction to detect the EWS-WT1 fusion transcripts resulting from the chromosomal translocation t(11;22)(p13;q12). The following tumor specimens were included as controls: 2 Ewing's sarcomas/primitive neuroectodermal tumors (PNET/ES), 2 alveolar rhabdomyosarcomas, and 2 lymphomas.
Results:
EWS-WT1 fusion transcripts were detected in 3 of 4 desmoplastic small round cell tumors but not in any other tumor types studied as controls.
Conclusion:
The analysis of the EWS-WT1 fusion transcript which was performed on formalin-fixed, paraffin-embedded tissues is a sensitive and specific method in the diagnosis and differential diagnosis of DSRCT.
Insights
Detecting the EWS-WT1 fusion transcript in desmoplastic small round cell tumors (DSRCT) is a sensitive diagnostic method. This molecular marker aids in distinguishing DSRCT from other rare tumors.
Area of Science:
- Molecular pathology
- Oncology
- Genetics
Context:
- Desmoplastic small round cell tumors (DSRCT) are rare and aggressive neoplasms.
- Accurate diagnosis is crucial for appropriate treatment and prognosis.
- The EWS-WT1 fusion transcript, resulting from a specific chromosomal translocation t(11;22), is a known hallmark of DSRCT.
Purpose:
- To investigate the presence and diagnostic utility of the EWS-WT1 chimeric mRNA in DSRCT.
- To evaluate the clinicopathological significance of detecting this fusion transcript.
- To assess the efficacy of reverse transcriptase polymerase chain reaction (RT-PCR) for detecting EWS-WT1 in formalin-fixed, paraffin-embedded tissues.
Summary:
- Reverse transcriptase polymerase chain reaction (RT-PCR) was employed to detect EWS-WT1 fusion transcripts in four DSRCT specimens.
- The EWS-WT1 fusion transcript was identified in three out of four DSRCT cases.
- Control specimens, including Ewing's sarcomas/primitive neuroectodermal tumors (PNET/ES), alveolar rhabdomyosarcomas, and lymphomas, did not exhibit the EWS-WT1 fusion transcript.
Impact:
- The detection of the EWS-WT1 fusion transcript is a highly sensitive and specific molecular marker for DSRCT.
- This molecular analysis, performed on routinely processed formalin-fixed, paraffin-embedded tissues, provides a valuable tool for the diagnosis and differential diagnosis of DSRCT.
- The findings support the integration of molecular diagnostics in the management of DSRCT.
