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Molecular detection of EWS-Ets fusion transcripts and their clinicopathologic significance in Ewing's sarcoma/peripheral primitive neuroectodermal tumor.
Chin Med J (Engl). 2005 Aug 20; 118(16):1323-9.CM

Abstract

BACKGROUND

Ewing's sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) is often difficult to distinguish from other small round cell tumors. The EWS-Ets gene fusions that result from chromosomal translocations in this tumor provide potential molecular diagnostic markers. To apply these molecular markers to commonly available archival materials, we evaluated the feasibility of detecting EWS-Ets including EWS-Fli1 and EWS-ERG fusion transcripts in paraffin-embedded tissues and its diagnostic value for detecting ES/pPNET.

METHODS

Thirteen paraffin-embedded samples of ES/pPNETs were retrieved from archives. Thirteen cases of other tumors with small round cell features (including rhabdomyosarcoma, neuroblastoma, lymphoma, small cell carcinoma, and desmoplastic small round cell tumor) were used as negative controls. Beta-actin and beta2-microglobulin were used as internal controls. A nested reverse transcriptase-polymerase chain reaction (RT-PCR)-based assay was performed to detect the EWS-Fli1 and EWS-ERG fusion transcripts.

RESULTS

Beta-actin and beta2-microglobulin were detected in 10/13 and 13/13 ES/pPNETs, respectively. EWS-Fli1 fusion transcripts were detected in 11 of 13 (85%) ES/pPNETs. Three chimeric transcripts, all EWS-Fli1, were detected in ES/pPNET samples. Among 11 EWS-Fli1-positive cases, 7 cases had a type I fusion transcript involving fusion of EWS exon 7 with Fli1 exon 6, 2 cases had a type II fusion transcript involving EWS exon 7 with Fli1 exon 5, and 2 cases expressed fusion transcripts involving EWS exon 7 and Fli1 exon 8. Type I EWS-Fli1 fusion predominated over other types. Fusion types could not be distinguished in the remaining 2 cases. Thirteen negative controls did not show detectable chimeric messages. There was a significant relationship between EWS-Fli1 fusion transcripts and CD99 expression.

CONCLUSIONS

Molecular detection of EWS-Fli1 fusion transcripts in formalin-fixed paraffin-embedded material by nested RT-PCR is feasible and is useful for the diagnosis and differential diagnosis of ES/pPNETs.

Authors+Show Affiliations

Department of Pathology, Peking University Health Science Center, Beijing 100083, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16157025

Citation

Wang, Hua, et al. "Molecular Detection of EWS-Ets Fusion Transcripts and Their Clinicopathologic Significance in Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor." Chinese Medical Journal, vol. 118, no. 16, 2005, pp. 1323-9.
Wang H, Zheng J, Wang YP, et al. Molecular detection of EWS-Ets fusion transcripts and their clinicopathologic significance in Ewing's sarcoma/peripheral primitive neuroectodermal tumor. Chin Med J (Engl). 2005;118(16):1323-9.
Wang, H., Zheng, J., Wang, Y. P., Yang, Y., & You, J. F. (2005). Molecular detection of EWS-Ets fusion transcripts and their clinicopathologic significance in Ewing's sarcoma/peripheral primitive neuroectodermal tumor. Chinese Medical Journal, 118(16), 1323-9.
Wang H, et al. Molecular Detection of EWS-Ets Fusion Transcripts and Their Clinicopathologic Significance in Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor. Chin Med J (Engl). 2005 Aug 20;118(16):1323-9. PubMed PMID: 16157025.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular detection of EWS-Ets fusion transcripts and their clinicopathologic significance in Ewing's sarcoma/peripheral primitive neuroectodermal tumor. AU - Wang,Hua, AU - Zheng,Jie, AU - Wang,Yu-ping, AU - Yang,Yu, AU - You,Jiang-feng, PY - 2005/9/15/pubmed PY - 2005/10/12/medline PY - 2005/9/15/entrez SP - 1323 EP - 9 JF - Chinese medical journal JO - Chin Med J (Engl) VL - 118 IS - 16 N2 - BACKGROUND: Ewing's sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) is often difficult to distinguish from other small round cell tumors. The EWS-Ets gene fusions that result from chromosomal translocations in this tumor provide potential molecular diagnostic markers. To apply these molecular markers to commonly available archival materials, we evaluated the feasibility of detecting EWS-Ets including EWS-Fli1 and EWS-ERG fusion transcripts in paraffin-embedded tissues and its diagnostic value for detecting ES/pPNET. METHODS: Thirteen paraffin-embedded samples of ES/pPNETs were retrieved from archives. Thirteen cases of other tumors with small round cell features (including rhabdomyosarcoma, neuroblastoma, lymphoma, small cell carcinoma, and desmoplastic small round cell tumor) were used as negative controls. Beta-actin and beta2-microglobulin were used as internal controls. A nested reverse transcriptase-polymerase chain reaction (RT-PCR)-based assay was performed to detect the EWS-Fli1 and EWS-ERG fusion transcripts. RESULTS: Beta-actin and beta2-microglobulin were detected in 10/13 and 13/13 ES/pPNETs, respectively. EWS-Fli1 fusion transcripts were detected in 11 of 13 (85%) ES/pPNETs. Three chimeric transcripts, all EWS-Fli1, were detected in ES/pPNET samples. Among 11 EWS-Fli1-positive cases, 7 cases had a type I fusion transcript involving fusion of EWS exon 7 with Fli1 exon 6, 2 cases had a type II fusion transcript involving EWS exon 7 with Fli1 exon 5, and 2 cases expressed fusion transcripts involving EWS exon 7 and Fli1 exon 8. Type I EWS-Fli1 fusion predominated over other types. Fusion types could not be distinguished in the remaining 2 cases. Thirteen negative controls did not show detectable chimeric messages. There was a significant relationship between EWS-Fli1 fusion transcripts and CD99 expression. CONCLUSIONS: Molecular detection of EWS-Fli1 fusion transcripts in formalin-fixed paraffin-embedded material by nested RT-PCR is feasible and is useful for the diagnosis and differential diagnosis of ES/pPNETs. SN - 0366-6999 UR - https://www.unboundmedicine.com/medline/citation/16157025/Molecular_detection_of_EWS_Ets_fusion_transcripts_and_their_clinicopathologic_significance_in_Ewing's_sarcoma/peripheral_primitive_neuroectodermal_tumor_ L2 - http://www.diseaseinfosearch.org/result/2666 DB - PRIME DP - Unbound Medicine ER -