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Detection of EWS-FLI-1 fusion in Ewing's sarcoma/peripheral primitive neuroectodermal tumor by fluorescence in situ hybridization using formalin-fixed paraffin-embedded tissue.
Hum Pathol. 1999 Mar; 30(3):324-30.HP

Abstract

The balanced translocation t(11;22)(q24;q12) is specific for the Ewing's sarcoma/peripheral primitive neuroectodermal tumors (ES/PNETs) and results in the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription polymerase chain reaction (RT-PCR). Recent studies also have used fluorescence in situ hybridization (FISH) to show the translocation; however, most of these have been performed on cell lines or touch preparations and short-term cultures of tumors. Moreover, the existing probes generally have shown only the break in the specific chromosomes rather than the translocation itself. We describe our findings with a new set of probes that localize to 22q12 (EWS) and 11q24 (FLI-1) and directly show the translocation as juxtaposed red-green signals on der(22) in nuclei extracted from formalin-fixed, paraffm-embedded tissues. After establishing the specificity of the probes (on metaphase spreads and interphase nuclei in two translocation-positive cell lines and normal peripheral blood lymphocytes), we evaluated 11 ES/PNETs and 10 other tumors (four alveolar rhabdomyosarcomas, three neuroblastomas, two lymphomas, one extramedullary myeloid tumor) using a two-color FISH assay. All 11 ES/PNETs showed fusion signals in 20% to 80% of evaluable nuclei. In two lymphoma cases, random overlapping signals were present in 2% and 4% of nuclei, whereas the remaining eight tumors were negative. The presence of t(11;22) was confirmed by RT-PCR in 10 of 11 ES/PNETs. We conclude that FISH analysis with this newly designed probe pair is a specific and sensitive method of detecting t(11;22) on routinely processed tissue and can be useful in the differential diagnosis of ES/PNETs from other small round blue cell tumors when only fixed tissue is available.

Authors+Show Affiliations

Laboratory of Pathology, National Cancer Institute, and Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-1500, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10088552

Citation

Kumar, S, et al. "Detection of EWS-FLI-1 Fusion in Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor By Fluorescence in Situ Hybridization Using Formalin-fixed Paraffin-embedded Tissue." Human Pathology, vol. 30, no. 3, 1999, pp. 324-30.
Kumar S, Pack S, Kumar D, et al. Detection of EWS-FLI-1 fusion in Ewing's sarcoma/peripheral primitive neuroectodermal tumor by fluorescence in situ hybridization using formalin-fixed paraffin-embedded tissue. Hum Pathol. 1999;30(3):324-30.
Kumar, S., Pack, S., Kumar, D., Walker, R., Quezado, M., Zhuang, Z., Meltzer, P., & Tsokos, M. (1999). Detection of EWS-FLI-1 fusion in Ewing's sarcoma/peripheral primitive neuroectodermal tumor by fluorescence in situ hybridization using formalin-fixed paraffin-embedded tissue. Human Pathology, 30(3), 324-30.
Kumar S, et al. Detection of EWS-FLI-1 Fusion in Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor By Fluorescence in Situ Hybridization Using Formalin-fixed Paraffin-embedded Tissue. Hum Pathol. 1999;30(3):324-30. PubMed PMID: 10088552.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Detection of EWS-FLI-1 fusion in Ewing's sarcoma/peripheral primitive neuroectodermal tumor by fluorescence in situ hybridization using formalin-fixed paraffin-embedded tissue. AU - Kumar,S, AU - Pack,S, AU - Kumar,D, AU - Walker,R, AU - Quezado,M, AU - Zhuang,Z, AU - Meltzer,P, AU - Tsokos,M, PY - 1999/3/24/pubmed PY - 1999/3/24/medline PY - 1999/3/24/entrez SP - 324 EP - 30 JF - Human pathology JO - Hum Pathol VL - 30 IS - 3 N2 - The balanced translocation t(11;22)(q24;q12) is specific for the Ewing's sarcoma/peripheral primitive neuroectodermal tumors (ES/PNETs) and results in the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription polymerase chain reaction (RT-PCR). Recent studies also have used fluorescence in situ hybridization (FISH) to show the translocation; however, most of these have been performed on cell lines or touch preparations and short-term cultures of tumors. Moreover, the existing probes generally have shown only the break in the specific chromosomes rather than the translocation itself. We describe our findings with a new set of probes that localize to 22q12 (EWS) and 11q24 (FLI-1) and directly show the translocation as juxtaposed red-green signals on der(22) in nuclei extracted from formalin-fixed, paraffm-embedded tissues. After establishing the specificity of the probes (on metaphase spreads and interphase nuclei in two translocation-positive cell lines and normal peripheral blood lymphocytes), we evaluated 11 ES/PNETs and 10 other tumors (four alveolar rhabdomyosarcomas, three neuroblastomas, two lymphomas, one extramedullary myeloid tumor) using a two-color FISH assay. All 11 ES/PNETs showed fusion signals in 20% to 80% of evaluable nuclei. In two lymphoma cases, random overlapping signals were present in 2% and 4% of nuclei, whereas the remaining eight tumors were negative. The presence of t(11;22) was confirmed by RT-PCR in 10 of 11 ES/PNETs. We conclude that FISH analysis with this newly designed probe pair is a specific and sensitive method of detecting t(11;22) on routinely processed tissue and can be useful in the differential diagnosis of ES/PNETs from other small round blue cell tumors when only fixed tissue is available. SN - 0046-8177 UR - https://www.unboundmedicine.com/medline/citation/10088552/Detection_of_EWS_FLI_1_fusion_in_Ewing's_sarcoma/peripheral_primitive_neuroectodermal_tumor_by_fluorescence_in_situ_hybridization_using_formalin_fixed_paraffin_embedded_tissue_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0046-8177(99)90012-6 DB - PRIME DP - Unbound Medicine ER -