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Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor? A report of four cases showing this transcript in a wider range of tumor types.
Am J Pathol. 1996 Apr; 148(4):1125-38.AJ

Abstract

The presence of t(11;22)(q24;q12) is often considered diagnostic of Ewing sarcoma and peripheral primitive neuroectodermal tumor. We report four cases, all of which possessed this translocation as detected by reverse transcriptase polymerase chain reaction and confirmed by sequencing with or without fluorescent in situ hybridization, but none of which were Ewing sarcoma or peripheral primitive neuroectodermal tumor by histological criteria. Two were polyphenotypic tumors and two were mixed embryonal and alveolar rhabdomyosarcomas. Only one case was positive for MIC2 by immunohistochemistry and only in a rare cell. Two cases (one polyphenotypic tumor and one rhabdomyosarcoma) had double minute chromosomes with > 100 copies of the MDM2 gene. The presence of the t(11;22)(q24;ql2) translocation should probably not be considered diagnostic of Ewing sarcoma and peripheral primitive neuroectodermal tumor in the absence of supporting histological evidence. The presence of this translocation in Ewing sarcoma and peripheral primitive neuroectodermal tumor has been taken as evidence that these two tumors are related. Extending this relationship to include some polyphenotypic tumors and some rhabdomyosarcomas may not be justified unless additional evidence is gathered. Pathologists and oncologists will need to decide whether treatment regimens for tumors are better based on phenotype rather than genotype when these two profiles are seemingly in conflict.

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Authors+Show Affiliations

Thorner P
Department of Pathology, The Hospital for Sick Children, Toronto, Canada.
Squire J
No affiliation info available
Chilton-MacNeil S
No affiliation info available
Marrano P
No affiliation info available
Bayani J
No affiliation info available
Malkin D
No affiliation info available
Greenberg M
No affiliation info available
Lorenzana A
No affiliation info available
Zielenska M
No affiliation info available

MeSH

Abdominal NeoplasmsBiomarkers, TumorBone NeoplasmsBrain NeoplasmsChild, PreschoolDNA-Binding ProteinsDiagnosis, DifferentialFemaleGenetic MarkersHumansInfantMaleNeuroectodermal Tumors, PrimitivePolymerase Chain ReactionProto-Oncogene Protein c-fli-1Proto-Oncogene ProteinsSarcoma, EwingTrans-ActivatorsTranscription, Genetic

Pub Type(s)

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

Language

eng

PubMed ID

8644855

Citation

Thorner, P, et al. "Is the EWS/FLI-1 Fusion Transcript Specific for Ewing Sarcoma and Peripheral Primitive Neuroectodermal Tumor? a Report of Four Cases Showing This Transcript in a Wider Range of Tumor Types." The American Journal of Pathology, vol. 148, no. 4, 1996, pp. 1125-38.
Thorner P, Squire J, Chilton-MacNeil S, et al. Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor? A report of four cases showing this transcript in a wider range of tumor types. Am J Pathol. 1996;148(4):1125-38.
Thorner, P., Squire, J., Chilton-MacNeil, S., Marrano, P., Bayani, J., Malkin, D., Greenberg, M., Lorenzana, A., & Zielenska, M. (1996). Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor? A report of four cases showing this transcript in a wider range of tumor types. The American Journal of Pathology, 148(4), 1125-38.
Thorner P, et al. Is the EWS/FLI-1 Fusion Transcript Specific for Ewing Sarcoma and Peripheral Primitive Neuroectodermal Tumor? a Report of Four Cases Showing This Transcript in a Wider Range of Tumor Types. Am J Pathol. 1996;148(4):1125-38. PubMed PMID: 8644855.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor? A report of four cases showing this transcript in a wider range of tumor types. AU - Thorner,P, AU - Squire,J, AU - Chilton-MacNeil,S, AU - Marrano,P, AU - Bayani,J, AU - Malkin,D, AU - Greenberg,M, AU - Lorenzana,A, AU - Zielenska,M, PY - 1996/4/1/pubmed PY - 1996/4/1/medline PY - 1996/4/1/entrez SP - 1125 EP - 38 JF - The American journal of pathology JO - Am. J. Pathol. VL - 148 IS - 4 N2 - The presence of t(11;22)(q24;q12) is often considered diagnostic of Ewing sarcoma and peripheral primitive neuroectodermal tumor. We report four cases, all of which possessed this translocation as detected by reverse transcriptase polymerase chain reaction and confirmed by sequencing with or without fluorescent in situ hybridization, but none of which were Ewing sarcoma or peripheral primitive neuroectodermal tumor by histological criteria. Two were polyphenotypic tumors and two were mixed embryonal and alveolar rhabdomyosarcomas. Only one case was positive for MIC2 by immunohistochemistry and only in a rare cell. Two cases (one polyphenotypic tumor and one rhabdomyosarcoma) had double minute chromosomes with > 100 copies of the MDM2 gene. The presence of the t(11;22)(q24;ql2) translocation should probably not be considered diagnostic of Ewing sarcoma and peripheral primitive neuroectodermal tumor in the absence of supporting histological evidence. The presence of this translocation in Ewing sarcoma and peripheral primitive neuroectodermal tumor has been taken as evidence that these two tumors are related. Extending this relationship to include some polyphenotypic tumors and some rhabdomyosarcomas may not be justified unless additional evidence is gathered. Pathologists and oncologists will need to decide whether treatment regimens for tumors are better based on phenotype rather than genotype when these two profiles are seemingly in conflict. SN - 0002-9440 UR - https://www.unboundmedicine.com/medline/citation/8644855/Is_the_EWS/FLI_1_fusion_transcript_specific_for_Ewing_sarcoma_and_peripheral_primitive_neuroectodermal_tumor_A_report_of_four_cases_showing_this_transcript_in_a_wider_range_of_tumor_types_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/8644855/ DB - PRIME DP - Unbound Medicine ER -