Peripheral primitive neuroectodermal tumors in adults: Documentation by molecular analysis

Elizabeth R. Lawlor, Joan A. Mathers, Terry Bainbridge, Doug E. Horsman, Akira Kawai, John H. Healey, Andrew G. Huvos, Julia A. Bridge, Marc Ladanyi, Poul H.B. Sorensen

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Purpose: The Ewing tumor (ET) family of peripheral primitive neuroectodermal tumors (pPNETs) are primitive small round-cell tumors (SRCTs) of the bone and soft tissue that occur predominantly in children and adolescents. However, pPNETs only rarely enter the differential diagnosis of bone and soft tissue SRCTs in adults. Recently, gene fusions between the EWS gene and different members of the ETS transcription factor family have been shown to occur in virtually all pPNETs and thus constitute a pathognomonic marker far this tumor subclass. The aim of the present study was to document EWS/ETS fusion gene expression in suspected pPNETs of adults as objective evidence for the existence of this tumor family in older patients. Patients and Methods: The three contributing molecular diagnostic laboratories retrospectively compiled a cohort of all SRCT cases in which EWS/ETS gene fusions had been shown molecular analysis. This cohort was surveyed for cases that occurred in patients aged 40 years or older, which were then analyzed far their CIinical and pathologic features. Results: Nine patients between 40 and 65 years of age were found to have tumors positive far EWS/ETS gene fusions. Standard histopathologic and CIinical features of these cases, other than age, were similar to those of childhood pPNETs. Patients were initiated on appropriate therapy after molecular analysis confirmed the diagnosis of pPNET. Conclusion: Identification of an EWS/ETS gene fusion is useful in providing objective evidence of the diagnosis of pPNET in patients over the age of 40 years. This diagnosis should be considered in adults who present with bone and soft tissue SRCTs and appropriate biopsy specimens should be collected far molecular analysis at the time of diagnosis.

Original languageEnglish (US)
Pages (from-to)1150-1157
Number of pages8
JournalJournal of Clinical Oncology
Volume16
Issue number3
DOIs
StatePublished - Mar 1998

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Peripheral Primitive Neuroectodermal Tumors
Documentation
Gene Fusion
Neoplasms
Bone and Bones
Ewing's Sarcoma
Molecular Pathology
Tumor Biomarkers
Differential Diagnosis
Transcription Factors
Biopsy
Gene Expression

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Lawlor, E. R., Mathers, J. A., Bainbridge, T., Horsman, D. E., Kawai, A., Healey, J. H., ... Sorensen, P. H. B. (1998). Peripheral primitive neuroectodermal tumors in adults: Documentation by molecular analysis. Journal of Clinical Oncology, 16(3), 1150-1157. https://doi.org/10.1200/JCO.1998.16.3.1150

Peripheral primitive neuroectodermal tumors in adults : Documentation by molecular analysis. / Lawlor, Elizabeth R.; Mathers, Joan A.; Bainbridge, Terry; Horsman, Doug E.; Kawai, Akira; Healey, John H.; Huvos, Andrew G.; Bridge, Julia A.; Ladanyi, Marc; Sorensen, Poul H.B.

In: Journal of Clinical Oncology, Vol. 16, No. 3, 03.1998, p. 1150-1157.

Research output: Contribution to journalArticle

Lawlor, ER, Mathers, JA, Bainbridge, T, Horsman, DE, Kawai, A, Healey, JH, Huvos, AG, Bridge, JA, Ladanyi, M & Sorensen, PHB 1998, 'Peripheral primitive neuroectodermal tumors in adults: Documentation by molecular analysis', Journal of Clinical Oncology, vol. 16, no. 3, pp. 1150-1157. https://doi.org/10.1200/JCO.1998.16.3.1150
Lawlor, Elizabeth R. ; Mathers, Joan A. ; Bainbridge, Terry ; Horsman, Doug E. ; Kawai, Akira ; Healey, John H. ; Huvos, Andrew G. ; Bridge, Julia A. ; Ladanyi, Marc ; Sorensen, Poul H.B. / Peripheral primitive neuroectodermal tumors in adults : Documentation by molecular analysis. In: Journal of Clinical Oncology. 1998 ; Vol. 16, No. 3. pp. 1150-1157.
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abstract = "Purpose: The Ewing tumor (ET) family of peripheral primitive neuroectodermal tumors (pPNETs) are primitive small round-cell tumors (SRCTs) of the bone and soft tissue that occur predominantly in children and adolescents. However, pPNETs only rarely enter the differential diagnosis of bone and soft tissue SRCTs in adults. Recently, gene fusions between the EWS gene and different members of the ETS transcription factor family have been shown to occur in virtually all pPNETs and thus constitute a pathognomonic marker far this tumor subclass. The aim of the present study was to document EWS/ETS fusion gene expression in suspected pPNETs of adults as objective evidence for the existence of this tumor family in older patients. Patients and Methods: The three contributing molecular diagnostic laboratories retrospectively compiled a cohort of all SRCT cases in which EWS/ETS gene fusions had been shown molecular analysis. This cohort was surveyed for cases that occurred in patients aged 40 years or older, which were then analyzed far their CIinical and pathologic features. Results: Nine patients between 40 and 65 years of age were found to have tumors positive far EWS/ETS gene fusions. Standard histopathologic and CIinical features of these cases, other than age, were similar to those of childhood pPNETs. Patients were initiated on appropriate therapy after molecular analysis confirmed the diagnosis of pPNET. Conclusion: Identification of an EWS/ETS gene fusion is useful in providing objective evidence of the diagnosis of pPNET in patients over the age of 40 years. This diagnosis should be considered in adults who present with bone and soft tissue SRCTs and appropriate biopsy specimens should be collected far molecular analysis at the time of diagnosis.",
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AU - Kawai, Akira

AU - Healey, John H.

AU - Huvos, Andrew G.

AU - Bridge, Julia A.

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