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Titolo:
Molecular confirmation of Ewing sarcoma
Autore:
Dagher, R; Pham, TA; Sorbara, L; Kumar, S; Long, L; Bernstein, D; Mackall, C; Raffeld, M; Tsokos, M; Helman, L;
Indirizzi:
NCI, Pediat Oncol Branch, NIH, Bethesda, MD 20892 USA NCI Bethesda MD USA20892 ediat Oncol Branch, NIH, Bethesda, MD 20892 USA NCI, Pathol Lab, NIH, Bethesda, MD 20892 USA NCI Bethesda MD USA 20892NCI, Pathol Lab, NIH, Bethesda, MD 20892 USA
Titolo Testata:
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
fascicolo: 4, volume: 23, anno: 2001,
pagine: 221 - 224
SICI:
1077-4114(200105)23:4<221:MCOES>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYMERASE CHAIN-REACTION; CHIMERIC TRANSCRIPTS; EWS GENE; TRANSLOCATION; FAMILY; TUMORS; FUSION; FUSES;
Keywords:
Ewing sarcoma; polymerase chain reaction; translocation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Helman, L NCI, Pediat Oncol Branch, NIH, NIH Bldg 10,Room 13N240,10 Ctr Dr, Bethesda, MD 20892 USA NCI NIH Bldg 10,Room 13N240,10 Ctr Dr Bethesda MD USA 20892 USA
Citazione:
R. Dagher et al., "Molecular confirmation of Ewing sarcoma", J PED H ONC, 23(4), 2001, pp. 221-224

Abstract

Objective: To analyze retrospectively results of reverse transcription polymerase chain reaction (RT-PCR) testing and demographic information in patients with known or suspected Ewing sarcoma/primitive neuroectodermal tumor family of tumors referred to the National Cancer Institute and to describe factors influencing the determination of molecular marker status. Patients and Methods: Tumor samples from 76 patients from February 1997 toDecember 1999 were analyzed. In all cases, the diagnosis of this family oftumors was confirmed by histopathologic review. Results: In 58 patients, the presence of a translocation associated with this family of turners was confirmed using RT-PCR. Specifically, there were 45 Ewing sarcoma (EWS)-FLI type 1 translocations, four EWS-FLI type 2 translocations, five EWS-ERG translocations, and four less common EWS-FLI variants. Of patients with a confirmed translocation, four were confirmed only after nested RT-PCR techniques were used. In five patients who initially underwent needle biopsy, the diagnosis was confirmed only after open biopsy or repeat needle biopsy was undertaken. Samples from 18 patients were translocation-negative. Of these, seven samples were deemed inadequate for RT-PCR testing as a result of inappropriate tissue handling or the presence of necrotic material. Five patients were found to have a different diagnosis aftercomplete histopathologic and molecular characterization. Six samples remained, in which adequate tissue was obtained with no evidence of a characteristic translocation. Conclusions: In apparently translocation-negative samples, close attentionshould be given to the possibility of an alternative diagnosis, the potential need for nested RT-PCR, and the possibility of an inadequate sample. Strong consideration should be given to the use of open biopsy as opposed to needle biopsy to avoid the need for repeat biopsies and the potential for inaccurate assessment of molecular marker status.

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Documento generato il 04/04/20 alle ore 12:18:16