Congenital-infantile fibrosarcoma - A clinicopathologic study of 10 cases and molecular detection of the ETV6-NTRK3 fusion transcripts using paraffin-embedded tissues

Citation
Wq. Sheng et al., Congenital-infantile fibrosarcoma - A clinicopathologic study of 10 cases and molecular detection of the ETV6-NTRK3 fusion transcripts using paraffin-embedded tissues, AM J CLIN P, 115(3), 2001, pp. 348-355
Citations number
38
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Medical Research Diagnosis & Treatment
Volume
115
Issue
3
Year of publication
2001
Pages
348 - 355
Database
ISI
SICI code
Abstract
Congenital-infantile fibrosarcoma (CIFS) is a relatively indolent sarcoma t hat should be distinguished from more aggressive spindle cell sarcomas of c hildhood. CIFSs have been found to have a novel recurrent reciprocal transl ocation t(12;15)(p13;q25) resulting in the gene fusion ETV6-NTRK3 (ETS vari ant gene 6; neurotrophic tyrosine kinase receptor type 3). We studied immun ohistochemical expression of NTRK3, and conducted a reverse transcription-p olymerase chain reaction (RT-PCR) assay to detect the ETV6-NTRK3 fusion tra nscripts using archival formalin-fixed paraffin-embedded tissues from 10 CI FSs. Thirty-eight other spindle cell tumors were included as controls. The ETV6-NTRK3 fusion transcripts were identified in 7 (70%) of 10 CIFSs. N ucleotide sequence analysis showed that the fusion occurred between ETV6 ex on 5 and NTRK3 exon 13. The 38 control tumors were negative for the fusion transcript. Immunohistochemically CIFSs consistently expressed NTRK3. But t he expression of NTRK3 also was observed in 22 of 38 control tumors. These results show the diagnostic usefulness of RT-PCR methods to detect ETV6-NTR K3 fusion transcripts in archival formalin-fixed paraffin-embedded tissue a nd the important role of NTRK3 in the development of CIFS, despite its bein g a protein of little importance in differential diagnosis.