TY - JOUR
T1 - Congenital-Infantile Fibrosarcoma
T2 - A Clinicopathologic Study of 10 Cases and Molecular Detection of the ETV6-NTRK3 Fusion Transcripts Using Paraffin-Embedded Tissues
AU - Sheng, Wei Qi
AU - Hisaoka, Masanori
AU - Okamoto, Sumika
AU - Tanaka, Atsuko
AU - Meis-Kindblom, Jeanne M.
AU - Kindblom, Lars Gunnar
AU - Ishida, Tsuyoshi
AU - Nojima, Takayuki
AU - Hashimoto, Hiroshi
PY - 2001/3
Y1 - 2001/3
N2 - Congenital-infantile fibrosarcoma (CIFS) is a relatively indolent sarcoma that should be distinguished from more aggressive spindle cell sarcomas of childhood. CIFSs have been found to have a novel recurrent reciprocal translocation t(12;15)(p13;q25) resulting in the gene fusion ETV6-NTRK3 (ETS variant gene 6; neurotrophic tyrosine kinase receptor type 3). We studied immunohistochemical expression of NTRK3, and conducted a reverse transcription-polymerase chain reaction (RT-PCR) assay to detect the ETV6-NTRK3 fusion transcripts using archival formalin-fixed paraffin-embedded tissues from 10 CIFSs. Thirty-eight other spindle cell tumors were included as controls. The ETV6-NTRK3 fusion transcripts were identified in 7 (70%) of 10 CIFSs. Nucleotide sequence analysis showed that the fusion occurred between ETV6 exon 5 and NTRK3 exon 13. The 38 control tumors were negative for the fusion transcript. Immunohistochemically, CIFSs consistently expressed NTRK3. But the 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-NTRK3 fusion transcripts in archival formalin-fixed paraffin-embedded tissue and the important role of NTRK3 in the development of CIFS, despite its being a protein of little importance in differential diagnosis.
AB - Congenital-infantile fibrosarcoma (CIFS) is a relatively indolent sarcoma that should be distinguished from more aggressive spindle cell sarcomas of childhood. CIFSs have been found to have a novel recurrent reciprocal translocation t(12;15)(p13;q25) resulting in the gene fusion ETV6-NTRK3 (ETS variant gene 6; neurotrophic tyrosine kinase receptor type 3). We studied immunohistochemical expression of NTRK3, and conducted a reverse transcription-polymerase chain reaction (RT-PCR) assay to detect the ETV6-NTRK3 fusion transcripts using archival formalin-fixed paraffin-embedded tissues from 10 CIFSs. Thirty-eight other spindle cell tumors were included as controls. The ETV6-NTRK3 fusion transcripts were identified in 7 (70%) of 10 CIFSs. Nucleotide sequence analysis showed that the fusion occurred between ETV6 exon 5 and NTRK3 exon 13. The 38 control tumors were negative for the fusion transcript. Immunohistochemically, CIFSs consistently expressed NTRK3. But the 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-NTRK3 fusion transcripts in archival formalin-fixed paraffin-embedded tissue and the important role of NTRK3 in the development of CIFS, despite its being a protein of little importance in differential diagnosis.
KW - Congenital-infantile fibrosarcoma
KW - ETV6-NTRK3 fusion transcripts
KW - Immunohistochemistry
KW - NTRK3
KW - RT-PCR
KW - Reverse transcription-polymerase chain reaction
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U2 - 10.1309/3H24-E7T7-V37G-AKKQ
DO - 10.1309/3H24-E7T7-V37G-AKKQ
M3 - Article
C2 - 11242790
AN - SCOPUS:0035289271
SN - 0002-9173
VL - 115
SP - 348
EP - 355
JO - American journal of clinical pathology
JF - American journal of clinical pathology
IS - 3
ER -