title: The detection of Tel-TrkC chimeric transcripts is more specific than TrkC immunoreactivity for the diagnosis of congenital fibrosarcoma.
abstract: The t(12;15)(p13;q25) translocation, a recurrent chromosomal abnormality of congenital fibrosarcoma, leads to the expression of a Tel-TrkC fusion transcript. To determine whether detection of the chimeric protein may be helpful for the diagnosis of congenital fibrosarcoma, immunohistochemistry was performed with an anti-TrkC antibody on 26 spindle cell tumours of newborn or young children (n=19) or adults (n=7). Four out of five congenital fibrosarcomas showed TrkC immunoreactivity with cytoplasmic paranuclear staining. However, TrkC immunoreactivity was not restricted to congenital fibrosarcoma and was observed in infantile myofibromatosis, congenital haemangiopericytoma, desmoid tumour, nodular fasciitis, fibrous hamartoma, inflammatory myofibroblastic tumour, and adult fibrosarcoma. RT-PCR analysis was performed on nine cases, including four congenital fibrosarcomas, for which frozen material was available. Tel-TrkC transcripts were detected by RT-PCR in the four congenital fibrosarcomas analysed, but not in the five other spindle cell tumours. Furthermore, several Tel-TrkC transcripts encoding for kinase isoforms of the Tel-TrkC protein were detected in congenital fibrosarcoma and may be involved in oncogenesis. The reciprocal TrkC-Tel transcript was detected in only one congenital fibrosarcoma. While the detection of a Tel-TrkC fusion transcript is a recurrent feature of congenital fibrosarcoma, TrkC immunoreactivity does not appear specific for the diagnosis of fibromatous paediatric tumours.
authors.affiliation: Laboratoire d'Histologie-Embryologie, E.A. 2406, Université Victor Ségalen Bordeaux 2, 33076 Bordeaux, France.
authors.forename: P
authors.initials: P
authors.lastname: Dubus
authors.forename: J M
authors.initials: JM
authors.lastname: Coindre
authors.forename: A
authors.initials: A
authors.lastname: Groppi
authors.forename: H
authors.initials: H
authors.lastname: Jouan
authors.forename: J
authors.initials: J
authors.lastname: Ferrer
authors.forename: C
authors.initials: C
authors.lastname: Cohen
authors.forename: J
authors.initials: J
authors.lastname: Rivel
authors.forename: M C
authors.initials: MC
authors.lastname: Copin
authors.forename: J P
authors.initials: JP
authors.lastname: Leroy
authors.forename: A
authors.initials: A
authors.lastname: de Muret
authors.forename: J P
authors.initials: JP
authors.lastname: Merlio
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000378:metabolism*; D002881:Chromosomes, Human, Pair 12; D002884:Chromosomes, Human, Pair 15; D005354:Fibrosarcoma / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000378:metabolism; D015514:Oncogene Proteins, Fusion / Q000737:chemistry / Q000235:genetics*; D020812:Receptor, trkC / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; C409037:TEL-TRKC fusion protein, human; D020812:Receptor, trkC