An infant with ETV6-NTRK3 fusion-positive congenital infantile fibrosarcoma and delayed response to conventional chemotherapy avoiding the need for TRK inhibition.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Abstract
We present an infant with ETV6-NTRK3 fusion-positive congenital-infantile-fibrosarcoma (CIFS) and very delayed response to conventional chemotherapy, avoiding TRK-inhibition. Although CIFS is rare, it represents one of the commonest non-rhabdomyosarcoma soft-tissue-sarcomas in infancy and whilst potentially highly-aggressive locally, they infrequently metastasize (1-13%) and carry favorable overall-survival[1]. Hallmark ETV6-NTRK fusions are present in 87% of CIFS[1], as well as in congenital-mesoblastic-nephroma[2] and leukemia[3]. The European-pediatric-Soft-tissue-sarcoma-Study-Group (EpSSG) developed therapeutic recommendations for CIFS according to resectability at initial presentation[1]. Complete macroscopic resection is first-line treatment and where not possible, systemic treatment with Vincristine/Actinomycin (VA) chemotherapy is standard[1,4], with good rates of response using RECIST criteria[5] and survival[1]. Interestingly, spontaneous regression of CIFS has also been reported[6,7], possibly related to the high apoptotic and low proliferative index in infantile tumors[8].
Description
Keywords
Journal Title
Conference Name
Journal ISSN
1545-5017
Volume Title
Publisher
Publisher DOI
Rights
Sponsorship
Medical Research Council (MC_PC_17230)