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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

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Type

Article

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Authors

Vedi, Aditi 
Holland, Katherine 
Cross, Justin 
Muthusamy, Brinda 
Behjati, Sam 

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

Antineoplastic Combined Chemotherapy Protocols, Cyclophosphamide, Dactinomycin, Fibrosarcoma, Humans, Infant, Oncogene Proteins, Fusion, Prognosis, Protein Kinase Inhibitors, Vincristine

Journal Title

Pediatr Blood Cancer

Conference Name

Journal ISSN

1545-5009
1545-5017

Volume Title

67

Publisher

Wiley

Rights

All rights reserved
Sponsorship
Medical Research Council (MC_PC_12009)
Medical Research Council (MC_PC_17230)