title: Distant metastatic spread of molecularly proven infantile fibrosarcoma of the chest in a 2-month-old girl: case report and review of literature.
abstract: Infantile fibrosarcoma (IFS) is a malignant neoplasm, arising in children younger than 2 years of age and with a hallmark chromosomal translocation t(12;15)(p13;q26) encoding an ETV6-NTRK3 fusion oncoprotein. A review of the world literature found no reported cases of molecularly proven IFS with distant metastatic spread at presentation. We report the case of a 2-month-old infant girl presenting with a chest wall primary IFS bearing and expressing the ETV6-NTRK3 fusion, who had several pulmonary metastatic deposits at diagnosis. She achieved complete remission with chemotherapy and surgery. To our knowledge, this is the first reported case of molecularly proven IFS with distant metastatic spread.
authors.affiliation: Departments of *Pediatric Oncology ‡Pathology, Great Ormond Street Hospital for Children NHS Trust §Unit of Molecular Hematology and Cancer Biology, Institute of Child Health, University College London, London, UK †Department of Pediatric Oncology/Hematology, Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands.
authors.forename: Martine
authors.initials: M
authors.lastname: van Grotel
authors.forename: Esther
authors.initials: E
authors.lastname: Blanco
authors.forename: Neil J
authors.initials: NJ
authors.lastname: Sebire
authors.forename: Olga
authors.initials: O
authors.lastname: Slater
authors.forename: Tanzina
authors.initials: T
authors.lastname: Chowdhury
authors.forename: John
authors.initials: J
authors.lastname: Anderson
mesh_terms: D003131:Combined Modality Therapy; D005260:Female; D005354:Fibrosarcoma / Q000235:genetics / Q000556:secondary* / Q000628:therapy; D006801:Humans; D007223:Infant; D008175:Lung Neoplasms / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D011379:Prognosis; D020812:Receptor, trkC; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D015514:Oncogene Proteins, Fusion; C484319:ETV6-NTRK3 fusion protein, human; D020812:Receptor, trkC; D000097764:ETS Translocation Variant 6 Protein