title: Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review.
abstract: Congenital fibrosarcoma is a rare, soft tissue malignancy of infancy, most commonly involving the distal extremities. We report a case of congenital fibrosarcoma of the ileum in a 5-day-old boy who presented with an acute abdomen due to ileal perforation. Partial ileal resection was carried out with successful anastomosis. Grossly, the resected small bowel showed focal luminal stenosis with a thickened, indurated wall. Histology showed a transmural primitive spindle cell proliferation with a morphology consistent with congenital fibrosarcoma. The associated hallmark chromosomal translocation t(12;15)(q13;q25) was demonstrated by reverse transcriptase polymerase chain reaction.
authors.affiliation: Department of Pathology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
authors.forename: Hala
authors.initials: H
authors.lastname: Rizkalla
authors.forename: Heather
authors.initials: H
authors.lastname: Wildgrove
authors.forename: Feargal
authors.initials: F
authors.lastname: Quinn
authors.forename: Michael
authors.initials: M
authors.lastname: Capra
authors.forename: Maureen J
authors.initials: MJ
authors.lastname: O'Sullivan
mesh_terms: D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005354:Fibrosarcoma / Q000151:congenital* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D006801:Humans; D007078:Ileal Neoplasms / Q000151:congenital* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D007231:Infant, Newborn; D007416:Intestinal Perforation / Q000209:etiology / Q000601:surgery; D008297:Male; D050596:Oncogene Fusion; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D014178:Translocation, Genetic; 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