title: Intestinal congenital/infantile fibrosarcoma: a new clinico-pathological entity?
abstract: Congenital/infantile fibrosarcoma (IFS) is a relatively rare form of fibrosarcoma diagnosed at birth or during early years of life and that differs from its adult counterpart because of a more favorable behavior. IFS is also known as cellular congenital mesoblastic nephroma, when it affects the kidney and is often but not always characterized by the ETV6-NTRK3 fusion transcript. We report herein the first series of an exceptional tumor of the small intestine occurring in newborns. The four patients shared a stereotyped clinico-pathological presentation with early and acute onset, intestinal perforation, and an infiltration by a highly cellular spindle cell tumor within the dilated intestinal wall exhibiting pathologic features typical of IFS. Molecular studies for the ETV6-NTRK3 translocation were negative in the three cases tested. Patients were treated by surgical wide resection alone and are alive and well (follow-up: 36 months-25 years). Thus, this new clinico-pathological entity, even with lack of documented evidence of the ETV6-NTRK3 translocation, should be included in the differential diagnosis of congenital bowel perforation or obstruction and may represent an intestinal counterpart of IFS.
authors: Department of Pathology, Univ Paris Diderot, Sorbonnne Paris Cité, 75019, Paris, France, dominique.berrebi@rdb.aphp.fr.
authors: Dominique
authors: D
authors: Berrebi
authors: Jean-Christophe
authors: JC
authors: Fournet
authors: Françoise
authors: F
authors: Boman
authors: Monique
authors: M
authors: Fabre
authors: Pascale
authors: P
authors: Philippe-Chomette
authors: Sophie
authors: S
authors: Branchereau
authors: Paul
authors: P
authors: Fréneaux
authors: Dorothée
authors: D
authors: Bouron-Dal Soglio
authors: Jean
authors: J
authors: Michon
authors: Michel
authors: M
authors: Peuchmaur
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D005354:Fibrosarcoma / Q000151:congenital* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007414:Intestinal Neoplasms / Q000151:congenital* / Q000473:pathology; D007421:Intestine, Small / Q000473:pathology*; D008297:Male
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