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.

journal_name

Pediatr Surg Int

authors

Berrebi D,Fournet JC,Boman F,Fabre M,Philippe-Chomette P,Branchereau S,Fréneaux P,Bouron-Dal Soglio D,Michon J,Peuchmaur M

doi

10.1007/s00383-015-3670-7

subject

Has Abstract

pub_date

2015-04-01 00:00:00

pages

375-9

issue

4

eissn

0179-0358

issn

1437-9813

journal_volume

31

pub_type

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