Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review.

Hdl Handle:
http://hdl.handle.net/10147/207389
Title:
Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review.
Authors:
Rizkalla, Hala; Wildgrove, Heather; Quinn, Feargal; Capra, Michael; O'Sullivan, Maureen J
Affiliation:
Department of Pathology, Our Lady's Children's Hospital, Crumlin, Dublin,, Ireland.
Citation:
Fetal Pediatr Pathol. 2011;30(3):156-60. Epub 2011 Feb 28.
Journal:
Fetal and pediatric pathology
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207389
DOI:
10.3109/15513815.2010.547554
PubMed ID:
21355680
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.
Language:
eng
MeSH:
Chromosomes, Human, Pair 12/genetics; Chromosomes, Human, Pair 15/genetics; Fibrosarcoma/*congenital/genetics/pathology/surgery; Humans; Ileal Neoplasms/*congenital/genetics/pathology/surgery; Infant, Newborn; Intestinal Perforation/etiology/surgery; Male; Oncogene Fusion; Oncogene Proteins, Fusion/genetics; Translocation, Genetic
ISSN:
1551-3823 (Electronic); 1551-3815 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorRizkalla, Halaen_GB
dc.contributor.authorWildgrove, Heatheren_GB
dc.contributor.authorQuinn, Feargalen_GB
dc.contributor.authorCapra, Michaelen_GB
dc.contributor.authorO'Sullivan, Maureen Jen_GB
dc.date.accessioned2012-02-01T10:23:46Z-
dc.date.available2012-02-01T10:23:46Z-
dc.date.issued2012-02-01T10:23:46Z-
dc.identifier.citationFetal Pediatr Pathol. 2011;30(3):156-60. Epub 2011 Feb 28.en_GB
dc.identifier.issn1551-3823 (Electronic)en_GB
dc.identifier.issn1551-3815 (Linking)en_GB
dc.identifier.pmid21355680en_GB
dc.identifier.doi10.3109/15513815.2010.547554en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207389-
dc.description.abstractCongenital 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.en_GB
dc.language.isoengen_GB
dc.subject.meshChromosomes, Human, Pair 12/geneticsen_GB
dc.subject.meshChromosomes, Human, Pair 15/geneticsen_GB
dc.subject.meshFibrosarcoma/*congenital/genetics/pathology/surgeryen_GB
dc.subject.meshHumansen_GB
dc.subject.meshIleal Neoplasms/*congenital/genetics/pathology/surgeryen_GB
dc.subject.meshInfant, Newbornen_GB
dc.subject.meshIntestinal Perforation/etiology/surgeryen_GB
dc.subject.meshMaleen_GB
dc.subject.meshOncogene Fusionen_GB
dc.subject.meshOncogene Proteins, Fusion/geneticsen_GB
dc.subject.meshTranslocation, Geneticen_GB
dc.titleCongenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review.en_GB
dc.contributor.departmentDepartment of Pathology, Our Lady's Children's Hospital, Crumlin, Dublin,, Ireland.en_GB
dc.identifier.journalFetal and pediatric pathologyen_GB
dc.description.provinceLeinster-

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