title: Ectomesenchymoma with t(1;12)(p32;p13) evolving from embryonal rhabdomyosarcoma shows no rearrangement of ETV6.
abstract: Ectomesenchymoma is a rare mesenchymal malignancy occurring mainly in the pediatric population. The hallmark diagnostic features are a combination of sarcoma, usually rhabdomyosarcoma (RMS) with admixed ganglion cells. The lesion arises either in soft tissues or the cranial cavity, and outcomes vary considerably. Current knowledge about the genetics and biology of ectomesenchymoma is extremely limited with only 4 published karyotypes, showing overlaps only in trisomies 2, 8, and 11. Here, we describe a case with genetic findings that, in conjunction with preexisting observations, offer some additional insights into the genetic aberrations of ectomesenchymoma.
authors.affiliation: National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
authors.forename: Sinead
authors.initials: S
authors.lastname: Howley
authors.forename: Deirdre
authors.initials: D
authors.lastname: Stack
authors.forename: Thomas
authors.initials: T
authors.lastname: Morris
authors.forename: Michael
authors.initials: M
authors.lastname: McDermott
authors.forename: Michael
authors.initials: M
authors.lastname: Capra
authors.forename: David
authors.initials: D
authors.lastname: Betts
authors.forename: Maureen J
authors.initials: MJ
authors.lastname: O'Sullivan
mesh_terms: D002878:Chromosomes, Human, Pair 1; D002881:Chromosomes, Human, Pair 12; D017809:Fatal Outcome; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007223:Infant; D008637:Mesenchymoma / Q000235:genetics / Q000473:pathology*; D016609:Neoplasms, Second Primary / Q000235:genetics / Q000473:pathology*; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics / Q000473:pathology*; D012983:Soft Tissue Neoplasms / Q000235:genetics / Q000473:pathology*; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein