title: Extraosseal Ewing sarcoma as a rare cause of the blueberry muffin baby syndrome: a case report and the review of the literature.
abstract: The blueberry muffin baby syndrome can be caused by a variety of entities, both neoplastic and nonneoplastic. We present a rare cause of this syndrome: congenital extraosseal Ewing sarcoma. The patient was a blueberry muffin baby with a retroperitoneal tumor, whose cells were negative for neuronal markers and CD-99 immunohistochemically but were positive for a breakpoint in EWSR1 gene. This tumor could be one of the most primitive/undifferentiated examples in the Ewing/peripheral primitive neuroectodermal tumor family.
authors.affiliation: Department of Pediatric Oncology, University Hospital Brno, Brno, Czech Republic. zkrenova@fnbrno.cz
authors.forename: Zdenka
authors.initials: Z
authors.lastname: Krenova
authors.forename: Leos
authors.initials: L
authors.lastname: Kren
authors.forename: Jan
authors.initials: J
authors.lastname: Blatny
authors.forename: Martin
authors.initials: M
authors.lastname: Falk
authors.forename: Dmitry V
authors.initials: DV
authors.lastname: Kazakov
authors.forename: Petr
authors.initials: P
authors.lastname: Grossmann
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Shimada
authors.forename: Jaroslav
authors.initials: J
authors.lastname: Sterba
mesh_terms: D002148:Calmodulin-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics; D012186:Retroperitoneal Neoplasms / Q000151:congenital* / Q000235:genetics / Q000473:pathology*; D012512:Sarcoma, Ewing / Q000151:congenital* / Q000235:genetics / Q000473:pathology*; D012871:Skin Diseases / Q000209:etiology* / Q000473:pathology; D013577:Syndrome
chemical_list: D002148:Calmodulin-Binding Proteins; C500986:EWSR1 protein, human; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins