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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
-
Review
MeSH terms
-
Calmodulin-Binding Proteins / genetics
-
Female
-
Humans
-
Immunohistochemistry
-
In Situ Hybridization, Fluorescence
-
Infant, Newborn
-
RNA-Binding Protein EWS
-
RNA-Binding Proteins / genetics
-
Retroperitoneal Neoplasms / congenital*
-
Retroperitoneal Neoplasms / genetics
-
Retroperitoneal Neoplasms / pathology*
-
Sarcoma, Ewing / congenital*
-
Sarcoma, Ewing / genetics
-
Sarcoma, Ewing / pathology*
-
Skin Diseases / etiology*
-
Skin Diseases / pathology
-
Syndrome
Substances
-
Calmodulin-Binding Proteins
-
EWSR1 protein, human
-
RNA-Binding Protein EWS
-
RNA-Binding Proteins