Extraosseal Ewing Sarcoma as a Rare Cause of the Blueberry Muffin Baby Syndrome: A Case Report and the Review of the Literature

Publikace: AMERICAN JOURNAL OF DERMATOPATHOLOGY 33, 733-735 Autoři: Krenova, Z., Kren, L., Blatny, J., Falk, M., Kazakov, DV., Grossmann, P., Shimada, H., Sterba, J. Rok: 2011


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.