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J Perinatol. 2008 Feb;28(2):160-2. doi: 10.1038/

Congenital high-grade sarcoma presenting as skin nodules and respiratory distress in a neonate.

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Division of Neonatology and Developmental Biology, Department of Pediatrics, Institute for Stem Cell Biology and Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.


We report, to our knowledge, the first case of a congenital, widespread, aggressive high-grade sarcoma, presented as multiple skin nodules and respiratory distress in a neonate that had a t(9;22)(q22;q11-12) cytogenetic abnormality suggestive of a more indolent extraskeletal myxoid chondrosarcoma (EMC). EMC is generally thought of as a slow-growing tumor that presents between the fourth and sixth decades of life. Our patient was a 45,XY, t(13;14) newborn who presented at birth with subcutaneous nodules involving the face, scalp, back and extremities, as well as multiple intrathoracic, intraabdominal and intracranial masses. Diagnosis was made using electron microscopy and immunohistochemical and cytogenetic studies. Despite attempts to control rapid growth of lesions using high-dose steroids and cis-retinoic acid, patient's clinical status continued to deteriorate and life support was withdrawn at the 26 day of life.

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