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using high-dose steroids and cis-retinoic acid, patient's clinical status continued to deteriorate and life support was withdrawn at the 26 day of life.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.