| Literature DB >> 28498973 |
Nathan A Dahl1, Timothy Luebbert1, Michele Loi1, Ilana Neuberger1, Michael H Handler1, Bette Kay Kleinschmidt-DeMasters1, Jean M Mulcahy Levy1.
Abstract
Chordomas are rare bony neoplasms usually unassociated with a familial tumor predisposition syndrome. The peak incidence of this midline axial skeletal tumor is in adulthood but when very young children are affected, consideration should be given to occurrence within the tuberous sclerosis (TS) complex, especially when presenting in neonates <3 months of age. To call attention to this association, we present a brachyury-immunopositive chordoma occurring in the skull base of a 2-month-old male infant who was later realized to have metastases to the subcutaneous tissues and lungs, as well as rhabdomyoma of the heart and renal cysts/angiomyolipomas, that is, characteristic features of the TS complex. We review the limited literature on this topic.Entities:
Keywords: Angiomyolipoma; Brachyury; Chordoma; Neonatal; Pediatric neoplasm; Rhabdomyoma; Tuberous sclerosis
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Year: 2017 PMID: 28498973 PMCID: PMC6075544 DOI: 10.1093/jnen/nlx032
Source DB: PubMed Journal: J Neuropathol Exp Neurol ISSN: 0022-3069 Impact factor: 3.685