Chordoma Occurs in Young Children With Tuberous Sclerosis

Journal of Neuropathology and Experimental Neurology
Nathan A DahlJean M Mulcahy Levy

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.

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Aug 30, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Susana Boronat, Ignasi Barber
Aug 2, 2020·Scientific Reports·Edward AndersonSean Ekins
Dec 11, 2020·Human Genome Variation·Saba AhmadAkira Yoshii

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