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Familial chordoma with probable autosomal dominant inheritance

✍ Scribed by Stepanek, Jan; Cataldo, Steven A.; Ebersold, Michael J.; Lindor, Noralane M.; Jenkins, Robert B.; Unni, Krishnan; Weinshenker, Brian G.; Rubenstein, Ronald L.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 10 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980123)75:3<335::aid-ajmg23>3.0.co;2-p

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✦ Synopsis

To the Editor:

Chordomas are rare, clinically malignant tumors derived from notochordal remnants which occur along the length of the spinal axis predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and, rarely, distant metastatic spread. We describe a family of Scottish/Irish ancestry with four histologically confirmed cases of chordoma in two generations, consistent with autosomal-dominant inheritance (Fig. 1). One of us (K.U.) reviewed the histology in three cases and confirmed that the tumors were chordomas.

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