Chordoma of the Head and Neck: A Review

Abstract

Chordoma is a rare malignant bone tumor that can arise anywhere along the central neural axis and many involve head and neck sites, most commonly the skull base. The relative rarity of these tumors, combined with the complex anatomy of the head and neck, pose diagnostic challenges to pathologists. This article describes the pertinent clinical, pathologic, and molecular features of chordomas and describes how these features can be used to aid in formulating a differential diagnosis. Emphasis is placed on key diagnostic pitfalls and the importance of incorporating immunohistochemical information into the diagnosis.

Active receptor tyrosine kinases, but not Brachyury, are sufficient to trigger chordoma in zebrafish

“…Besides TBXT and RTKs, several other signaling factors have been found to be activated or misexpressed in chordoma (Frezza et al, 2019; Wasserman et al, 2018). Phosphorylation of mTOR, a key downstream mediator of RTK/Ras signaling in the mTORC1 and mTORC2 complexes that control ribosome biogenesis and protein synthesis (Manning and Toker, 2017), has been repeatedly found in chordoma (Presneau et al, 2009).…”

Chondroid chordoma of the parapharyngeal space: A case report and review of literature

“…The majority of head and neck chordomas arise in the skull base with a small minority arising along the cervical spine. Reports of extra-axial locations in the head and neck have found them arising in the nasopharynx, paranasal sinuses, lateral nasal wall, oropharynx, and the soft tissue of the neck [10]. Cranial chondroid chordoma (CC), a subtype of chordoma, was first described by Falconer et al [11] in 1968 as a biphasic neoplasm consisting of cartilaginous and chordoid elements in variable proportions.…”

“…Brachyury, a nuclear protein associated with notochord differentiation, is the most specific marker of chordoma. Occasionally though, chondroid chordoma may demonstrate only focal cytokeratin expression [10].…”

Recent advances in understanding and managing chordomas: an update

“…Because of chordomas’ slow growth, their signs and symptoms are most often the result of mass effect or local invasion, as the tumor can insidiously grow undetected for extended periods of time. Intracranial chordomas are often discovered during a workup for headache, neck pain, or neurological deficits such as double vision 6 , 7 . On the other hand, spinal lesions are more often associated with local pain or bowel and urinary dysfunction because of slow compression by space-occupying masses but can also result in neurological impingement with myelopathy or radiculopathy.…”

“…Microscopically, these masses comprise distinct chords of cells contained in a myxoid matrix. The pathognomonic cellular features are physaliferous cells (or “bubble” cells) which contain intracytoplasmic vacuoles 6 .…”