Decrease in FOXJ1 expression and its ciliogenesis program in aggressive ependymoma and choroid plexus tumours

• Published in: The Journal of pathology 2016-03, Vol.238 (4), p.584-597
• Main Authors: Abedalthagafi, Malak S., Wu, Michael P., Merrill, Parker H., Du, Ziming, Woo, Terri, Sheu, Shu-Hsien, Hurwitz, Shelley, Ligon, Keith L., Santagata, Sandro
• Format: Article
• Language: English
• ISSN: 0022-3417; 1096-9896
• DOI: 10.1002/path.4682

Well-differentiated human cancers share transcriptional programs with the normal tissue counterparts from which they arise. These programs broadly influence cell behavior and function and are integral modulators of malignancy. Here, we show that the master regulator of motile ciliogenesis, FOXJ1, is highly expressed in cells along the ventricular surface of the human brain. Strong expression is present in cells of the ependyma and the choroid plexus as well as in a subset of cells residing in the subventricular zone. Expression of FOXJ1 and its transcriptional program is maintained in many well-differentiated human tumours that arise along the ventricle, including low-grade ependymal tumours and choroid plexus papilloma. Anaplastic ependymoma as well as choroid plexus carcinoma show decreased FOXJ1 expression and its associated ciliogenesis program genes. In ependymoma and choroid plexus tumours, reduced expression of FOXJ1 and its ciliogenesis program are markers of poor outcome and are therefore useful biomarkers for assessing these tumours. Transitions in ciliogenesis define distinct differentiation states in ependymal and choroid plexus tumours with important implications for patient care.