Cellular neurothekeoma is driven by copy number deletions, providing potential diagnostic and therapeutic avenues

To-date our knowledge of the genomic landscape of cellular neurothekeoma (cNTK) remains incomplete. Thus, in order to comprehensively elucidate the mutational profile of this rare tumour type and identify driver events, we sequenced DNA (WES) and RNA (pulldown transcriptome) from an international, multi-institutional cohort of cNTK matched tumour-normal pairs (n = 20). We identified copy number (CN) alterations as a driver event of this tumour type, with the most recurrent CN alteration being a deletion on 9p21.3 that encompassed MTAP and the c-terminal exons of CDKN2A.