A "masked" pleomorphic xanthoastrocytoma
PATHOLOGY RESEARCH AND PRACTICE(2023)
Abstract
The latest WHO Classification of tumours of the Central Nervous System (CNS) emphasizes the necessity of an integrated diagnostic approach during the workup of a CNS neoplasm. In addition to the mutational status, assessment of methylation profile of a tumour emerged as a helpful (often necessary) tool to make a correct and unequivocal diagnosis. Here we present a case of a Pleomorphic Xanthoastrocytoma with clinical, radiological and histopathological findings remarkably overlapping with a recently described paediatric-type glioma namly Polymorphic Low-grade Neuroepithelial Tumour of the Young (PLNTY). The differential diagnosis here discussed represents a methodological paradigm in the modern neuropathology. In fact, the presentation of this case is a demonstration that in day-to-day practice, clinical, radiological, and histopathological data can all be misleading, and the correct diagnosis can only be reached by integration with molecular analysis. In the modern neuro-oncology, it is by far mandatory for all the specialists dealing with cerebral tumours to "contaminate" their own cultural heritage with other ones, to optimally manage a patient with CNS tumour.
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Key words
DNA methylation profile,Integrated diagnosis,Neuropathology,PLNTY,Pleomorphic xanthoastrocytoma
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