Del diagnóstico histopatológico al diagnóstico molecular en los gliomas
Data: Ostirala, Otsailaren 9an
Laburpena
IDH mutations are a very early event propelling neural precursor cells along the pathway of infiltrating gliomas (diffuse astrocytic and oligodendroglial tumors). Additional hits such as TP53 mutations or 1p/19q codeletions will determine whether the neoplasm becomes either astrocytoma or oligodendroglioma, respectively. IDH mutations are at the root of all infiltrating glioma types, with the exception of primary glioblastoma (GB). Gliomas with mut-IDH tend to occur in a younger population and carry a better prognosis than neoplasms with wt-IDH. Interestingly, IDH status is even prognostically superior to histologic grade in some contexts. Also important in gliomagenesis are the ATRX, TERT, CIC, and FUBP1 genes, whose alterations follow IDH changes and combine with TP53 mutations or 1p/19q codeletions to give rise to either astrocytoma (IDH, TP53 and ATRX changes) or oligodendroglioma (IDH, TERT, CIC, FUBP1 and 1p/19q codeletion changes). It should be noticed, however, that TERT promoter mutations are much more prevalent in primary GB, where they are associated with EGFR amplification and unaccompanied by IDH changes. This abundance of molecular riches should not delude us into thinking that histology is outmoded. On the contrary, proper understanding of molecular events is totally dependent on the guide of morphology.
Hizlaria
Aurelio Ariza is chairman of the Department of Pathology at Hospital Universitari Germans Trias i Pujol (HUGTP), Badalona, Barcelona, and professor of Pathology at the Autonomous University of Barcelona (UAB). He pursued his anatomic pathology residency training at the Hospital of St Raphael (Yale University) during the period 1980-1984 and then completed his training with a fellowship in neuropathology and a fellowship in surgical pathology at the Yale-New Haven Hospital (Yale University) during the period 1984-1988. Among other merits, he has been research coordinator of the HUGTP (1997-2000), research vice dean of the UAB Medical School, and president of the Spanish Society of Pathology (2007-2011). Currently, he is president of the National Commission for Anatomic Pathology and secretary of the European Society of Pathology. Additionally, he has received the Professional Excellence Award of the Barcelona Medical College (2011) and has been appointed member of the Royal Academy of Medicine of Catalonia (2012). He has been the principal investigator of several neuropathology projects and has authored over one hundred peer-reviewed articles. He is co-author of several patents dealing with neurodegenerative diseases.