학술논문
Optimizing the risk stratification of astrocytic tumors by applying the cIMPACT-NOW Update 3 signature: real-word single center experience
Document Type
article
Author
Carmen Molica; Alessio Gili; Carlotta Nardelli; Tiziana Pierini; Silvia Arniani; Donatella Beacci; Elena Mavridou; Martina Mandarano; Rodolfo Corinaldesi; Giulio Metro; Paolo Gorello; Paolo Giovenali; Nunzia Cenci; Corrado Castrioto; Marco Lupattelli; Fausto Roila; Cristina Mecucci; Roberta La Starza
Source
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Subject
Language
English
ISSN
2045-2322
Abstract
Abstract Our work reports implementation of a useful genetic diagnosis for the clinical managment of patients with astrocytic tumors. We investigated 313 prospectively recruited diffuse astrocytic tumours by applying the cIMPACT-NOW Update 3 signature. The cIMPACT-NOW Update 3 (cIMPACT-NOW 3) markers, i.e., alterations of TERT promoter, EGFR, and/or chromosome 7 and 10, characterized 96.4% of IDH wt cases. Interestingly, it was also found in 48,5% of IDH mut cases. According to the genomic profile, four genetic subgroups could be distinguished: (1) ID wt/cIMPACT-NOW 3 (n = 270); (2) IDH wt/cIMPACT-NOW 3 negative (= 10); (3) IDH mut/cIMPACT-NOW 3 (n = 16); and 4) IDH mut/cIMPACT-NOW 3 negative (n = 17). Multivariate analysis confirmed that IDH1/2 mutations confer a favorable prognosis (IDH wt, HR 2.91 95% CI 1.39–6.06), and validated the prognostic value of the cIMPACT-NOW 3 signature (cIMPACT-NOW 3, HR 2.15 95% CI 1.15–4.03). To accurately identify relevant prognostic categories, overcoming the limitations of histopathology and immunohistochemistry, molecular-cytogenetic analyses must be fully integrated into the diagnostic work-up of astrocytic tumors.