Scientific Reports (Nov 2023)

Optimizing the risk stratification of astrocytic tumors by applying the cIMPACT-NOW Update 3 signature: real-word single center experience

  • 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

DOI
https://doi.org/10.1038/s41598-023-46701-z
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 8

Abstract

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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.