Correlation of Brain Metastasis Genomic Alterations with Preoperative Imaging Features

• Published in: World neurosurgery 2024-01, Vol.181, p.e475-e482
• Main Authors: Uggerly, Amalie S.V., Cummins, Daniel D., Nguyen, Minh P., Saggi, Satvir, Aghi, Manish K., Morshed, Ramin A.
• Format: Article
• Language: English
• Subjects: Brain metastases; Cystic features; Edema; Genomic alterations; Imaging features; Intratumoral hemorrhage
• ISSN: 1878-8750; 1878-8769; 1878-8769
• DOI: 10.1016/j.wneu.2023.10.084

The aim of this study was to examine associations between genomic alterations in brain metastases and common preoperative imaging findings including overt intratumoral hemorrhage, cystic features, and edema. A single-center, retrospective study was performed including patients who underwent surgical resection of brain metastasis with available preoperative magnetic resonance imaging (MRI). Next-generation sequencing of more than 500 coding genes was performed on the resected brain metastases. Preoperative MRI was reviewed to identify the presence of intratumoral hemorrhage, cystic features, and edema in the resected brain metastasis. Genomic data were then correlated with the imaging features using univariate and multivariate nominal logistic regression analyses. We included 144 brain metastases from 141 patients in the study cohort. Half (72) of the metastases had an intratumoral hemorrhage, 26 (18%) had cystic features, and 130 (90%) had edema. Mutations in TP53 were associated with a reduced risk of intratumoral hemorrhage (odds ratio [OR] 0.2, 95% confidence interval [CI] 0.07–0.5, P < 0.001). Mutations in RB1 and CCND1 were associated with elevated risk of the metastasis having cystic features (OR 10.3, 95% CI 2.0–52.6, P = 0.005, OR 18.4, 95% CI 2.2–155.3, P = 0.008, respectively). PIK3CA mutations were associated with a reduced risk of peritumoral edema (OR 0.2, 95% CI 0.04–0.8, P = 0.03). Several genomic alterations in brain metastases are associated with MRI features including hemorrhage, cystic features, and edema. These results provide insight into tumor biology and patients at risk of developing these imaging features.