RASopathies for Radiologists.

RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway. Abnormal activation of the Ras/MAPK pathway plays a major role in development of RASopathies. The individual disorders of RASopathies are rare, but collectively they are the most common genetic condition (one in 1000 newborns). Activation or dysregulation of the common Ras/MAPK pathway gives rise to overlapping clinical features of RASopathies, involving the cardiovascular, lymphatic, musculoskeletal, cutaneous, and central nervous systems. At the same time, there is much phenotypic variability in this group of disorders. Benign and malignant tumors are associated with certain disorders. Recently, many institutions have established multidisciplinary RASopathy clinics to address unique therapeutic challenges for patients with RASopathies. Medications developed for Ras/MAPK pathway-related cancer treatment may also control the clinical symptoms due to an abnormal Ras/MAPK pathway in RASopathies. Therefore, radiologists need to be aware of the concept of RASopathies to participate in multidisciplinary care. As with the clinical manifestations, imaging features of RASopathies are overlapping and at the same time diverse. As an introduction to the concept of RASopathies, the authors present major representative RASopathies, with emphasis on their imaging similarities and differences. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material.

Machine Learning-Based Multiparametric Magnetic Resonance Imaging Radiomics for Prediction of H3K27M Mutation in Midline Gliomas.

OBJECTIVE: H3K27M mutation in gliomas has prognostic implications. Previous magnetic resonance imaging (MRI) studies have reported variable rates of tumoral enhancement, necrotic changes, and peritumoral edema in H3K27M-mutant gliomas, with no distinguishing imaging features compared with wild-type gliomas. We aimed to construct an MRI machine learning (ML)-based radiomic model to predict H3K27M mutation in midline gliomas. METHODS: A total of 109 patients from 3 academic centers were included in this study. Fifty patients had H3K27M mutation and 59 were wild-type. Conventional MRI sequences (T1-weighted, T2-weighted, T2-fluid-attenuated inversion recovery, postcontrast T1-weighted, and apparent diffusion coefficient maps) were used for feature extraction. A total of 651 radiomic features per each sequence were extracted. Patients were randomly selected with a 7:3 ratio to create training (n = 76) and test (n = 33) data sets. An extreme gradient boosting algorithm (XGBoost) was used in ML-based model development. Performance of the model was assessed by area under the receiver operating characteristic curve. RESULTS: Pediatric patients accounted for a larger proportion of the study cohort (60 pediatric [55%] vs. 49 adult [45%] patients). XGBoost with additional feature selection had an area under the receiver operating characteristic curve of 0.791 and 0.737 in the training and test data sets, respectively. The model achieved accuracy, precision (positive predictive value), recall (sensitivity), and F1 (harmonic mean of precision and recall) measures of 72.7%, 76.5%, 72.2%, and 74.3%, respectively, in the test set. CONCLUSIONS: Our multi-institutional study suggests that ML-based radiomic analysis of multiparametric MRI can be a promising noninvasive technique to predict H3K27M mutation status in midline gliomas.

Imaging mimics of chronic recurrent multifocal osteomyelitis: avoiding pitfalls in a diagnosis of exclusion.

Chronic recurrent multifocal osteomyelitis (CRMO) is a pediatric autoinflammatory disorder that is characterized by multiple sterile inflammatory bone lesions with a relapsing and remitting course. CRMO belongs to the autoinflammatory family of rheumatologic disorders based on absence of significant titers of autoantibodies and autoreactive T-lymphocytes. In absence of pathognomonic clinical, radiographic or pathological features, diagnosis can be challenging. CRMO shares imaging features with other diseases. It is important for radiologists to be able to differentiate other diseases from CRMO because prognosis varies from completely benign to frankly malignant. In this article we first present the clinical and imaging features of CRMO to help readers gain an understanding of the disease process, then discuss our imaging approach to CRMO and review other disease processes that sometimes share similar imaging findings to CRMO and review differentiating features to help avoid misdiagnoses.