PTEN hamartoma tumor syndrome/Cowden syndrome (CS) is a rare autosomal dominant syndrome containing a germline PTEN mutation that leads to the development of multisystem hamartomas and oncogenesis. Benign tumors such as Lhermitte–Duclos disease and malignant tumors involving the breast, thyroid, kidneys, and uterus are seen in CS. Radiologists have an integral role in the comanagement of CS patients. We present the associated imaging findings and imaging screening recommendations. Knowledge of the types of cancers commonly seen in CS and their imaging findings can aid in early tumor recognition during cancer screening to help ensure near-normal life spans in CS patients.

Mastocytosis is a rare disorder due to the abnormal proliferation of clonal mast cells. Mast cells exist in most tissues, mature in situ from hematopoietic stem cells and develop unique characteristics of local effector cells. Mastocytosis develops by activation mutation of the KIT surface receptor which is involved in the proliferation of a number of cell lines such as mast cells, germ cells, melanocytes, and hematopoietic cells. It manifests as two main categories: cutaneous mastocytosis and systemic mastocytosis. Imaging can play an important role in detection and characterization of the disease manifestation, not only by radiography and bone scans, but also magnetic resonance imaging and computed tomography, which can be more sensitive in the assessment of distinctive disease patterns. Radiologists should be aware of various appearances of this disease to better facilitate diagnosis and patient management. Accordingly, this review will discuss the clinical presentation, pathophysiology, and role of imaging in detection and extent estimation of the systemic involvement of the disease, in addition to demonstration of appearance on varying imaging modalities. Familiarity with the potential imaging findings associated with mastocytosis can aid in early disease diagnosis and classification and accordingly can lead directing further work up and better management.

The objective of this study was to compare the quantitative radiomics data between malignant mixed Müllerian tumors (MMMTs) and endometrial carcinoma (EC) and identify texture features associated with overall survival (OS). This study included 61 patients (36 with EC and 25 with MMMTs) and analyzed various radiomic features and gray-level co-occurrence matrix (GLCM) features. These variables and patient clinicopathologic characteristics were compared between EC and MMMTs using the Wilcoxon Rank sum and Fisher’s exact test. The area under the curve of the receiving operating characteristics (AUC ROC) was calculated for univariate analysis in predicting EC status. Logistic regression with elastic net regularization was performed for texture feature selection. This study showed that skewness (p = 0.045) and tumor volume (p = 0.007) significantly differed between EC and MMMTs. The range of cluster shade, the angular variance of cluster shade, and the range of the sum of squares variance were significant predictors of EC status (p ≤ 0.05). The regularized Cox regression analysis identified the “256 Angular Variance of Energy” texture feature as significantly associated with OS independently of the EC/MMMT grouping (p = 0.004). The volume and texture features of the tumor region may help distinguish between EC and MMMTs and predict patient outcomes.