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Radiogenomics, a burgeoning field in biomedical research, explores the correlation between imaging features and genomic data, aiming to link macroscopic manifestations with molecular characteristics. In this review, we examine existing radiogenomics literature in clear cell renal cell carcinoma (ccRCC), the predominant renal cancer, and von Hippel–Lindau (VHL) gene mutation, the most frequent genetic mutation in ccRCC. A thorough examination of the literature was conducted through searches on the PubMed, Medline, Cochrane Library, Google Scholar, and Web of Science databases. Inclusion criteria encompassed articles published in English between 2014 and 2022, resulting in 10 articles meeting the criteria out of 39 initially retrieved articles. Most of these studies applied computed tomography (CT) images obtained from open source and institutional databases. This literature review investigates the role of radiogenomics, with and without texture analysis, in predicting VHL gene mutation in ccRCC patients. Radiogenomics leverages imaging modalities such as CT and magnetic resonance imaging (MRI), to analyze macroscopic features and establish connections with molecular elements, providing insights into tumor heterogeneity and biological behavior. The investigations explored diverse mutations, with a specific focus on VHL mutation, and applied CT imaging features for radiogenomic analysis. Moreover, radiomics and machine learning techniques were employed to predict VHL gene mutations based on CT features, demonstrating promising results. Additional studies delved into the relationship between VHL mutation and body composition, revealing significant associations with adipose tissue distribution. The review concludes by highlighting the potential role of radiogenomics in guiding targeted and selective therapies.

Isolated post-traumatic rupture of renal pelvis (IPTRRP) is an extremely rare condition and only a few cases following blunt abdominal trauma have been reported in the literature.To our knowledge, no cases of IPTRRP following blunt chest trauma have been reported.We present the case of an 84-year-old woman who was admitted to our Emergency Department due to persistent left flank pain that started after she had fallen to the ground 4 days before, with blunt trauma on her chest.CT showed a rupture of the left renal pelvis with contrast extravasation, associated with multiple rib fractures. No renal and other parenchymal injuries were detected.The patient was managed conservatively with the implantation of a ureteral stent and discharged in good clinical conditions.Our case shows the first description that IPTRRP might be an uncommon but possible complication of blunt chest trauma and must be included in the differential diagnosis.

This study aims to explore the relationship between radiological imaging and genomic characteristics in clear cell renal cell carcinoma (ccRCC), focusing on the expression of adipose differentiation-related protein (ADFP) detected through computed tomography (CT). The goal is to establish a radiogenomic lipid profile and understand its association with tumor characteristics. Data from The Cancer Genome Atlas (TCGA) and the Cancer Imaging Archive (TCIA) were utilized to correlate imaging features with adipose differentiation-related protein (ADFP) expression in ccRCC. CT scans assessed various tumor features, including size, composition, margin, necrosis, and growth pattern, alongside measurements of tumoral Hounsfield units (HU) and abdominal adipose tissue compartments. Statistical analyses compared demographics, clinical–pathological features, adipose tissue quantification, and tumoral HU between groups. Among 197 patients, 22.8% exhibited ADFP expression significantly associated with hydronephrosis. Low-grade ccRCC patients expressing ADFP had higher quantities of visceral and subcutaneous adipose tissue and lower tumoral HU values compared to their high-grade counterparts. Similar trends were observed in low-grade ccRCC patients without ADFP expression. ADFP expression in ccRCC correlates with specific imaging features such as hydronephrosis and altered adipose tissue distribution. Low-grade ccRCC patients with ADFP expression display a distinct lipid metabolic profile, emphasizing the relationship between radiological features, genomic expression, and tumor metabolism. These findings suggest potential for personalized diagnostic and therapeutic strategies targeting tumor lipid metabolism.

Quantitative abdominal adipose tissue analysis is important for obtaining information about prognosis and clinical outcomes on a wide array of diseases. In recent years, the effects of abdominal adipose tissue compartments in patients with lymphoma and the changes in their distribution after therapies have been studied. This information could facilitate the improvement of therapies in patients with lymphoma, to prevent or treat both visceral obesity and sarcopenia. Opportunistic analysis of body composition on computed tomography (CT) images might contribute to the improvement of patient management and clinical outcomes together with implementation of targeted patient-tailored therapies. The purpose of this literature review is to describe the role of CT to evaluate abdominal adipose tissue quantity and distribution in patients with lymphoma.

Abstract Background The case of disseminated cancer cell spreading throughout the brain is called “miliary metastases” or “carcinomatous encephalitis”, a very rare and critical condition (primarily associated with lung and breast cancer) in which there are multiple plaque with a perivascular distribution, made of punctate lesions spread in all the brain. To our knowledge this represents the fourth case of melanotic miliary brain metastases described in the literature, also associated with melanin content of the lesions that is already evident on unenhanced T1-weighted images. Case presentation A 75-year-old patient with history of metastatic cutaneous melanoma (BRAF V600E mutate, PD-L1 negative) in treatment with dabrafenib and trametinib after 9 years from the diagnosis developed severe cognitive-motor slowing. Contrast-enhanced brain MRI showed miliary enhancing intra-axial brain lesions involving supra- and sub-tentorial regions and also the perivascular spaces, characterized by a bright appearance on unenhanced T1-weighted images without signal hypointensity in T2*-weighted images, as for melanotic pattern. Thus, the radiological diagnosis of “carcinomatous encephalitis” was made. Neurological examination showed an alert and cooperative subject with increased reaction time in verbal and motor responses. No ocular motility disturbances were found, and there were no motor or sensory deficits in the four limbs. The finger-to-nose test was normal, and no coordination deficit was found bilaterally. Blood tests and body temperature demonstrated no signs of ongoing infection. Electroencephalography showed slow and punctate abnormalities in bilateral fronto-temporal regions, with left prevalence. Corticosteroid therapy was started during hospitalization, improving the clinical picture. The patient was then discharged after 4 days in good clinical conditions with the indication to start second-line treatment with ipilimumab and nivolumab and to perform a whole-brain irradiation. Conclusions Brain MRI plays a crucial role for the non-invasive diagnosis of carcinomatous encephalitis and for the differential diagnosis with other pathologies. Awareness of the existence of this disorder even in patients with melanoma is necessary to avoid diagnostic delays. Miliary brain metastases should be suspected in all melanoma patients with new neurological findings and contrast-enhanced MRI should be performed to assess the real burden of the disease.

Immune-checkpoint inhibitors (ICIs) are immunomodulatory monoclonal antibodies, which increase antitumor immunity of the host and facilitate T-cell-mediated actions against tumors. These medications have been used in recent years as a weapon against advanced stage malignancies, such as melanoma, renal cell carcinoma, lymphoma, small or non-small cell lung cancer, and colorectal cancer. Unfortunately, they are not free from possible adverse effects (immune-related adverse events—irAEs) that mainly affect skin, gastrointestinal, hepatic, and endocrine systems. Early diagnosis of irAEs is essential to correctly and rapidly manage patients, with ICIs suspension and therapies administration. Deep knowledge of the imaging and clinical patterns of irAEs is the key to promptly rule out other diagnoses. Here, we performed a review of the radiological signs and differential diagnosis, based on the organ involved. The aim of this review is to provide guidance to recognize the most significant radiological findings of the main irAEs, based on incidence, severity, and the role of imaging.

Deep vein arterialization (DVA) is a therapeutic option in “no option” for revascularization chronic limb-threatening ischemia patients, creating an arteriovenous bypass between a proximal artery and a distal deep venous target at the ankle. Imaging plays a crucial role in peripheral arterial disease (PAD) patient management. We present the case of a 71-year-old PAD patient (Rutherford class 5) with focal gangrene of the first and second toes of the right foot, who was admitted to the vascular surgery department to undergo revascularization surgery by femoro-tibial artery bypass. During surgery a DVA was performed because of an unsatisfactory distal artery target. The post-operative computed tomography angiography showed the saphenous graft patency and opacification of distal foot veins. Subsequent angiography documented the presence of a large venous collateral, responsible for extensive early wash-out to leg venous vessels, which was then embolized. After two months, the patient underwent amputation of the right first and second necrotic toes at the level of the metatarsophalangeal joints. The post-operative course was excellent, with disappearance of pain at rest and good trophism of the surgical wound.

The role of androgens in body composition is well known. Androgen deprivation therapy (ADT) has shown beneficial effects in the treatment of advanced prostate cancer (PCa). Given that androgens are important for the homeostasis of different organs, the effects of ADT can affect body composition and therefore adipose tissue. Computed tomography (CT) and magnetic resonance imaging (MRI) are non-invasive methods that allow for quantification of the different fat compartments. In this review we describe the effects of ADT on abdominal adipose tissue in PCa patients.

Brain spaces around (perivascular spaces) and alongside (paravascular or Virchow–Robin spaces) vessels have gained significant attention in recent years due to the advancements of in vivo imaging tools and to their crucial role in maintaining brain health, contributing to the anatomic foundation of the glymphatic system. In fact, it is widely accepted that peri- and para-vascular spaces function as waste clearance pathways for the brain for materials such as ß-amyloid by allowing exchange between cerebrospinal fluid and interstitial fluid. Visible brain spaces on magnetic resonance imaging are often a normal finding, but they have also been associated with a wide range of neurological and systemic conditions, suggesting their potential as early indicators of intracranial pressure and neurofluid imbalance. Nonetheless, several aspects of these spaces are still controversial. This article offers an overview of the current knowledge and magnetic resonance imaging characteristics of peri- and para-vascular spaces, which can help in daily clinical practice image description and interpretation. This paper is organized into different sections, including the microscopic anatomy of peri- and para-vascular spaces, their associations with pathological and physiological events, and their differential diagnosis.

Background. To evaluate the radiological features of B3 lesions in patients with genetic mutations to establish an anatomo-radiological correlation. Methods. A total of 227 women with a histological diagnosis of B3 breast lesion were enrolled. Breast images of 21 patients with genetic test positivity for mutations in genes associated with breast cancer were analyzed. Results. BRCA1 was the most frequent mutation (n = 12) followed by ATM (n = 6) and BRCA2 (n = 3). The histological findings showed nine atypical ductal hyperplasia (ADH), six lobular neoplasia (LN) including lobular carcinoma in situ (LCIS), three flat epithelial atypia (FEA) and three radial scar (RS) lesions. The results showed a significance difference between B3 lesion distribution in the three subgroups of mutations. LN and FEA showed the highest malignancy correlation. Patient age and risk anamnesis were factors that significantly influenced the malignancy rate. By mammography, 90.5% of lesions appeared as microcalcifications. By ultrasound, 13 lesions were observed as hypoechoic lesions. On breast MRI, 16 lesions were detected as a mass enhancement in all groups. DWI and kinetic curves significantly correlated with the risk of cancer. Conclusions. The radiological features of B3 lesions may help in the diagnosis of breast cancer malignancy. The high malignancy rate of cancer in our sample suggests they should always be surgically excised.

Advances in the knowledge of renal cell carcinoma (RCC)’s oncogenesis have led to the development of new therapeutic approaches, such as immune checkpoint inhibitors (ICIs), which have improved the clinical outcomes of metastatic RCC (mRCC) patients. Our literature search led to a series of studies that were divided into four subcategories: RECIST criteria, radiomics and artificial intelligence, atypical response patterns, and body composition. These studies provide novel and promising data aimed at improving patient management and clinical outcomes, further strengthening the concept of precision medicine. Radiomics and artificial intelligence allow us to obtain—in a non-invasive fashion—a multitude of data that cannot be detected with the naked eye, offering potential advantages that might help to predict the response to treatments and possibly improve patients’ outcomes through a personalized therapeutic approach. The purpose of this literature review is to describe the available evidence on the role of computed tomography (CT) in evaluating and predicting ICIs’ effects on mRCC patients by applying radiomics and artificial intelligence.

Background: The Cancer Genome Atlas (TCGA) Research Network revealed numerous clear cell renal cell carcinoma (ccRCC) gene mutations among which titin (TTN). The link between excessive amounts of visceral adipose tissue (VAT) and ccRCC pathogenesis is known. A relationship between VHL and TTN gene mutations and a CT-derived estimation of body composition in ccRCC patients has been evaluated. Methods: We retrospectively assessed patients from the TCGA-kidney renal clear cell carcinoma (KIRC) database for evaluation of clinicopathological and body composition analysis of ccRCC VHL and TTN gene mutations. Results: Gene expression levels and survival were assessed on a large cohort of 483 patients and 533 tumor samples. A statistically significant difference of VHL expression reduction in primary tumor (p < 0.0001) and a TTN expression increase in primary tumor (p < 0.0001) was shown. TTN high expression levels was associated with statistically significant lower KIRC patient survival at eight years (p < 0.05). For body composition analysis, we included 54 male patients divided into two groups: ccRCC-VHL (n = 41) and ccRCC-TTN (n = 13) groups. Statistically significant differences between the two groups were obtained for total adipose tissue (TAT) (p < 0.01), VAT (p < 0.05), subcutaneous adipose tissue (SAT) (p < 0.05) and total abdominal muscle (TAM) (p < 0.05) areas. Conclusion: This study demonstrates a link between ccRCC TTN gene mutation and shorter patient survival. The reduction of the analyzed tissues might be a risk of cancer cachexia in ccRCC patients with TTN gene mutation.