Search Results (26)

Background/Objectives: To evaluate the diagnostic performance of non-enhanced MRA in detecting intratumoral aneurysms in renal AML, using digital subtraction angiography (DSA) as the reference standard. Methods: Fourteen female patients (mean age, 39 years; range, 21–57 years) who received prophylactic transcatheter arterial embolization (TAE) for non-hemorrhagic renal AML(s) between July 2010 and September 2018 were included in this study. All received a non-enhanced MRA scan prior to TAE. Non-enhanced MRA images were obtained using the flow-in technique with three-dimensional balanced steady-state free precession (SSFP). The MRA and DSA images were jointly evaluated by three radiologists. In this study, significant aneurysms were defined as aneurysms with a diameter of 3 mm or more within the renal AML. The MRA images assessed the number and location of significant aneurysms. The DSA images were used as the reference standard. Results: DSA identified 30 significant aneurysms in eight kidneys; MRA identified 26, giving a sensitivity of 87%. There were no false positives, resulting in a specificity of 100%. Conclusions: Flow-balanced SSFP MRA is effective in detecting significant aneurysms in renal AML and could be a viable alternative for patient follow-up. Full article

Background: Oncocytoma and angiomyolipoma (AML) are benign renal tumors that may mimic malignant lesions on imaging. With the increasing use of partial nephrectomy (PN) for renal masses, accurate preoperative characterization of these lesions is essential. This study highlights the role of partial nephrectomy as a valuable diagnostic tool in situations where imaging is inconclusive or raises concern for malignancy without definitive confirmation. In the absence of a reliable preoperative diagnosis, partial nephrectomy provides direct histologic verification with minimal perioperative morbidity. Moreover, it offers curative potential when malignancy is present. By achieving both diagnostic certainty and renal preservation, this approach is well-suited for clinical scenarios in which imaging ambiguity might otherwise result in overtreatment through radical surgery or undertreatment Material and methods: in this retrospective study, we reviewed our 5-year experience (2019–2024), 188 partial nephrectomies—including bilateral procedures and operations on solitary kidneys—using robotic and open approaches. All of these 30 tumors were solid renal masses with indeterminate imaging features or suspicious characteristics suggestive of malignancy, further underscoring the limitations of current preoperative diagnostic modalities. Results: Histopathological evaluation confirmed benign renal tumors in 30 cases, with oncocytoma diagnosed in 18 cases (16 robotic, 2 open) and AML in 12 cases (9 robotic, 3 open). Conclusions: Even when imaging raises suspicion of malignancy or remains inconclusive, many small renal masses are ultimately confirmed as benign upon histopathological examination. This study underscores the diagnostic uncertainty associated with small renal tumors and highlights the value of partial nephrectomy as a decisive diagnostic intervention. In situations where non-invasive modalities fail to provide definitive answers, partial nephrectomy offers tissue confirmation with minimal morbidity. Furthermore, when malignancy is present, this approach ensures appropriate oncologic management while preserving renal function. Our findings support the integration of this strategy into routine clinical practice, particularly when diagnostic clarity is essential for guiding safe and effective treatment. Full article

Background: Differentiating histologic subtypes of fat-poor small renal masses using conventional imaging remains difficult due to their overlapping radiologic characteristics. We aimed to develop a machine learning-based diagnostic model using CT-derived radiomic features to classify the five most common renal tumor subtypes: clear cell RCC (ccRCC), papillary RCC (pRCC), chromophobe RCC (chRCC), angiomyolipoma (AML), and oncocytoma. Methods: A total of 499 patients with pathologically confirmed renal tumors who underwent preoperative contrast-enhanced CT and nephrectomy were retrospectively analyzed. Results: We extracted and analyzed radiomic features from 1548 multi-phase CT scans from 499 patients, focusing on fat-poor tumors. Five machine learning classifiers including Linear SVM, Rbf SVM, Random Forest, and XGBoost were involved. Among the models, XGBoost showed the best classification performance, with an average AU-PRC: mean = 0.757, standard error = 0.033 and a renal angiomyolipoma-specific AU-ROC: mean = 0.824, standard error = 0.023. These results outperformed other single-phase CT radiomic feature-based machine learning models trained with 20% of principal components. Conclusions: This study demonstrates the effectiveness of radiomics-based machine learning in classifying renal tumor subtypes and highlights the potential of AI in medical imaging. The findings, particularly the utility of single-phase CT and feature optimization, offer valuable insights for future precision medicine approaches. Such methods may support more personalized diagnosis and treatment planning in renal oncology. Full article

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to the dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the development of benign tumors across multiple organ systems and poses significant neurodevelopmental challenges. The clinical manifestations of TSC vary widely and include subependymal giant cell astrocytomas (SEGAs), renal angiomyolipomas (AMLs), facial angiofibromas (FAs), and neuropsychiatric conditions such as autism spectrum disorder (ASD). mTOR inhibitors, notably everolimus, have become central to TSC management, with documented efficacy in reducing the sizes of SEGAs and AMLs and showing promise in addressing additional TSC-related symptoms. Case Presentation: We report the case of an 11-year-old male diagnosed with TSC, presenting with hallmark features including hypopigmented macules, early-onset infantile spasms, SEGA, and AMLs. Initial interventions included adrenocorticotropic hormone (ACTH) therapy and sodium valproate for seizure management and a minimally invasive keyhole craniotomy for SEGA reduction. At age 12, oral everolimus therapy was introduced to address both SEGA recurrence risk and ASD-related social deficits. Over the course of 24 weeks, a reduction in the size and erythema of the patient’s FAs was observed, alongside improvements in social engagement, suggesting potential added benefits of systemic mTOR inhibition beyond tumor control. Results: Treatment with everolimus over a 24-month period led to significant reductions in both FA and AML size, as well as measurable improvements in ASD-associated behaviors. Therapeutic drug monitoring maintained serum levels within the effective range, minimizing adverse effects and underscoring the tolerability and feasibility of long-term everolimus administration. Conclusions: This case underscores the efficacy of oral everolimus in reducing FA size in a pediatric TSC patient, with broader therapeutic benefits that support the potential of mTOR inhibition as a multi-targeted strategy for TSC management. Further studies are needed to explore the full range of applications and long-term impact of mTOR inhibitors in TSC care. Full article

Objective: Renal cell carcinoma (RCC) is a rare but severe and aggressive pediatric malignancy. While incidence is uncommon, survival is relatively low with respect to acute lymphocytic leukemia (ALL), AML, lymphoma, ependymoma, glioblastoma, and Wilms Tumor. The pediatric renal cell carcinoma (pRCC) incidence, cumulative incidence (period prevalence), and mortality vary by health disparities’ indicators, namely sex, race, ethnicity, age at tumor diagnosis, and social determinants of health (SDHs) as well as Epigenomic Determinants of Health (EDHs). However, studies are unavailable on some pRCC risk determinants, such as area of residence and socio-economic status (SES). The current study aimed at assessing the temporal trends, cumulative incidence, household median income, urbanity, mortality, and pRCC survival differentials. Materials and Methods: A retrospective cohort design was utilized to examine the event-free survival of children (0–19) with RCC using the Surveillance Epidemiology and End Result Data, 1973–2015. While the time-dependent variable, namely survival months, was utilized, we assessed the predictors of pRCC survival, mainly sex, age at diagnosis, education, insurance status, income, and tumor grade, as prognostic factors. In examining the joint effect of area of residence and race, as an exposure function with time in survival, we utilized the Cox proportional hazard model, while the annual percent change was assessed using a generalized linear model, implying a weighted average. Results: Between 1973 and 2015, there were 174 cases of pRCC, of whom 49 experienced mortality (28.2%). The pRCC cumulative incidence tends to increase with advancing age. A significant survival differential was observed between black/AA children with RCC and their white counterparts. Compared with white children, black/AA children were almost three times as likely to die, hazard ratio (HR) = 2.90, 95% CI = 1.56–5.31, p = 0.001. A survival differential was observed in sex, with males presenting with a 21% increased likelihood of dying, HR = 1.21; 95% CI, 0.69–2.11. In the metropolitan area, the risk of dying was almost three times as likely among black/AA children compared to their white counterparts, HR = 2.78; 95% CI, 1.45–5.43, while in the urban area, the risk of dying was almost four times as likely among black/AA children compared to their white counterparts, HR = 4.18; 95% CI, 0.84–20.80. After controlling for age, sex, education, and insurance, the risk of dying increased amongst black/AA children in metropolitan areas, adjusted HR (aHR) = 3.37, 99% CI = 1.35–8.44. In the urban area, after adjustment for age, sex, and insurance, there was an increased risk of dying for black/AA children, compared with their white counterparts with pRCC, aHR = 8.87, 99% CI = 2.77–28.10. Conclusion: pRCC indicates an increased trend in males and age at diagnosis between 10 and 14, as well as a survival disadvantage among black/AA children, compared with their white counterparts. Additionally, urbanity significantly influences the racial differences in survival. These data are suggestive of the conjoined effect of environment and race in pRCC survival, indicative of further assessment of gene–environment interaction (epigenomics) in incidence, mortality, and survival in pRCC. Full article

Acute myeloid leukemia (AML) has not been identified as a cause of secondary hemolytic–uremic syndrome (HUS). This case report describes a woman who developed severe HUS at the time of AML diagnosis and responded favorably to initial treatment with eculizumab, which stabilized her condition and allowed for treatment of the AML. After one year, with stable renal function and genetic studies reported as normal, eculizumab was successfully discontinued. The prompt use of eculizumab was critical to the patient’s survival and improvement in renal function, highlighting the efficacy of early eculizumab treatment in secondary HUS. Full article

Angiomyolipoma (AML) are the most common benign solid renal mass. Differentiation from malignant tumours is essential. Imaging features in ultrasound may overlap between malignant lesions, especially between renal cell carcinoma (RCC) and AML. So far, sectional imaging has been necessary for reliable differentiation. The aim of this study is to evaluate the use of the ultrasound-guided attenuation parameter (UGAP), a recently established tool for assessing hepatic steatosis, in the differentiation of AMLs from other renal masses. Therefore, 27 patients with unknown solid renal masses were examined by ultrasound including UGAP. The attenuation was assessed qualitatively by attenuation map and quantitatively in comparison to the surrounding renal tissue. UGAP was applicable in 26/27 patients. Findings were compared with CT/MRI as the current imaging standard. A total of 18 AML and 9 other renal tumours were found. The diagnostic performance of B-Mode (hyperechogenic lesion) ultrasound was 77.8% in identifying AML. The diagnostic performance of the attenuation map showed a diagnostic performance of 92.6%, whereby UGAP measurements were successful in 76.9% of cases. Quantitatively, we found a significant difference (p < 0.034) in mean measured attenuation between AML (0.764 ± 0.162 dB/cm/MHz) vs. other renal tumours (0.658 ± 0.155 dB/cm/MHz). The best performance was found by a combined parameter of a hyperechogenic lesion with a positive attenuation map with an accuracy of 95.0%. In conclusion, UGAP may represent a possibility for differentiating solid renal lesions more accurately by ultrasound, especially classic hyperechoic AMLs from other renal lesions. Further studies are needed to increase the diagnostic reliability further. Full article

Background: Renal angiomyolipoma (AML) without local invasion is generally considered benign. However, it may extend to the renal sinus, even the renal vein, or the inferior vena cava (IVC). In patients with non-tuberous sclerosis complex, coexistence of renal cell carcinoma (RCC) and renal AML is uncommon. Case presentation: A 72-year-old woman was incidentally found to have a solitary right renal mass with an IVC thrombus extending into the right atrium during a routine health checkup. Robot-assisted laparoscopic radical nephrectomy and thrombectomy were successfully performed through adequate preoperative examination and preparation. Two tumor lesions were found and pathologically confirmed as renal AML and RCC, and the tumor thrombus was derived from the renal AML. During the one-year follow-up period, no signs of recurrence or metastatic disease were observed. Conclusions: Renal AML with a tumor thrombus in the IVC and right atrium accompanied by RCC may occur, although rarely. In clinical practice, if preoperative manifestations differ from those of common diseases, rare diseases must be considered to avoid missed diagnoses. In addition, adequate examination and multidisciplinary discussions before making a diagnosis are necessary. For a level 4 tumor thrombus with no infringement of the venous wall, adoption of robot-assisted minimally invasive surgery, without extracorporeal circulation technology, is feasible. Full article

The availability of imaging methods has enabled increased detection of kidney lesions, which are a common clinical problem. It is estimated that more than half of patients over the age of 50 have at least one undetermined mass in the kidney. The appropriate characterization and diagnosis of lesions imaged in the kidney allows for proper therapeutic management. Previously, contrast-enhanced computed tomography (CT) and contrast-enhanced magnetic resonance imaging (MRI) have been used in their extended diagnosis. However, the limitations of these techniques, such as radiation exposure, renal toxicity, and allergies to contrast agents, must be considered. Contrast-enhanced ultrasound (CEUS) is increasingly being used as an examination to resolve interpretive doubts that arise with other diagnostic methods. Indeed, it can be considered both as a problem-solving technique for diagnosing and distinguishing lesions and as a technique used for observation in preservative treatment. Evaluation of the enhancement curve over time on CEUS examination can help to differentiate malignant renal cell carcinoma (RCC) subtypes that should be resected from benign lesions, such as oncocytoma or angiomyolipoma (AML), in which surgery can be avoided. It allows for distinguishing between benign and malignant tumors, renal and pseudotumors, and solid and cystic tumors. Therefore, with recent advances in ultrasound technology, CEUS has emerged as a fast, reliable, and cost-effective imaging tool in the preoperative evaluation and diagnosis of solid renal masses. Full article

Chronic myelomonocytic leukemia (CMML) is a rare hematologic disorder that infrequently causes acute kidney injury (AKI). CMML can transform into acute myeloid leukemia (AML), which can be accompanied by a deterioration in kidney function. However, severe AKI due to extramedullary manifestations of AML is rare. Herein, we present the case of a 67-year-old male patient with CMML that transformed into AML with severe AKI necessitating hemodialysis. The cause of the AKI was the AML transformation. The patient, with stable kidney function after chemotherapy for CMML, presented with a sudden decline in kidney function. Hemodialysis was initiated because of severe AKI, and histopathologic evaluation of the kidney biopsy specimen revealed severe, diffuse mixed inflammatory cell infiltrates in the interstitium and c-kit-immunopositive myeloblast-like cells. A bone marrow biopsy was performed because of the kidney biopsy findings suggesting that leukemic infiltration led to the diagnosis of AML. The patient received chemotherapy for AML, and his kidney function recovered. As illustrated in this case, severe AKI can develop as an early extramedullary manifestation during transformation from CMML to AML. Therefore, in patients with CMML and rapidly declining renal function, transformation into AML should be considered and histopathologically confirmed by kidney biopsy. Full article

Background: Advancements in nanoscience have led to a profound paradigm shift in the therapeutic applications of medicinally important natural drugs. The goal of this research is to develop a nano-natural product for efficient cancer treatment. Methods and Results: For this purpose, mesoporous silica nanoparticles (MSNPs) were formulated, characterized, and loaded with caffeine to develop a targeted drug delivery system, i.e., caffeine-coated nanoparticles (CcNPs). In silico docking studies were conducted to examine the binding efficiency of the CcNPs with different apoptotic targets followed by in vitro and in vivo bioassays in respective animal models. Caffeine, administered both as a free drug and in nanomedicine form, along with doxorubicin, was delivered intravenously to a benzene-induced AML model. The anti-leukemic potential was assessed through hematological profiling, enzymatic biomarker analysis, and RT-PCR examination of genetic alterations in leukemia markers. Docking studies show strong inter-molecular interactions between CcNPs and apoptotic markers. In vitro analysis exhibits statistically significant antioxidant activity, whereas in vivo analysis exhibits normalization of the genetic expression of leukemia biomarkers STMN1 and S1009A, accompanied by the restoration of the hematological and morphological traits of leukemic blood cells in nanomedicine-treated rats. Likewise, a substantial improvement in hepatic and renal biomarkers is also observed. In addition to these findings, the nanomedicine successfully normalizes the elevated expression of GAPDH and mTOR induced by exposure to benzene. Further, the nanomedicine downregulates pro-survival components of the NF-kappa B pathway and upregulated P53 expression. Additionally, in the TRAIL pathway, it enhances the expression of pro-apoptotic players TRAIL and DR5 and downregulates the anti-apoptotic protein cFLIP. Conclusions: Our data suggest that MSNPs loaded with caffeine, i.e., CcNP/nanomedicine, can potentially inhibit transformed cell proliferation and induce pro-apoptotic TRAIL machinery to counter benzene-induced leukemia. These results render our nanomedicine as a potentially excellent therapeutic agent against AML. Full article

Differentiation syndrome (DS) is a frequent and potentially life-threatening clinical syndrome first recognized with the advent of targeted therapeutics for acute promyelocytic leukemia (APL). DS was subsequently observed more broadly with targeted therapeutics for acute myeloid leukemia (AML). DS is typically characterized by fever, dyspnea, hypotension, weight gain, pleural or pericardial effusions, and acute renal failure. The incidence in patients with APL ranges from 2 to 37%, with the wide variation likely attributed to different diagnostic criteria, use of prophylactic treatment, and different treatment regimens. Treatment with corticosteroids +/- cytoreductive therapy should commence as soon as DS is suspected to reduce DS-related morbidity and mortality. The targeted anti-leukemic therapy should be discontinued in patients with severe DS. Here, we discuss the pathogenesis of DS, clinical presentations, diagnostic criteria, management strategies, and implementation of prospective tracking on clinical trials. Full article

The genetic profiling of renal tumors has revealed genomic regions commonly affected by structural changes and a general genetic heterogeneity. The VHL, PTEN, and BAP1 genes are often mutated in renal tumors. The frequency and clinical relevance of these mutations in renal tumors are still being researched. In our study, we investigated VHL, PTEN, and BAP1 genes and the sequencing of 24 samples of patients with renal tumors, revealing that VHL was mutated at a noticeable frequency (25%). Six of the investigated samples showed mutations, and one genetic polymorphism (rs779805) was detected in both heterozygote and homozygote forms. PTEN gene mutation was observed in only one sample, and one specimen showed genetic polymorphism. In the case of the BAP1 gene, all of the samples were wild types. Interestingly, VHL mutation was detected in two female patients diagnosed with AML and in one with oncocytoma. We assume that VHL or PTEN mutations may contribute to the development of human renal cancer. However, the overall mutation rate was low in all specimens investigated, and the development and prognosis of the disease were not exclusively associated with these types of genetic alterations. Full article

The incidental finding of small renal masses in CT and MRI examinations can present a diagnostic challenge. Renal cell carcinoma (RCC) and angiomyolipoma (AML) are the most common incidental malignant and benign renal lesions but may present with similar US features. US elastography is a non-invasive technique that can assess tissue elasticity, has shown promising results in many clinical settings, and could be able to differentiate between benign and malignant renal lesions based on tissue stiffness. The purpose of this article is to systematically review the applications of US elastography in the characterization of solid renal masses and to derive and compare the summary estimates of different stiffness values across different lesion subtypes. In December 2022, a systematic search was carried out on the MEDLINE (PubMed) and EMBASE databases to retrieve studies on the application of US elastography in the characterization of solid renal masses. After article selection by three researchers, 14 studies entered qualitative synthesis. A total of 1190 patients were included, and the elastography data of 959 lesions were examined: 317/959 (33%) benign and 642/959 (67%) malignant. Among the malignancies, 590 (91%) were RCC, whereas, among the 317 benign lesions, 244 (77%) were AML. All lesions were classified using a histopathological (biopsy or operative specimen) or imaging (US follow-up/CT/MRI) reference standard. After data extraction and methodological quality evaluation, quantitative synthesis was performed on 12 studies, 4 using strain elastography (SE) and 8 using shear wave elastography (SWE), with single- and double-arm random-effects meta-analyses. Lesion stiffness measured with SE was available in four studies, with an RCC strain ratio higher than the AML strain ratio both in an indirect comparison (Cochran’s Q test p = 0.014) and in a direct comparison (p = 0.021). Conversely, the SWE measurements of RCC and AML stiffness did not significantly differ either at an indirect comparison (p = 0.055) or direct comparison (p = 0.114). Full article

A 56-year-old man with a previous right nephrectomy for multiple papillary renal cell carcinomas (pRCC) underwent a follow-up CT scan. Using a dual-layer dual-energy CT (dlDECT), we demonstrated the presence of a small amount of fat in a 2.5 cm pRCC that mimicked the diagnosis of angiomyolipoma (AML). Histological examination demonstrated the absence of macroscopic intratumoral adipose tissue, showing a fair amount of enlarged foam macrophages loaded with intracytoplasmic lipids. The presence of fat density in an RCC is an extremely rare occurrence in the literature. To our knowledge, this is the first description using dlDECT of a minimal amount of fat tissue in a small RCC due to the presence of tumor-associated foam macrophages. Radiologists should be aware of this possibility when characterizing a renal mass with DECT. The option of RCCs must be considered, especially in the case of masses with an aggressive character or a positive history of RCC. Full article