The Predictive Power of Bosniak 3 and 4 Cystic Renal Lesion Categorization Using Contrast-Enhanced Ultrasound.

OBJECTIVES: Contrast-enhanced ultrasound (CEUS) is increasingly utilized for the noninvasive assessment of renal cystic lesions, using the Bosniak grading system. Bosniak 3-4 lesions require surgical referral, which allows correlation with the histopathological outcome. METHODS: In this single-center, retrospective study we evaluated renal CEUS exams conducted with SonoVue® with a diagnosis of a Bosniak 3 or 4 lesion between 2019 and 2022. A total of 49 patients and 50 lesions met the inclusion criteria, 31 lesions had available histopathological results. Patient demographics, cyst morphology, and dominant imaging features were registered. The histopathological diagnosis was considered a reference standard. RESULTS: Positive predictive power (PPV) for neoplastic lesions was comparable in the Bosniak 3 and 4 categories (75 vs 93.3%, P = .33), while PPV for histopathologically malignant lesion was considerably higher in the latter group (25 vs 93.33%, P = .0002). None of the lesions which had vividly enhancing thin septa as their dominant CEUS feature were malignant. Oncocytoma, multilocular cystic renal neoplasm of low malignant potential, and cystic nephroma were the major benign entities among Bosniak 3 lesions. Localized cystic kidney disease and hemorrhagic cysts were found to be the primary mimickers leading to false positive imaging findings. CONCLUSIONS: CEUS has a high predictive power for malignancy in the Bosniak 4 category, which is not maintained in the Bosniak 3 group due to the large proportion of benign lesions. Adherence to rigorous rule-in criteria and active surveillance strategies need to be considered for equivocal CEUS Bosniak 3 lesions.

Intra- and Interobserver Study Investigating the Adapted EFSUMB Bosniak Cyst Categorization Proposed for Contrast-Enhanced Ultrasound (CEUS) in 2020.

BACKGROUND: To investigate the inter- and intraobserver variability in comparison to an expert gold standard of the new and modified renal cyst Bosniak classification proposed for contrast-enhanced ultrasound findings (CEUS) by the European Federation of Societies for Ultrasound in Medicine and Biology (EFSUMB) in 2020. MATERIALS AND METHODS: 84 CEUS examinations for the evaluation of renal cysts were evaluated retrospectively by six readers with different levels of ultrasound expertise using the modified Bosniak classification proposed for CEUS. All cases were anonymized, and each case was rated twice in randomized order. The consensus reading of two experts served as the gold standard, to which all other readers were compared. Statistical analysis was performed using Cohen's weighted kappa tests, where appropriate. RESULTS: Intraobserver variability showed substantial to almost perfect agreement (lowest kappa κ=0.74; highest kappa κ=0.94), with expert level observers achieving the best results. Comparison to the gold standard was almost perfect for experts (highest kappa κ=0.95) and lower for beginner and intermediate level readers still achieving mostly substantial agreement (lowest kappa κ=0.59). Confidence of rating was highest for Bosniak classes I and IV and lowest for classes IIF and III. CONCLUSION: Categorization of cystic renal lesions based on the Bosniak classification proposed by the EFSUMB in 2020 showed very good reproducibility. While even less experienced observers achieved mostly substantial agreement, training remains a major factor for better diagnostic performance.

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.

OBJECTIVE: Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including congenital abnormalities of the kidney and urinary tract (CAKUT), maturity onset diabetes of the young, type 5, and neurodevelopmental disorders. Structural and/or functional renal disease is the most common phenotypic feature, although the prenatal renal phenotypes and the postnatal correlates have not been well characterized. METHOD: We reviewed pre- and postnatal medical records of 26 cases with prenatally or postnatally identified 17q12/HNF1B microdeletions (by chromosomal microarray or targeted gene sequencing), obtained through a multicenter collaboration. We specifically evaluated 17 of these cases (65%) with reported prenatal renal ultrasound findings. RESULTS: Heterogeneous prenatal renal phenotypes were noted, most commonly renal cysts (41%, n = 7/17) and echogenic kidneys (41%), although nonspecific dysplasia, enlarged kidneys, hydronephrosis, pelvic kidney with hydroureter, and lower urinary tract obstruction were also reported. Postnatally, most individuals developed renal cysts (73%, 11/15 live births), and there were no cases of end-stage renal disease during childhood or the follow-up period. CONCLUSION: Our findings demonstrate that copy number variant analysis to assess for 17q12 microdeletion should be considered for a variety of prenatally detected renal anomalies. It is important to distinguish 17q12 microdeletion from other etiologies of CAKUT as the prognosis for renal function and presence of associated findings are distinct and may influence pregnancy and postnatal management.

Relationship Between Pancreatic Cysts and Cysts in Other Organs in Patients Undergoing Medical Checkup.

OBJECTIVE: We investigated the association between pancreatic cysts and cystic diseases of other organs using abdominal ultrasonography in patients undergoing medical checkup. METHODS: Between April 2021 and March 2022, 4496 patients had a comprehensive medical checkup at our hospital, which included abdominal ultrasonography. RESULTS: Among 4496 patients, 172 (3.8%), 1592 (35.4%), and 1425 (31.7%) had pancreatic, liver, and renal cysts, respectively. Multivariate analysis revealed that the significant factors were female sex and the presence of renal cysts. CONCLUSION: Pancreatic cysts were more common in females. Renal cysts are relatively commonly detected on abdominal ultrasonography. If renal cysts are detected, comorbidities with pancreatic cysts should be considered.

A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.

BACKGROUND: Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign", and variable organ involvement (such as eye, kidney, liver, and skeleton). Here, we present a case of JS in a Chinese boy. CASE PRESENTATION: An 11-year-old Chinese boy presented with neonatal asphyxiation and hypoxia, strabismus, subsequent developmental delay, ataxia and end-stage kidney disease (ESKD). Routine blood tests showed severe anemia, increasing blood urea nitrogen and creatinine, elevated parathyroid hormone, hypocalcemia, hypokalemia and metabolic acidosis. Urine tests showed mild proteinuria. Ultrasound showed two small kidneys. Brain magnetic resonance imaging (MRI) showed dysplasia of the cerebellar vermis and extension of the upper cerebellar feet with the "molar tooth sign". Genetic analysis showed novel compound heterozygous mutations in the RPGRIP1L gene [p.L447fs*7(p.Leu447fsTer7) and p.G908V (p.Gly908Val)]. CONCLUSION: In the present study, we identified novel compound heterozygous mutations in the RPGRIP1L gene in a Chinese boy. The clinical and genetic findings of this study will expand the understanding of JS.

[Effect of a simple kidney cyst on renal function].

INTRODUCTION: Renal cysts are a common disease that occurs at a rate of 7-10%. Currently there are no clinical recommendations for the treatment of patients with simple renal cysts. In the current literature there is some evidence that a simple renal cyst has negative effects on renal function. Decreased renal function occurs due to partial atrophy and loss of the renal parenchyma (in the "crater" area at the base of the cyst) caused by compression. Therefore, the efforts to analyze the effect of simple kidney cysts on kidney function and identify the characteristics of the cyst that affect renal function to determine the indications for surgical treatment remains a substantial task. The aim of the study was to analyze the effect of simple renal cysts on renal function, to investigate the relationship between cyst size, atrophied parenchyma volume, and renal function, and to determine indications for surgical treatment of simple renal cysts. MATERIALS AND METHODS: We conducted a prospective cohort study. The study included 109 patients with simple renal cysts. Patients with a solitary cyst of the right or left renal kidney, grade I-II according to Bosniak classification, were included in the study. The estimated glomerular filtration rate (eGFR) of the patients was calculated using various formulas. A contrast CT scan of the urinary tract was also performed to determine the maximum size of the cyst, calculate the volume of the renal parenchyma, and the volume of the lost (atrophied) parenchyma. Patients underwent renal scintigraphy with calculation of total GFR and split renal function. We analyzed the symmetry of the function of both kidneys by comparing the GFR of the affected and healthy kidneys, analyzed the relationship between the presence of a kidney cyst and a decrease in GFR, between the maximum size of a renal cyst and a decrease in its function compared with that of a healthy kidney. We also analyzed the correspondence of total GFR values obtained in renal scintigraphy and GFR values calculated according to the formulas. RESULTS: Data from 109 patients were available for analysis; the mean blood creatinine was 87.4 mol/L. The median maximum cyst size was 80 mm. The median baseline volume of the affected kidney parenchyma was 174 ml, the median volume of the lost parenchyma was 49 ml, and the median proportion of the lost parenchyma was 28%. The median total GFR was 77.07 ml/min. The median GFR of the healthy kidney was 45.49 mL/min, and the median GFR of the kidney affected by the cyst was 34.46 mL/min. The median difference in GFR of the healthy and affected kidney units was 11 mL/min and was statistically significant. Comparison of the eGFR values obtained by the formulas with the reference values of GFR obtained by scintigraphy showed that the Cockcroft-Gault formula with standardization on the body surface area calculated closest eGFR values to the reference ones. Correlation analysis revealed a statistically significant association between the proportion of lost parenchyma volume and the maximum cyst size: =0.37 with 95% CI [0.20; 0.52] (p-value = 0). A multivariate logistic regression model revealed that a statistically significant factor influencing the probability of a significant decrease in GFR was the percent of lost renal parenchyma volume (OR=1,13; =0). CONCLUSIONS: Our study showed that growth of renal cysts associated with renal parenchyma atrophy and decrease of GFR of the affected kidney. An increase in the volume of atrophied parenchyma leads to the decrease in GFR of the affected kidney. The obtained data suggest that performing dynamic renal scintigraphy to assess the decrease in affected renal function and determine the indications for surgical treatment of renal cysts is a reasonable recommendation. According to the results of the study, the loss of 20% of the renal parenchyma can be considered an indication for renal scintigraphy. The Cockcroft-Gault formula with standardization on the body surface area allows to calculate closest GFR values to those obtained by scintigraphy and, therefore, can be recommended as the optimal formula for calculating eGFR in daily clinical practice.

Clinical Evaluation of Cystic Renal Masses With Bosniak Classification by Contrast-Enhanced Ultrasound and Contrast-Enhanced Computer Tomography.

OBJECTIVES: The study aims to compare retrospectively three clinically applied methods for the diagnostic performance of cystic renal masses (CRMs) by contrast-enhanced ultrasound (CEUS) and contrast-enhanced computer tomography (CECT) with Bosniak classification system. METHODS: A total of 52 cases of Bosniak II-IV CRMs in 49 consecutive patients were diagnosed from January 2013 to July 2022 and their data were analyzed. All patients had been subjected to CEUS and CECT simultaneously. Pathological diagnoses and masses stability were used as standard references to determine whether lesions were malignant or benign. Then 49 CRMs only with pathologic results were classified into group 1 and 2. RESULTS: A total of 52 CRMs in 49 enrolled patients were classified into 8 category II, 16 category IIF, 15 category III, and 13 category IV by CEUS (EFSUMB 2020), 10 category II, 13 category IIF, 16 category III, and 13 category IV by CEUS (V2019), while 15 category II, 9 category IIF, 13 category III, and 15 category IV by CECT (V2019). Pathological results and masses stability longer than 5 years follow-up performed substantially for CEUS (EFSUMB 2020), CEUS (V2019), and CECT (V2019) (kappa values were 0.696, 0.735, and 0.696, respectively). Among 49 pathologic approving CRMs, wall/septation thickness ≥4 mm, wall/septation thickness, presence of enhancing nodule and the diameter were found to be statistically significant for malignancy. Twenty-two malignant masses were correctly diagnosed by CEUS (V2019), while 21 malignant masses were both correctly diagnosed by CEUS (EFSUMB 2020) and CECT (V2019), and 1 mass was misdiagnosed. CONCLUSIONS: Bosniak classification of EFSUMB 2020 version might be as accurate as version 2019 CEUS and version 2019 CECT in diagnosing CRMs, and CEUS is found to have an excellent safety profile in dealing with clinical works.

The efficacy of the new Bosniak classification v.2019 in benign lesions prediction within the higher Bosniak cysts classes.

INTRODUCTION: Identification of benign lesions among higher classes of renal Bosniak cysts who are vulnerable to active surveillance instead of surgical approach is still questionable. We aimed in this study to delineate the efficacy of the new Bosniak v2019 classification in benign lesions identification among those cases with higher Bosniak classes in comparison with the final histopathology. MATERIALS: In a retrospective review between 2010 and 2021 for patients diagnosed as higher classes Bosniak renal masses was done. Patients' demographics and radiological data i.e.,: age, gender, and final Bosniak v2019 categorization for class III: (1) Enhancing thick wall/septa >4 mm (III-WS) and (2) Enhancing irregular wall/septa or convex protrusion with obtuse margins <3 mm (III-OP) and for class IV as: (1) Enhancing nodule or convex protrusion with obtuse margins >4 mm (IV-OP) and (2) Enhancing nodule or convex protrusion with acute margins of any size (IV-AP). RESULTS: A total of 137 patients were included. Bosniak III was identified in 56 patients. Malignancy was detected in 74.5% of resected masses. Among resected Bosniak III cyst, 46.4% were benign histopathologically. Male gender and Bosniak III-OP were independent risks for malignancy among the resected Bosniak III cysts. Conversely, in resected Bosniak IV renal cysts, only 9 of resected masses were benign. In univariate analysis, male gender, absence of multilocular cyst and endophytic masses were predictors for malignancy in resected Bosniak IV cyst. None of the previous predictors was significant in multivariate analysis. CONCLUSION: The Bosniak subclassification v.2019 can define benign lesions. Bosniak III-OP was an independent risk for malignancy detection among the resected Bosniak III cysts.

Review of outcomes of using lower ethanol concentration (83%) in percutaneous ultrasound-guided renal cyst sclerotherapy in dogs.

BACKGROUND: Percutaneous renal cyst sclerotherapy (PRCS) as a treatment for renal cysts is usually performed with a high concentration of ethanol (≥ 90%). This study reviewed cases in which a lower concentration of ethanol (83%) was used for the procedure in dogs. METHODS: Records of cases of renal cysts treated by sclerotherapy using 83% ethanol in dogs were reviewed. Outcomes of the treatment were evaluated by comparing volumes of renal cysts before the procedure and the volumes after treatment, using ultrasound images with the volume reduction rates classified as follows: < 50% of initial volume (failed); ≥ 50% but < 80% of initial volume (partial success); ≥ 80% but < 95% of initial volume (great success); ≥ 95% of initial volume (complete success). RESULTS: Out of nine dog kidneys, renal cysts sclerotherapy with 83% ethanol achieved partial success in one kidney, great success in four, and complete success in the other four. No side effect was observed. The mean of the volume-reduction rates was 90.00 ± 11.00 while the minimum and maximum reduction rates were 65% and 100%, respectively. CONCLUSIONS: The lower ethanol concentration (83%) is good for disinfecting kidneys in PRCS.

CT-derived textural analysis parameters discriminate high-attenuation renal cysts from solid renal neoplasms.

AIM: To assess the utility of textural features on computed tomography (CT) to differentiate high-attenuation cysts from solid renal neoplasms among indeterminate renal lesions detected incidentally on CT. MATERIALS AND METHODS: Patients were included if they had an indeterminate renal lesion on CT that was subsequently characterised on ultrasound or magnetic resonance imaging (MRI). Up to three lesions per patient were included if they had a size ≥10 mm and density of 20-70 HU on unenhanced CT or any single phase of contrast-enhanced CT. Cases were categorised as benign or most likely benign cysts (Bosniak II and IIF) versus indeterminate (Bosniak III), mixed solid and cystic (Bosniak IV), or solid renal lesions. A random forest model was generated using 95 textural parameters and four clinical parameters for each lesion. RESULTS: Two hundred and thirty-four patients were included who had a total of 278 lesions. Of these, 193 (69%) were benign or most likely benign cysts and 85 (31%) were indeterminate, mixed cystic and solid, or solid renal lesions. The random forest model had an area under the curve of 0.71 (95% confidence interval [CI]: 0.65, 0.78), with a sensitivity and specificity of 81.2% and 38.9%, respectively. CONCLUSION: A multivariate model including textural and clinical parameters had moderate overall performance for discriminating benign or likely benign cysts from indeterminate, mixed solid and cystic, or solid renal lesions. This study serves as a proof of concept and may reduce the need for further follow-up by characterising a significant portion of indeterminate lesions on CT as benign.

Non-suppression of renin by renal cysts in a subset of patients with primary aldosteronism-a prospective observational single center study.

BACKGROUND: Screening for primary aldosteronism is based on measuring aldosterone-to-renin ratio. Non-suppressed renin may cause false negative screening results, and such patients may miss focused, potentially curable treatment. We investigated the association between renal cysts and non-suppressed plasma renin. METHODS: Altogether, 114 consecutive patients with confirmed primary aldosteronism undergoing adrenal vein sampling were prospectively recruited between October 7, 2020 and December 30, 2021. During the procedure, plasma samples for renin analyses were collected from the right and left renal veins and the inferior vena cava. Renal cysts were identified using contrast-enhanced computed tomography. RESULTS: Renal cysts were found in 58.2% of the 114 patients. Neither screening nor renal vein renin concentrations were significantly different in patients with and without cysts, or when the kidneys with and without cysts were evaluated. However, cysts were significantly more prevalent in the "high-normal renin" group (cut point 23.0 mU/L) than in the "low to low-normal renin" group (90.9%, n = 11 vs. 56.0%, n = 102, P = .027, respectively). All patients ≤50 years of age in the "high-normal renin" group had renal cysts. Strong correlations were found between renin concentrations in the right and left renal veins (r = .984), and between renin concentration and renin activity in the inferior vena cava (r = .817). CONCLUSION: Renal cysts are found in the majority of patients with primary aldosteronism, and they may interfere with diagnostics, especially in patients aged 50 years or less. In patients with non-suppressed renin due to renal cysts, aldosterone-to-renin ratio below the diagnostic threshold does not always exclude the diagnosis of primary aldosteronism.

Pseudoenhancement in Cystic Renal Lesions - Impact of Virtual Monoenergetic Images of Photon-Counting Detector CT on Lesion Classification.

RATIONALE AND OBJECTIVES: To investigate the impact of virtual monoenergetic images (VMI) from photon-counting detector CT (PCD-CT) on the enhancement and classification of renal cysts. MATERIALS AND METHODS: Adults with renal cysts (≥7 mm) who received a triphasic examination on a clinical PCD-CT (120 kVp; IQ level 68) between July 2021 and March 2022 were retrospectively identified. Only non-enhancing cysts (enhancement<10 HU between unenhanced and venous phase at 70 keV) were included. VMI from 40 to 190 keV with increments of 10 keV were reconstructed from the venous phase. Enhancement was measured to classify each lesion as non-enhancing (<10 HU), equivocally enhancing (10-19 HU), and definitely enhancing (≥20 HU). Classification changes as a function of VMI were assessed. Pearson correlation coefficient, the Kruskal-Wallis and the Chi-square test were used. RESULTS: A total of 86 patients (mean age, 74 ± 9 years; 74 male) with 160 non-enhancing renal cysts (17.6 ± 10 mm) were included. CT attenuation of the cysts increased from higher to lower VMI levels with a mean attenuation of 4 ± 11 HU at 190 keV to 36 ± 17 HU at 40 keV. Mean attenuation of the renal parenchyma was 43 ± 4 HU at 190 keV and 414 ± 71 HU at 40 keV. No cyst exhibited enhancement from 70 keV to 190 keV. At 40, 50, and 60 keV, 35% (56/160), 29% (47/160) and 9% (15/160) of cysts showed equivocal and 46% (74/160), 10% (16/160), and 0% (0/160) definite enhancement, respectively. There was no significant influence of size (P=.13), cyst location (P=.9) and BMI (P=.19) on enhancement classification. CONCLUSION: VMI has a relevant impact on enhancement and classification of renal cysts with misclassification in a large number of cases at energy levels below 70 keV.

Prevalence of malignant or possibly malignant renal masses among homogeneous low-attenuation masses that are too small to characterize at computed tomography.

BACKGROUND: Homogeneous low-attenuation renal masses that are too small to characterize (tstc) are considered clinically insignificant; however, based primarily on expert opinion. OBJECTIVE: To determine the prevalence of malignant or possibly malignant masses among homogeneous low-attenuation renal masses that are tstc. MATERIALS AND METHODS: This retrospective cross-sectional study evaluated 75 patients with 104 tstc who underwent renal CT and MRI between Jan 2016 and Jul 2022. Low-attenuation renal masses measuring < 1 cm in size were identified and, independently evaluated by two blinded radiologists measuring attenuation (Hounsfield Units, HU) at non-contrast enhanced CT (NECT) and nephrographic phase contrast-enhanced (CE)-CT when possible. Reference standard for benign cyst was MRI and for other renal masses was pathology or MRI showing enhancement. RESULTS: Average tstc size was 6 ± 2 (range 2-10) mm. Considering only incidental tstc (CT performed for another reason), 100% (98/98, 95%CI 96-100%) tstc were benign. Overall, considering both incidental and tstc referred for further characterization, there were 94% (98/104; 95% Confidence Intervals [CIs] 88-98%) benign cysts and 6% (6/104; 95%CI 2-12%) other masses (1 Bosniak 2F cystic mass, 2 probable renal cell carcinoma (RCC), three metastases). Pseudoenhancement, attenuation change > 10 HU or > 20 HU, was present in 29% (15/59) and 12% (7/59) benign cysts. All six other masses enhanced by > 20 HU. CECT threshold of ≤ 30 HU correctly classified 62% of benign cysts (61/98). All six other masses measured > 30 HU at CECT. CONCLUSION: The prevalence of malignant or possibly malignant renal masses among homogeneous low-attenuation too small to characterize masses among incidental tstc masses is near zero. Attenuation measurements misclassify a substantial proportion of these cysts, likely due to their small size.

Risk of malignancy in T1-hyperintense Bosniak version 2019 class II and IIF cystic renal masses.

BACKGROUND: Bosniak classification version 2019 includes cystic masses in class II and IIF based partly on their hyperintense appearance at T1-weighted MRI. The prevalence of malignancy in non-enhancing heterogeneously T1-hyperintense masses is unknown, nor whether the pattern of T1 hyperintensity affects malignancy likelihood. PURPOSE: To determine the malignancy proportion among six patterns of T1 hyperintensity within non-enhancing cystic renal masses. METHODS: This retrospective, single-institution study included 72 Bosniak class II and IIF, non-enhancing, T1-hyperintense cystic renal masses. Diagnosis was confirmed by histopathology or by follow-up imaging demonstrating 5-year size and morphologic stability, decreased in size by ≥ 30%, resolution, or Bosniak down-classification. Six patterns of T1 hyperintensity were pre-defined: homogeneous (pattern A), fluid-fluid level (pattern B), peripherally markedly T1-hyperintense (pattern C), containing a T1-hyperintense non-enhancing nodule (pattern D), peripherally T1-hypointense (pattern E), and heterogeneously T1-hyperintense without a distinct pattern (pattern F). Three readers independently assigned each mass to a pattern. Individual and mean malignancy proportion were determined. Mann-Whitney test and Fischer's exact test compared the likelihood of malignancy between patterns. Inter-reader agreement was analyzed with Gwet's agreement coefficient (AC). RESULTS: Among 72 masses, the mean number of masses assigned was 11 (15%) to pattern A, 21 (29%) to pattern B, 6 (8%) to pattern C, 7 (10%) to pattern D, 5 (7%) to pattern E, and 22 (31%) to pattern F. Five of 72 masses (7%) were malignant; none was assigned pattern A, B, or D. Mean malignancy proportion was 5% (0/9, 1/6, and 0/4) for pattern C, 13% (0/4, 1/3, and 1/7) for pattern E, and 18% (5/20, 3/21, and 4/25) for pattern F. Malignant masses were more likely assigned to pattern E or F (p = 0.003-0.039). Inter-reader agreement was substantial (Gwet's AC: 0.68). CONCLUSION: Bosniak version 2019 class IIF masses that are non-enhancing and heterogeneously T1-hyperintense with a fluid-fluid level are likely benign. Those that are non-enhancing and heterogeneously T1-hyperintense without a distinct pattern have a malignancy proportion up to 25% (5/20).

Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome.

Joubert syndrome (JS) is a rare ciliopathy that presents with the triad of hypotonia, developmental delay and molar tooth sign (MTS) in brain MRI. Next-generation sequencing has identified about 35 genes which are known to cause JS of which CPLANE 1 mutation is found in 8%-10% of cases. We report a case of JS in an Indian neonate who presented with hypotonia, dysmorphic facies, polydactyly, syndactyly and occipital encephalocele. MRI of the brain revealed MTS, and compound heterozygous mutations in CPLANE 1 gene were detected by clinical exome sequencing, one of them a novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in exon 26, which was inherited from the parents.

Accumulation of iodine or other similar K-edge equivalent element within renal cysts mimics enhancing masses at single-phase dual-energy CT.

OBJECTIVE: To describe instances of iodine, or other element with similar K-edge to iodine, accumulating in benign renal cysts and simulating solid renal masses (SRM) at single-phase contrast-enhanced (CE) dual-energy CT (DECT). METHODS: During the course of routine clinical practice, instances of benign renal cysts (reference standard true non-contrast enhanced CT [NCCT] homogeneous attenuation <10 HU and not enhancing, or MRI) simulating SRM at follow-up single-phase CE-DECT due to iodine (or other element) accumulation were documented in two institutions over a 3-month observation period in 2021. RESULTS: Five Bosniak one renal cysts (12 ± 7 mm) in five patients changed nature on follow-up imaging simulating SRM at CE-DECT. At time of DECT, cyst attenuation on true NCCT (mean 91 ± 25 HU [Range 56-120]) was significantly higher compared to virtual NCCT (mean 11 ± 22 HU [-23-30], p = 0.003) and all five cysts showed internal iodine content on DECT iodine maps with concentration >1.9 mg ml-1 (mean 8.2 ± 7.6 mg ml-1 [2.8-20.9]). CONCLUSION: The accumulation of iodine, or other element with similar K-edge to iodine, in benign renal cysts could simulate enhancing renal masses at single-phase contrast-enhanced DECT.

Pathological and Clinical Outcomes in a Large Surveillance and Intervention Cohort of Radiographically Cystic Renal Masses.

PURPOSE: We evaluated oncologic risks in a large cohort of patients with radiographic cystic renal masses who underwent active surveillance or intervention. MATERIALS AND METHODS: A single-institutional database of 4,340 kidney lesions managed with either active surveillance or intervention between 2000-2020 was queried for radiographically cystic renal masses. Association of radiographic tumor characteristics and high-grade pathology was evaluated. RESULTS: We identified 387 radiographically confirmed cystic lesions in 367 patients. Of these, 247 were resected (n=240) or ablated (n=7; n=247, 203 immediate vs 44 delayed intervention). Pathologically, 23% (n=56) demonstrated high-grade pathology. Cystic features were explicitly described by pathology in only 18% (n=33) of all lesions and in 7% (n=4) of high-grade lesions. Of the intervention cohort, African American race, male gender, and Bosniak score were associated with high-grade pathology (P < .05). On active surveillance (n=184), Bosniak IV lesions demonstrated faster growth rates than IIF and III lesions (2.7 vs 0.6 and 0.5 mm/y, P ≤ .001); however, growth rates were not associated with high-grade pathology (P = .5). No difference in cancer-specific survival was identified when comparing intervention vs active surveillance at 5 years (99% vs 100%, P = .2). No difference in recurrence was observed between immediate intervention vs delayed intervention (P > .9). CONCLUSIONS: A disconnect between "cystic" designation on imaging and pathology exists for renal lesions. Over 80% of radiographic Bosniak cystic lesions are not described as "cystic" on pathology reports. More than 1 in 5 resected cystic renal lesions demonstrated high-grade disease. Despite this finding, judiciously managed active surveillance ± delayed intervention is a safe and effective management option for most radiographic cystic renal masses.