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Renal epithelioid angiomyolipoma (EAML) (epithelioid PEComa of the kidney), is a rare subtype of renal angiomyolipoma with the potential for aggressive behavior and a known diagnostically challenging entity. We present a renal EAML with unusual papillary architecture and tumor cells with abundant eosinophilic cytoplasm and cherry-red nucleoli with perinucleolar halos, strongly mimicking a fumarate hydratase (FH) deficient renal cell carcinoma (RCC). We herein report our findings and discuss the morphologic, immunohistochemical, and molecular pitfalls to consider in the differential of EAML, including with FH-deficient RCC and more recently described entities: TFEB-amplified RCC and other renal tumors with alterations in TSC1/2. Novel findings in this tumor include papillary morphology and a novel telomerase reverse transcriptase promoter rearrangement, which has not been previously reported in EAML.

Context.--: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors of uncertain histogenesis expressing smooth muscle and melanocytic markers. The clinicopathologic spectrum in young patients is not well documented. Objective.--: To describe a multi-institutional series of PEComas in children, adolescents, and young adults. Design.--: PEComas, not otherwise specified (NOS); angiomyolipomas (AMLs); lymphangioleiomyomatosis; and clear cell sugar tumors were retrospectively identified from 6 institutions and the authors' files. Results.--: Seventy PEComas in 64 patients (median age, 15 years) were identified. They were more common in females (45 of 64 patients), occurring predominantly in the kidney (53 of 70), followed by the liver (6 of 70). Thirty-four patients had confirmed tuberous sclerosis complex (TSC), 3 suspected TSC mosaicism, 2 Li-Fraumeni syndrome (LFS) and 1 neurofibromatosis type 1. Most common variants were classic (49 of 70) and epithelioid (8 of 70) AML. Among patients with AMLs, most (34 of 47) had TSC, and more TSC patients had multiple AMLs (15 of 36) than non-TSC patients (2 of 13). Two TSC patients developed malignant transformation of classic AMLs: 1 angiosarcomatous and 1 malignant epithelioid. Lymphangioleiomyomatosis (5 of 70) occurred in females only, usually in the TSC context (4 of 5). PEComas-NOS (6 of 70) occurred exclusively in non-TSC patients, 2 of whom had LFS (2 of 6). Three were malignant, 1 had uncertain malignant potential, and 2 were benign. All 4 PEComas-NOS in non-LFS patients had TFE3 rearrangements. Conclusions.--: Compared to the general population, TSC was more prevalent in our cohort; PEComas-NOS showed more frequent TFE3 rearrangements and possible association with LFS. This series expands the spectrum of PEComas in young patients and demonstrates molecular features and germline contexts that set them apart from older patients. [ABSTRACT FROM AUTHOR]

Rheumatoid arthritis (RA) is a common autoimmune disease. Tuberous sclerosis complex(TSC) is a rare autosomal dominant disorder. We report a case of RA with TSC. The patient was a 46-year-old woman with polyarthritis and cough symptoms, rheumatoid arthritis associated interstitial lung disease (RA-ILD) was initially considered, and after more than 3 months of anti-rheumatic treatment, the patient still had cough, and further examination revealed that the patient had lymphangioleiomyomatosis in the lungs, hepatic and renal angiomyolipomas, multiple subependymal nodules, Vertebral osteosclerotic nodules, as well as facial angiofibromas and periungual fibroma, RA was finally diagnosed with TSC, and everolimus 10mg qd was added to anti-rheumatic therapy for 1 month, and the patient's cough symptoms were relieved. [ABSTRACT FROM AUTHOR]

Background: For renal hilar angiomyolipoma, general surgical resection is often quite challenging. The aim of this study is to evaluate the safety and efficacy of an innovative robot-assisted laparoscopic strategy that combines tumor enucleation with tumor aspiration in the treatment of renal hilar angiomyolipoma. Methods: The clinical data of 38 patients with renal hilar angiomyolipoma who went through robotic tumor enucleation combined with tumor aspiration in the Department of Urology, the Affiliated Hospital of Nanjing University Medical School, from December 2019 to December 2022 were retrospectively analyzed. The basic characteristics, the perioperative variables, intraoperative procedures, and postoperative complications were all recorded. Patients were followed up to evaluate the angiomyolipoma recurrence and the renal function by urologic CT or ultrasound and renal function tests. Results: All surgeries were successfully completed without conversion to radical nephrectomy or open surgery. One patient developed urinary extravasation 10 days after surgery, and was readmitted to the hospital for transurethral ureteral stenting considering the injury of the renal collecting system. The median operative time was 181.5 (123.8-206.3) min, the warm ischemia time was 20.0 (17.3–24.0) min, the blood loss was 125 (100.0-262.5) ml, and no patients received blood transfusion during and after surgery. The median hospitalization time was 7.0 (6.0–9.0) days, and the duration of indwelling drainage tube was 2.0 (2.0–3.0) days. The serum creatinine (Scr) on the first day, 3 months, and 6 months after surgery were 55.5 (50.8–62.8) µmol/L, 55.5 (48.0–62.0) µmol/L and 54.0 (51.8–63.5) µmol/L, respectively, and there was no significant difference compared with the preoperative level 56.0 (47.8–60.3) µmol/L. All patients were followed up after surgery, and the urinary CT scan or renal color doppler ultrasound, and renal function were reexamined. The median follow-up time of all patients was 19.0 (14.75-33.0) months, and no local recurrence of angiomyolipoma was seen in all patients. Conclusions: The surgical strategy of robot-assisted laparoscopic tumor enucleation combined with tumor aspiration is safe and effective in the treatment of renal hilar angiomyolipoma. [ABSTRACT FROM AUTHOR]

Purpose: Mesenchymal neoplasms composed of vascular, smooth muscle, and adipocytic components are uncommon in the nasal cavity. While angioleiomyoma (AL) is a smooth muscle tumor in the Head & Neck WHO classification, it is considered of pericytic origin in the Skin as well as Soft Tissue and Bone classifications. For nasal AL with an adipocytic component, the terms AL with adipocytic differentiation and angiomyolipoma (AML) have been applied, among others. AML is a type of perivascular epithelioid cell tumor (PEComa), most often arising in the kidney, sometimes associated with the tuberous sclerosis complex (TSC). It is uncertain whether nasal cavity AML and AL are best considered hamartomas or neoplasms, as their genetics are largely unexplored. Methods: We performed a multi-institutional retrospective study of nasal cavity mesenchymal lesions. Patient demographics, clinical histories, and histologic and immunohistochemical findings were collected. DNA and RNA were extracted from formalin-fixed, paraffin-embedded tissue and analyzed by SNP-based chromosomal microarray, targeted RNA fusion sequencing, and whole-exome sequencing. Results: Fifteen lesions (3–42 mm) were identified, predominantly in male (87%) patients with a median age of 60. Patients typically presented with obstructive symptoms, and none had a history of TSC. One AL was a recurrence from six years prior; 11 cases showed no recurrence (median 4.7 years, range: 0.88–12.4). Morphologically, 11 AML contained 30–80% smooth muscle, 10–25% vasculature, and 2–60% adipose tissue, while four AL contained 70–80% smooth muscle and 20–30% vasculature. Other histologic observations included ulceration, thrombosis, inflammation, myxoid change, senescent nuclei, and extramedullary hematopoiesis; no well-developed epithelioid cell morphology was identified. Immunohistochemically, all cases were positive for smooth muscle markers (actin, desmin, and/or caldesmon) and negative for melanocytic markers. Molecular analysis revealed loss of 3p and 11q in a single AML. No other known pathogenic copy number or molecular alterations were seen, including in TSC1/2, TFE3, or NOTCH2. Conclusion: Nasal cavity AML lacks morphologic, immunophenotypic, and genetic features of PEComa family AML. The significant histologic overlap between nasal AML and AL without distinguishing molecular features in either entity suggests "sinonasal angioleiomyoma with adipocytic differentiation" may be the most appropriate terminology for hybrid vascular and smooth muscle lesions containing adipocytic components. [ABSTRACT FROM AUTHOR]

Background: Acute flank pain is a common presentation in the Emergency Department (ED). Point-of-care ultrasound (PoCUS) has emerged as an invaluable tool in the evaluation of acute flank pain and provides real-time images resulting in the early identification of the underlying pathology. Case Report: Here we report a case of a young lady presented to the ED with a complaint of right flank pain followed by a syncopal episode. The diagnosis of ruptured angiomyolipoma was made using a PoCUS and an immediate consult to interventional radiology and urology was provided. Conclusion: This case highlights the importance of PoCUS in assessing patients presented to the ED with acute flank pain. Its incorporation into clinical practice promises to revolutionize the approach to renal emergencies, emphasizing its important role in delivering timely and effective care. [ABSTRACT FROM AUTHOR]

Background: Tuberous sclerosis (TSC)–associated kidney disease is a leading cause of mortality in adults with TSC. This study aimed to understand TSC features in children, particularly kidney involvement, to inform clinical care for this specific group. Methods: This retrospective cohort study included all paediatric (< 19 years) TSC cases at a large tertiary paediatric nephrology centre. Relevant data were collected from patients' records, statistical analyses were performed to identify associations between variables, survival probabilities were estimated with Kaplan‒Meier curves, and log-rank tests were conducted to assess survival differences among genetic mutations. Results: A total of 182 children with TSC were included. Among the 145 children with available kidney imaging data, 78.6% (114/145) exhibited kidney lesions. Angiomyolipomas (AMLs) were significantly more prevalent in the TSC2 mutation group (p = 0.018). Children with TSC2 mutations generally had poorer lesion-free survival than those with TSC1 mutations, but this difference was only significant for AMLs (p = 0.030). The change in size of largest AMLs increased with age and doubled in children above 9 years; a similar pattern was observed when stratified by genetic mutation. In contrast, kidney cysts exhibited two peaks: one in children under 5 years (2.31 mm/year) and the second in children between 15–19 years (2.82 mm/year). Chronic kidney disease was observed in 12.3% (10/81) of children, and high-risk AMLs above 3 cm were observed in 9% (13/145). Conclusions: While TSC kidney disease emerges later in the disease course than neurological features, our findings emphasise the importance of kidney surveillance during childhood, including routine kidney imaging, kidney function, and blood pressure monitoring. [ABSTRACT FROM AUTHOR]

With the continuous development of robot-assisted technology, Robot-assisted Laparoscopic Partial Nephrectomy (RALPN) has gradually become an optional method for the treatment of Hemorrhage secondary to angiomyolipoma (HSA). However, there are rare clinical reports of the primary RALPN for HSA. Therefore, this research aims to evaluate the efficacy and safety of primary RALPN for HSA. Fourteen patients(six males and eight females), aged 14–56 years, underwent primary RALPN for HSA and were retrospectively analyzed from 2015 to 2023. The initial blood routine examination revealed decreased hemoglobin in all patients, and Contrast-enhanced computed tomography (CT) indicated retroperitoneal hematoma. After correcting shock and electrolyte imbalance through fluid therapy and medical treatment, all primary RALPN procedures were performed with transabdominal access on the side of the Hemorrhage. After tumor resection and hematoma removal with a monopolar Curved Scissor, the absorbable barbed suture was performed for inner and outer running stitches, respectively. Patient demographic information, perioperative characteristics, and functional outcomes were collected and analyzed. The initial tumor size of fourteen patients ranged from 57 to 145 mm, and the RENAL ranged from 7 to 11. All of the HSA was controlled, and primary RALPN was successful. The operating time it was ranged from 105 to 265 min. Postoperatively, one patient exhibited chylous drainage (Clavien-Dindo II), and another patient developed pleural effusion (Clavien-Dindo III). No postoperative transfusion and Digital Subtraction Angiography (DSA) highly selective embolization of the bleeding vessel was needed. No patients developed urinoma or urinary fistula. Within the follow-up period, the overall complications were manageable. Primary RALPN is a safe and effective procedure for HSA, which may be considered an alternative to selective renal artery embolization. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Renal epithelioid angiomyolipoma is a rare and unique subtype of classic angiomyolipoma, characterized by the presence of epithelioid cells. It often presents with nonspecific symptoms and can be easily misdiagnosed due to its similarity to renal cell carcinoma and classic angiomyolipoma in clinical and radiological features. This case report is significant for its demonstration of the challenges in diagnosing epithelioid angiomyolipoma and its emphasis on the importance of accurate differentiation from renal cell carcinoma and classic angiomyolipoma. Case presentation: A 58-year-old Asian female presented with sudden left flank pain and was initially diagnosed with a malignant renal tumor based on imaging studies. She underwent laparoscopic radical nephrectomy, and postoperative histopathology confirmed the diagnosis of epithelioid angiomyolipoma. The patient recovered well and is currently in good health with regular follow-ups. This case highlights the diagnostic challenges, with a focus on the clinical, radiological, and histopathological features that eventually led to the identification of epithelioid angiomyolipoma. Conclusions: Epithelioid angiomyolipoma is easily misdiagnosed in clinical work. When dealing with these patients, it is necessary to make a comprehensive diagnosis based on clinical symptoms, imaging manifestations, and pathological characteristics. [ABSTRACT FROM AUTHOR]

Objectives: To assess the efficacy and safety of preoperative neoadjuvant everolimus in renal angiomyolipomas (AML) patients with or without Tuberous Sclerosis Complex (TSC). Materials and Methods: This multi‐institutional retrospective study enrolled renal AML patients who underwent partial nephrectomy (PN) or total nephrectomy after receiving at least 1 month of pre‐operative everolimus. Imaging evaluations were collected before and after treatment, along with demographic, surgical, and follow‐up information. The primary outcome was tumor volume reduction of ≥25%, with additional outcomes including recurrence, perioperative outcomes, renal function, and safety. Results: From January 2015 to July 2022, 68 renal AML patients were studied—41 with TSC and 27 without. During everolimus treatment, 61.0% (25/41) of TSC patients and 44.4% (12/27) of non‐TSC patients achieved tumor reduction of ≥25%. Additionally, 41.5% (17/41) of TSC patients and 18.5% (5/27) of non‐TSC patients achieved a ≥ 50% reduction. Three TSC patients and 1 non‐TSC patient discontinued treatment due to side‐effects. Most patients (92.7% TSC, 85.2% non‐TSC) underwent PN. After everolimus treatment, the necessary total nephrectomy decreased to 41.2% (7/17) from baseline. Postoperatively, 1 grade 3 and 3 grade 2 complications occurred, with no grade 4 or 5 complications. After a median follow‐up of 24 months, only 1 TSC patient recurred with a diameter >3 cm. Retrospective nature is the major limitation of this study. Conclusion: Everolimus was effective and well‐tolerated in neoadjuvant treatment for renal AML, especially in TSC patients. This neoadjuvant combination strategy of everolimus and PN could effectively controls recurrence and preserves renal function. [ABSTRACT FROM AUTHOR]

Mechanistic target of rapamycin kinase (mTOR) is a member of the phosphatidylinositol-3-hydroxide kinase (PI3 K)-related protein kinase family that functions as a central regulator of cell growth, metabolism, proliferation, and survival. The role of the TSC-mTOR signaling pathway in kidney tumors has been implicated in some hamartoma syndromes; however, with the advent and wide utilization of molecular studies, a growing number of kidney tumors have been linked to somatic or germline mutations involving genes that encode for this pathway, including eosinophilic solid and cystic renal cell carcinoma, low-grade oncocytic tumor, eosinophilic vacuolated tumor, renal cell carcinoma with fibromyomatous stroma and angiomyolipoma, among others. Herein, we review the contemporary developments of mTOR pathway-related renal neoplasia, focusing on the clinicopathologic features of the tumor entities. [ABSTRACT FROM AUTHOR]

Angiomyolipoma (AML) is a neoplasm within the perivascular epithelioid cell tumor family that occurs somewhat frequently in the kidney. Most are indolent and discovered incidentally, with rare tumors demonstrating malignant clinical behavior. A small subset of renal AMLs with epithelioid features are associated with aggressive behavior, and may demonstrate morphologic overlap with renal cell carcinomas (e.g., clear cell renal cell carcinoma (RCC), TFE3-rearranged RCC). Prior studies of spindle cell and epithelioid AMLs have identified rare examples with underlying TFE3 gene fusions. TFE3 protein expression (demonstrated by immunohistochemistry) with no evidence of concurrent TFE3 rearrangements has been reported previously in 4/24 AMLs (17%) (Argani et al. Am J Surg Pathol 34:1395-1406, 2010). Currently, the relationship between TFE3 protein expression, TFE3 fusions, and expression of TFE3-mediated genes remains incompletely understood in renal epithelioid AMLs. We sought to explore these relationships using TFE3 break-apart fluorescence in situ hybridization (FISH) and TRIM63 RNA in situ hybridization (ISH) on epithelioid AMLs with moderate to strong TFE3 expression by immunohistochemistry. RNA sequencing (fusion panel) was performed on two cases with negative FISH results to assess for FISH-cryptic gene fusions. The series comprised five epithelioid AMLs from four patients (three women, one man) aged 13 to 76 years. All were considered positive for TFE3 by immunohistochemistry (2 + /3 + expression). TRIM63 ISH was performed on four specimens from three patients, yielding positive results in 3/3 tumors (100%) that were successfully analyzed. TFE3 break-apart FISH was performed on all samples, demonstrating a TFE3 rearrangement in only 1/4 tumors (25%). RNA sequencing demonstrated the absence of productive TFE3 gene fusions in three tumors with negative break-apart TFE3 FISH results. This study demonstrates that renal epithelioid AMLs overexpress TFE3 and TFE3-mediated genes (TRIM63) even in the absence of TFE3 rearrangements. This finding could be explained by functional upregulation of TFE3 secondary to activation of the mammalian target of rapamycin complex 1 (mTORC1). Expression of TFE3 and TRIM63 in this tumor type represents a potential pitfall, given the morphologic and immunophenotypic overlap between epithelioid AML and TFE3-altered renal cell carcinoma. [ABSTRACT FROM AUTHOR]

We present a case of pulmonary metastasis originating from renal angiomyolipoma (AML), as evidenced by whole-exome sequencing (WES) analysis. Although AML predominantly arises in the kidneys, it can emerge in various body parts, making it important to distinguish between multicentric development and metastasis. However, previous studies have not distinguished between these conditions. Our case features an 82-year-old woman with a history of renal AML who presented with multiple, randomly distributed, bilateral pulmonary nodules of varying size and pure fat densities. The patient's condition followed a benign course over 10 years. Through WES, we discovered shared mutations in pulmonary lesions that were absent in the patient's blood, including a pathological mutation in TSC2, suggesting a metastatic origin from renal AML. Knowledge of the pulmonary manifestations of AML and their distinctive imaging findings can help radiologists and clinicians diagnose and manage patients with similar presentations.

Abstract Background Renal angiomyolipoma (AML) is a prevalent benign tumour of the kidney. However, Wunderlich syndrome, marked by retroperitoneal haemorrhage, remains a rare and critical complication of large AMLs. During pregnancy, AMLs demonstrate an accelerated growth pattern and pose an elevated risk of rupture, leading to massive retroperitoneal haemorrhage. This report presents two compelling cases of life-threatening bleeding AML during the first and third trimesters, shedding light on the urgent need for heightened awareness and management strategies in pregnant women with AML. These cases underscore the novel and crucial aspect of the increased vulnerability of AMLs in pregnancy, emphasizing the importance of timely diagnosis and intervention. Cases presentation The first patient is a 37-year-old lady who presented at 27 weeks of gestation with foetal distress, abdominal pain and hypovolemic shock. Emergency Caesarean section was performed for possible abruptio placenta, and a large non-expanding retroperitoneal hematoma was found intra-operatively. Post-delivery computed tomography (CT) angiography assessment showed left perinephric hematoma from bleeding AML at the lower pole. She was hemodynamically unstable after CT and underwent an emergency nephrectomy. Post-operative recovery was uneventful. The second patient is a 30-year-old lady who presented with right abdominal pain at 11 weeks of gestation with hypotension and an actively bleeding ruptured AML found on the abdominal MRI. She underwent angioembolization at 12 weeks of pregnancy with a radiation shield to protect the foetus. She recovered well after the procedure and continued her pregnancy. Her baby was born healthy at term with no evidence of any congenital malformation. Conclusions When dealing with renal angiomyolipoma during pregnancy, multidisciplinary team management is crucial for the best management care. Stable cases can be treated conservatively, while unstable cases may require angioembolization or nephrectomy. The management plan should prioritize the best outcomes for both the mother and foetus. During the first trimester, angioembolization is safe and effective in controlling bleeding. However, minimizing radiation exposure is crucial, especially during organogenesis. Tailored interventions are essential to optimize outcomes in this unique patient population.

Abstract Background Acute flank pain is a common presentation in the Emergency Department (ED). Point-of-care ultrasound (PoCUS) has emerged as an invaluable tool in the evaluation of acute flank pain and provides real-time images resulting in the early identification of the underlying pathology. Case Report Here we report a case of a young lady presented to the ED with a complaint of right flank pain followed by a syncopal episode. The diagnosis of ruptured angiomyolipoma was made using a PoCUS and an immediate consult to interventional radiology and urology was provided. Conclusion This case highlights the importance of PoCUS in assessing patients presented to the ED with acute flank pain. Its incorporation into clinical practice promises to revolutionize the approach to renal emergencies, emphasizing its important role in delivering timely and effective care.

Abstract With the continuous development of robot-assisted technology, Robot-assisted Laparoscopic Partial Nephrectomy (RALPN) has gradually become an optional method for the treatment of Hemorrhage secondary to angiomyolipoma (HSA). However, there are rare clinical reports of the primary RALPN for HSA. Therefore, this research aims to evaluate the efficacy and safety of primary RALPN for HSA. Fourteen patients(six males and eight females), aged 14–56 years, underwent primary RALPN for HSA and were retrospectively analyzed from 2015 to 2023. The initial blood routine examination revealed decreased hemoglobin in all patients, and Contrast-enhanced computed tomography (CT) indicated retroperitoneal hematoma. After correcting shock and electrolyte imbalance through fluid therapy and medical treatment, all primary RALPN procedures were performed with transabdominal access on the side of the Hemorrhage. After tumor resection and hematoma removal with a monopolar Curved Scissor, the absorbable barbed suture was performed for inner and outer running stitches, respectively. Patient demographic information, perioperative characteristics, and functional outcomes were collected and analyzed. The initial tumor size of fourteen patients ranged from 57 to 145 mm, and the RENAL ranged from 7 to 11. All of the HSA was controlled, and primary RALPN was successful. The operating time it was ranged from 105 to 265 min. Postoperatively, one patient exhibited chylous drainage (Clavien-Dindo II), and another patient developed pleural effusion (Clavien-Dindo III). No postoperative transfusion and Digital Subtraction Angiography (DSA) highly selective embolization of the bleeding vessel was needed. No patients developed urinoma or urinary fistula. Within the follow-up period, the overall complications were manageable. Primary RALPN is a safe and effective procedure for HSA, which may be considered an alternative to selective renal artery embolization.

Angiomyolipomas (AMLs) are mesenchymal tumors that typically originate from the kidneys and contain smooth muscle cells, fat cells, and blood vessels. They are usually benign in nature but can be fatal due to complications. AMLs almost always involve the kidneys, and only a few studies have reported the possibility of extrarenal involvement as a rare entity. In this study, we examined a patient who presented to our clinic with left-sided pain and was found to have a large AML measuring approximately 15 cm in size in the left kidney. The patient underwent a simple left nephrectomy, and AML was diagnosed after histopathological examination, with intact surgical margins. During the patient’s routine 6-month follow-up visits, approximately four years after nephrectomy, a mass of approximately 13 cm was observed in the nephrectomy bed and radiologically interpreted as a recurrent AML. A tru-cut biopsy of the mass confirmed AML diagnosis. The patient was treated with selective arterial embolization, which was successful without any complications. We believe that our rare case of recurrent large AML will contribute to the diagnosis and treatment choices for patients with recurrent renal and extrarenal AML in the future and will add to the existing literature.

This article discusses a case study of a 25-year-old woman with a large renal angiomyolipoma (AML) associated with lymphangioleiomyomatosis (LAM). The patient presented with gastrointestinal symptoms and was initially misdiagnosed with leiomyosarcoma. After further evaluation, the mass was determined to be a benign AML. The patient underwent embolization followed by a partial nephrectomy, and her renal function was preserved. The article highlights the challenges in diagnosing and managing large AMLs and emphasizes the importance of regular surveillance for AMLs associated with LAM. [Extracted from the article]

Emergency endovascular and percutaneous urological interventions encompass various diagnostic and therapeutic procedures to address various genitourinary conditions. These urological interventions are life-saving in addressing complications following biopsy, post-nephrectomy, post-transplant, and post-trauma. Compared to other surgical fields, there are relatively fewer urological emergencies. However, they require prompt radiological diagnosis and urgent interventions. This pictorial essay emphasizes various urological emergencies and urgent interventional management. [ABSTRACT FROM AUTHOR]

Background: Subependymal giant cell astrocytoma is a benign brain tumor that occurs in patients with tuberous sclerosis complex. Surgical removal is the traditional treatment, and expert opinion is strongly against the use of radiotherapy. Recently, success has been reported with the mTor inhibitor everolimus in reducing tumor volume, but regrowth has been observed after dose reduction or cessation. Case report: We present the case of a 40-year-old Asian female patient treated successfully for growing bilateral subependymal giant cell astrocytoma with fractionated stereotactic radiotherapy before everolimus became available. After a follow-up of 8 years, everolimus was administered for renal angiomyolipoma and the patient was followed up until 13 years after radiotherapy. Successive magnetic resonance imaging demonstrated an 80% volume reduction after radiotherapy that increased to 90% with everolimus. A review of the literature was done leveraging Medline via PubMed, and we assembled a database of 1298 article references and 780 full-text articles in search of evidence for contraindicating radiotherapy in subependymal giant cell astrocytoma. Varying results of single-fraction radiosurgery were described in a total of 13 cases. Only in two published cases was the radiation dose of fractionated radiotherapy mentioned. One single publication mentions an induced secondary brain tumor 8 years after whole-brain radiotherapy. Conclusion: There is no evidence of contraindication and exclusion of fractionated radiotherapy in treating subependymal giant cell astrocytoma. Our experience demonstrates that subependymal giant cell astrocytoma, as other benign intracranial tumors, responds slowly but progressively to radiotherapy and suggests that fractionated stereotactic radiotherapy holds promise to consolidate responses obtained with mTor inhibitors avoiding regrowth after cessation. [ABSTRACT FROM AUTHOR]

Background: Acute spontaneous bleeding from renal angiomyolipoma (AML) is one of the causes of Wunderlich syndrome, a rare and potentially fatal clinical condition. Clinical deterioration will occur if there is a delay in urgent management. There are several management options for renal angiomyolipoma rupture. However, until now little is known about the case of recanalization from post-coil embolization of renal angiomyolipoma. There is no guideline about embolization technique for the management of recurrent bleeding after embolization or coil recanalization of renal angiomyolipoma. Case presentation: A 55-year-old male has Wunderlich syndrome caused by recurrent bleeding of giant AML of the left renal due to coil recanalization compounded by a pseudoaneurysm and other bleeding site in bilateral giant renal angiomyolipoma which is showed by contrast-enhanced abdominal computed tomography scan. The patient underwent urgent transarterial embolization and some blood transfusion. Clinical improvement occurred and the patient discharged several days later. Conclusions: Embolization for spontaneous bleeding or rebleeding of renal pseudoaneurysms may become the first choice of treatment in bilateral multiple renal angiomyolipoma rather than other managements which are available to preserve renal function. [ABSTRACT FROM AUTHOR]

Objectives: To validate the diagnostic accuracy of a stepwise algorithm to differentiate fat‐poor angiomyolipoma (fp‐AML) from renal cancer in small renal masses (SRMs). Methods: We prospectively enrolled 223 patients with solid renal masses <4 cm and no visible fat on unenhanced computed tomography (CT). Patients were assessed using an algorithm that utilized the dynamic CT and MRI findings in a stepwise manner. The diagnostic accuracy of the algorithm was evaluated in patients whose histology was confirmed through surgery or biopsy. The clinical course of the patients was further analyzed. Results: The algorithm classified 151 (68%)/42 (19%)/30 (13%) patients into low/intermediate/high AML probability groups, respectively. Pathological diagnosis was made for 183 patients, including 10 (5.5%) with fp‐AML. Of these, 135 (74%)/36 (20%)/12 (6.6%) were classified into the low/intermediate/high AML probability groups, and each group included 1 (0.7%)/3 (8.3%)/6 (50%) fp‐AMLs, respectively, leading to the area under the curve for predicting AML of 0.889. Surgery was commonly opted in the low and intermediate AML probability groups (84% and 64%, respectively) for initial management, while surveillance was selected in the high AML probability group (63%). During the 56‐month follow‐up, 36 (82%) of 44 patients initially surveyed, including 13 of 18 (72%), 6 of 7 (86%), and 17 of 19 (89%) in the low/intermediate/high AML probability groups, respectively, continued surveillance without any progression. Conclusions: This study confirmed the high diagnostic accuracy for differentiating fp‐AMLs. These findings may help in the management of patients with SRMs. [ABSTRACT FROM AUTHOR]

Renal angiomyolipoma has two histological variants: classical and epithelioid. Epithelioid angiomyolipoma is considered as a potential malignant tumor, often leading to recurrence and metastasis, with rapid progression in most of the cases. The lung is one of the most commonly reported sites of metastasis, and pulmonary metastasis of renal angiomyolipoma is usually diagnostic by computed tomography (CT) scans. Here, we report for the first time renal angiomyolipoma with lung metastasis by combining CT and magnetic resonance imaging (MRI). [ABSTRACT FROM AUTHOR]

Introduction and aim. Spontaneous renal hemorrhage, known as Wunderlich syndrome, is a rare clinical condition that occurs without any history of trauma. The most common causes of this syndrome are both benign and malignant renal tumors. The treatment strategy is determined based on the patient's hemodynamic stability. Description of the case. We report a case where a patient was admitted to the emergency department experiencing persistent pain in the right flank for three days. A diagnosis of spontaneous renal hemorrhage, secondary to an angiomyolipoma, was established through CT imaging. In this case study, we detail the diagnostic process and management of a patient who, due to the absence of hemodynamic instability, did not require surgical intervention. Instead, the patient was monitored and managed with conservative treatment. Conclusion. This case highlights the importance of prompt diagnosis, implementation of appropriate treatment, and the relevance of active follow-up in hemodynamically stable patients receiving conservative treatment. [ABSTRACT FROM AUTHOR]

Angiomyolipomas (AMLs) are mesenchymal tumors that typically originate from the kidneys and contain smooth muscle cells, fat cells, and blood vessels. They are usually benign in nature but can be fatal due to complications. AMLs almost always involve the kidneys, and only a few studies have reported the possibility of extrarenal involvement as a rare entity. In this study, we examined a patient who presented to our clinic with left-sided pain and was found to have a large AML measuring approximately 15 cm in size in the left kidney. The patient underwent a simple left nephrectomy, and AML was diagnosed after histopathological examination, with intact surgical margins. During the patient's routine 6-month follow-up visits, approximately four years after nephrectomy, a mass of approximately 13 cm was observed in the nephrectomy bed and radiologically interpreted as a recurrent AML. A tru-cut biopsy of the mass confirmed AML diagnosis. The patient was treated with selective arterial embolization, which was successful without any complications. We believe that our rare case of recurrent large AML will contribute to the diagnosis and treatment choices for patients with recurrent renal and extrarenal AML in the future and will add to the existing literature. [ABSTRACT FROM AUTHOR]

Background: Tuberous sclerosis complex (TSC) is a disorder of the mammalian target of the rapamycin (mTOR) pathway associated with the development of multisystem tumors, including renal angiomyolipoma (AML). These renal tumors are benign by nature but locally invasive and carry a risk for the progression of chronic kidney disease (CKD) to end stage kidney disease (ESKD). The frequency of subsequent renal transplantation in this population is largely uncharacterized, although single‐center data suggests that 5%–15% of adult TSC patients are kidney transplant recipients. Methods: This retrospective cohort study utilized United Network for Organ Sharing (UNOS) data. We included candidates waitlisted between 1987 and 2020 for a first kidney transplant with TSC‐associated kidney failure. We utilized descriptive statistics to characterize the frequency of first‐time kidney transplant waitlisting and transplantation among persons with TSC and the Fine‐Gray subdistribution hazard model to evaluate characteristics associated with progression from waitlist. Results: We identified 200 TSC‐associated kidney failure patients within the waitlist cohort. Of these, 12 were pediatric patients. Two‐thirds (N = 134) of waitlisted persons were female. One hundred forty patients received a transplant with a median waitlist time of 2 years. Younger age at waitlisting was associated with a greater probability of progressing to transplant (HR 0.98 [95% CI: 0.96–0.99]). 91.8% of kidney transplant recipients survived 1‐year post‐transplant with a functioning allograft. Conclusions: The majority of patients with TSC who are waitlisted for a kidney transplant progress onto transplantation with excellent 1‐year post transplant patient and allograft survival. [ABSTRACT FROM AUTHOR]

The purpose of this study is to determine the predictive factors of tuberous sclerosis complex (TSC)-associated kidney disease and its progression in children. Retrospective review of children with TSC in a tertiary children's hospital was performed. Relevant data were extracted, and Cox proportional hazards regression was used to establish predictors of kidney lesions. Logistic regression was conducted to identify factors predicting chronic kidney disease (CKD) and high-risk angiomyolipomas (above 3 cm). Kidney imaging data were available in 145 children with TSC; of these, 79% (114/145) had abnormal findings. The only significant predictive factor for cyst development was being female (HR = 0.503, 95% CI 0.264–0.956). Being female (HR = 0.505, 95% CI 0.272–0.937) and underweight (HR = 0.092, 95% CI 0.011–0.800) both lowers the risk of having angiomyolipomas, but TSC2 mutations (HR = 2.568, 95% CI 1.101–5.989) and being obese (HR = 2.555, 95%CI 1.243–5.255) increases risks. Ten (12%) of 81 children with kidney function tested demonstrate CKD stages II–V, and only angiomyolipomas above 3 cm predict CKD. Additionally, 13/145 (9%) children had high-risk angiomyolipomas, whereby current age (adjusted odds ratio (aOR) 1.015, 95% CI 1.004–1.026) and being overweight/obese (aOR 7.129, 95% CI 1.940–26.202) were significantly associated with angiomyolipomas above 3 cm. Conclusions: While gender and genotype are known predictors, this study includes the novel finding of nutritional status as a predictor of TSC-associated kidney disease. This study sheds light on a possible complex interplay of hormonal influences, obesity, and kidney angiomyolipomas growth, and further investigations focusing on the impact of nutritional status on TSC-associated kidney disease are warranted. What is Known: • Gender and genotype are well-studied predictive factors in TSC kidney disease. What is New: • Nutritional status may influence the development and the progression of kidney lesions in children with TSC and should not be overlooked. • Management guidelines of TSC-associated kidney disease can address nutritional aspects. [ABSTRACT FROM AUTHOR]

Background: Renal angiomyolipoma (RAML) is the most common kidney lesion in patients with tuberous sclerosis complex (TSC), affecting about 80% of patients. It is a benign tumor that grows over time, usually bilaterally, and can easily lead to kidney complications such as acute hemorrhage. Herein, we investigated the efficacy and safety of sirolimus in children with TSC-associated RAML and explored the factors affecting tumor disappearance under sirolimus treatment through subgroup analysis. Methods: A prospective cohort study was conducted. Sirolimus was initiated at 1 mg/(m2 × day), and dose adjustments were made by a 2-week titration period to attain a trough blood concentration of 5–10 ng/mL. The disappearance of RAML in children after sirolimus treatment was observed, and Cox regression was used to screen the factors affecting tumor disappearance. Results: One hundred and twenty-six patients who met the criteria were analyzed. After 3 months, 6 months, 12 months, and 24 months of follow-up, tumors disappeared in 18 (14.3%), 30 (23.8%), 39 (31.0%), and 42 (33.3%) children, respectively. Tumors disappeared in 50 (39.7%) children by the last visit of each individual, and 30 (60%) of them occurred within 6 months. The multivariate Cox regression analysis showed that patients with a smaller maximum tumor diameter at baseline had a higher tumor disappearance rate. Thirty-six (29%) patients had stomatitis during the entire treatment period, and no serious adverse reactions were observed. Conclusions: Sirolimus could promote the disappearance of TSC-related RAML. The disappearance rate was correlated with the maximum diameter at baseline, and the smaller the tumor was, the higher the disappearance rate. It is well tolerated in the treatment of RAML associated with TSC. -y3UuAfomqvu4rovYkw6j4 [ABSTRACT FROM AUTHOR]

Abstract Background To investigate the diagnostic efficacy of high-frame-rate contrast-enhanced ultrasound (H-CEUS) in differentiating between clear cell renal cell carcinoma (CCRCC) and angiomyolipoma (AML). Methods A retrospective study was performed on the clinical data of 79 patients diagnosed with CCRCC and 31 patients diagnosed with AML at the First Affiliated Hospital of Nanchang University between October 2022 and December 2023. Conventional ultrasound (US) and H-CEUS examinations were conducted on all patients prior to surgery, dynamic images were recorded from the US, and the qualitative and quantitative parameters of H-CEUS were collected. The t-test, χ² test and non-parametric Mann-Whitney test were employed to assess differences in clinical data, US characteristics, and qualitative and quantitative parameters of H-CEUS between the CCRCC and AML groups. The independent risk factors of CCRCC were identified using binary logistic regression. The receiver operator characteristic (ROC) curve was constructed to evaluate the diagnostic effectiveness of clinical + US and H-CEUS in differentiating between CCRCC and AML. Results The CCRCC group and the AML group exhibited significant differences in patient gender, operation mode, nodular echo, and nodule blood flow (χ²=11.698, -, -,=10.582; P

Abstract Background Renal sinus angiomyolipoma (RSAML) is a rare and typically complex renal tumor. The objective is to present our single-center experience with a modified technique of robotic nephron-sparing surgery (NSS) for treating RSAML. Methods We retrospectively evaluated 15 patients with RSAMLs who were treated with robotic NSS at the Department of Urology of Tongji hospital, ranging from November 2018 to September 2022. Renal vessels and ureter were dissected. The outer part of RSAML was resected. The rest of tumor was removed by bluntly grasp, curettage and suction. Absorbable gelatin sponges were filled in the renal sinus. The preoperative parameters, operative measures and postoperative outcomes were all collected. Follow-up was performed by ultrasonography and estimated glomerular filtration rate (eGFR). Results Robotic NSS was successfully performed in all the patients, without any conversion to open surgery or nephrectomy. The mean operation time was 134.13 ± 40.56 min. The mean warm ischemia time was 25.73 ± 3.28 min. The median estimated blood loss was 100 [50, 270] ml and 1 patient required blood transfusion. The mean drainage duration was 5.77 ± 1.98 days. The median postoperative hospital stay was 6.90 [5.80, 8.70] days. Two patients experienced postoperative urinary tract infection (Clavien-Dindo Grade II). During the median follow-up of 25.53 ± 15.28 months, patients received 91.18% renal function preservation. No local recurrence occurred in all the patients. Conclusions Robotic NSS for RSAML is a complicated procedure that demands technical expertise and a well-designed strategy is critical in the operation. Treating RSAML with modified robotic NSS is safe, effective and feasible.

Liposarcomas are infrequent malignant tumors of mesenchymal origin most commonly seen in the extremities. Although infrequent, these can develop as primary lesions in the soft tissue of the kidney, making them difficult to diagnose through imaging modalities alone. Primary renal liposarcomas are associated with poor prognoses, increasing the importance of timely and accurate diagnosis. In extremely rare instances, the tumor can arise directly from the fat in the epicenter of the kidney, disguised as an angiomyolipoma. In this article, we report the case of a 54-year-old female who was diagnosed with a well-differentiated liposarcoma of the kidney and underwent radical nephrectomy. Our objective is to evaluate unique radiological imaging findings and correlate with histopathological analysis to optimize diagnosis

Angiomyolipomas are benign renal hamartomas with - fat, smooth muscle, and abnormal blood vessel (tortuous, dysmorphic) components. The risk of hemorrhage is related to size of the tumor, presence of aneurysm, associations with tuberous sclerosis. In this case report we review the case of a 42-year-old woman presenting with acute flank pain and decreased hemoglobin, who was diagnosed with AML with right renal artery pseudo aneurysm on CT. Subsequent coil embolization of feeding vessels and using PVA particles was successfully done. Selective embolization remains a minimally invasive, attractive option, and a nephron sparing approach.

Abstract Background Lymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly based upon evidence obtained from patients with sporadic LAM. We performed a prospective audit of patients with TSC-LAM attending a national referral centre to inform management guidelines. Methods The UK LAM Centre was established in 2011 and conducts a prospective audit of pre-defined quality outcomes for all subjects. Audit data are reported on all patients with TSC-LAM and a comparator population of patients with sporadic LAM. Results Between 2011 and 2022, 73 patients were seen with TSC-LAM. All were women with a mean (SD) age of 39 (12) years. Referral rates were similar over the study period including after the introduction of CT screening. Median age of diagnosis with TSC was 11 years (range 0–70) with one third diagnosed with TSC as adults. Compared with all TSC patients in the ‘TOSCA’ registry, TSC-LAM patients tended to have been diagnosed with TSC at an older age, had fewer neuro-cognitive manifestations and were more likely to have angiomyolipoma. The most common presentations of TSC-LAM were following workup for angiomyolipoma, pneumothorax or dyspnoea with only one fifth detected after CT screening. Baseline FEV1 and DLCO at first assessment were reduced to 77 and 63% predicted respectively and were similar to patients with sporadic LAM. During follow-up, FEV1 fell by a mean of 81 ml/year and DLCO fell by 0.309 mmol/ml/kPa/year in patients not being treated with an mTOR inhibitor. 55% required treatment with either sirolimus or Everolimus for LAM or angiomyolipoma respectively. For those treated with an mTOR inhibitor, mean FEV1 fell by 3 ml/year and DLCO increased by 0.032 mmol/ml/kPa/year and was similar to sporadic LAM. Risk of death due to LAM or need for lung transplant in patients with TSC-LAM was 0.67%/year. Conclusions Despite screening recommendations, LAM is often diagnosed in TSC after symptoms develop which may delay treatment. Complications including pneumothorax and loss of lung function are significant and similar to sporadic LAM. Work is needed to implement the recommended CT screening for LAM and improve respiratory care for TSC-LAM.

Background: Renal sinus angiomyolipoma (RSAML) is a rare and typically complex renal tumor. The objective is to present our single-center experience with a modified technique of robotic nephron-sparing surgery (NSS) for treating RSAML. Methods: We retrospectively evaluated 15 patients with RSAMLs who were treated with robotic NSS at the Department of Urology of Tongji hospital, ranging from November 2018 to September 2022. Renal vessels and ureter were dissected. The outer part of RSAML was resected. The rest of tumor was removed by bluntly grasp, curettage and suction. Absorbable gelatin sponges were filled in the renal sinus. The preoperative parameters, operative measures and postoperative outcomes were all collected. Follow-up was performed by ultrasonography and estimated glomerular filtration rate (eGFR). Results: Robotic NSS was successfully performed in all the patients, without any conversion to open surgery or nephrectomy. The mean operation time was 134.13 ± 40.56 min. The mean warm ischemia time was 25.73 ± 3.28 min. The median estimated blood loss was 100 [50, 270] ml and 1 patient required blood transfusion. The mean drainage duration was 5.77 ± 1.98 days. The median postoperative hospital stay was 6.90 [5.80, 8.70] days. Two patients experienced postoperative urinary tract infection (Clavien-Dindo Grade II). During the median follow-up of 25.53 ± 15.28 months, patients received 91.18% renal function preservation. No local recurrence occurred in all the patients. Conclusions: Robotic NSS for RSAML is a complicated procedure that demands technical expertise and a well-designed strategy is critical in the operation. Treating RSAML with modified robotic NSS is safe, effective and feasible. [ABSTRACT FROM AUTHOR]

Introduction Methods Results Conclusion The purpose of this study is to evaluate the patient selection methods, treatment outcomes, complications, clinical and radiological follow‐up after renal angiomyolipoma (AML) treatment with selective arterial embolization (SAE) in an Australian metropolitan tertiary centre.This study presents a retrospective single‐centre review of patients' medical records who underwent SAE for renal AML during the period of 1st January 2012 and 1st January 2023.A total of 32 SAE procedures for renal AML occurred during the study period. Three episodes were classified as emergency cases [9.38%] and the remaining 29 were treated electively. Mean AML size pre‐treatment was 69.45 mm (range = 33–177; SD = 31.69). All AMLs demonstrated hyper‐vascularity on contrast‐enhanced cross‐sectional imaging (arterial‐phase enhancement characteristics and/or prominent tortuous feeding vessels) [n = 32; 100%] or an intralesional aneurysm or pseudoaneurysm [n = 12; 42.85%]. Periprocedural complications [n = 3; 9.38%] included: one intralesional haemorrhage after embolization, one vascular access site complication, and one lipiduria‐associated urinary tract infection. No patients suffered a life‐threatening complication, non‐target embolization, deterioration in renal function or death following SAE. Re‐treatment with SAE was performed in only three patients [10.71%]. Hospital mean length of stay was 1.58 days. Median durations of clinical and radiological follow‐up post‐treatment were 493 days (range = 104–1645) and 501 days (range = 35–1774), respectively. Follow‐up imaging revealed AML total size reduction in all cases [mean = −17.17 mm; −26.51%] and 50% had obliteration of lesion hyper‐vascularity after one episode of SAE. Outpatient clinical follow‐up signifies that none of the patients included in the study have re‐presented with lesion haemorrhage after successful SAE.In this study, renal AMLs were treated safely with a high degree of success by using SAE, and there were very low rates of periprocedural complications. Follow‐up of patients after SAE treatment of renal AML should include both radiological (assessment for reduction in lesion vascularity and size) and clinical review in an outpatient clinic setting (either by an interventional radiologist or urologist). [ABSTRACT FROM AUTHOR]

Introduction. Angiomyolipoma (AML) is a mesenchymal neoplasm that belongs to the perivascular epithelioid cell tumor family (PEComa). AMLs can be subtyped into several patterns dependent on cell type, morphology, and tissue composition. One of the patterns, oncocytoma-like AML is a rare entity with only three cases published in the literature. Case presentation. We present a case of a previously healthy 29-year-old woman who underwent a left partial nephrectomy secondary to a 4.6 cm heterogeneous renal neoplasm. Gross examination demonstrated a well-circumscribed renal mass. Modified Giemsa stain preparation showed oncocytic cells in syncytial pattern with ample granular cytoplasm and round nuclei with prominent nucleoli. Histology assessment showed an oncocytic neoplasm with interspersed adipose tissue. The tumor exhibited tubular architecture with the tubules lined by eosinophilic epithelioid cells with nuclear atypia and prominent nucleoli. Thick blood vessels with emanating epithelioid cells were present. High-grade histology features were not identified. The tumor cells were positive for HMB-45 and SMA and negative for PAX8, keratins, KIT, and vimentin. A diagnosis of oncocytoma-like AML was rendered. Next-generation sequencing (NGS) and RNA fusion were performed. NGS revealed no pathogenic variants and RNA fusion identified no rearrangements. Chromosomal copy number alterations were present in the long arm of chromosome 1 (1p) and chromosome 22. Conclusions. We describe and discuss the clinical, cytomorphologic, histologic, and molecular findings of oncocytoma-like AML, a rare renal neoplasm, and provide a review of the literature. [ABSTRACT FROM AUTHOR]

Birt–Hogg–Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterized by benign cutaneous lesions, lung cysts, and increased risk of spontaneous pneumothorax and renal cancer. We report a case of a young Indian boy with bilateral pneumothorax as the first symptom of BHDS. Detailed history examination and investigation showed multiple facial lesions; his computerized tomography was suggestive of renal angiomyolipoma, hepatic angiomyolipoma, pulmonary cyst with pneumothorax, and small bilateral subependymal soft tissue density lesion with calcification in the brain, all of which were collectively suggestive of BHDS. Identification of the above commonly presented clinical features as a syndrome is important for even a primary care physician so as to ensure the timely management and if required referral to a higher center. [ABSTRACT FROM AUTHOR]

Copyright of Türk Radyoloji Seminerleri is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Türk Radyoloji Seminerleri is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Rare disease Background: Wünderlich syndrome (WS) is a rare diagnosis of nontraumatic spontaneous renal hemorrhage into the subcapsular, perirenal, or pararenal spaces. Prompt and effective intervention is necessary for an accurate pathological diagnosis and preservation of life. In the current literature, open surgery is the primary option when conservative treatment fails, but there can be serious trauma and corresponding consequences. Herein, we present 3 cases of Wünderlich syndrome managed by robot-assisted laparoscopic nephrectomy via a retroperitoneal approach. Case Reports: Patient 1 was a 44-year-old woman with right flank pain for 6 h. Patient 2 was a 53-year-old woman with a history of diabetes who had pain in her right flank pain and nausea for 1 day. Patient 3 was a 45-year-old man with left flank pain for 1 day. All cases of WS were confirmed by CT. All 3 patients were treated with retroperitoneal robot-assisted nephrectomy after conservative treatment failed. Pathological examination confirmed that patient 1 had angiomyolipoma, and patients 2 and 3 had renal clear cell carcinoma. At the 9-month follow-up, renal function was good and no evidence of recurrence or metastasis has been detected. Conclusions: These cases have highlighted the importance of the clinical history and imaging findings in the diagnosis of Wünderlich syndrome, and show that rapid management can be achieved using robot-assisted laparoscopic nephrectomy. However, it is crucial to have a skilled surgical team and adequate preoperative preparation. [ABSTRACT FROM AUTHOR]

Benign renal lesions are relatively rare. Angiomyolipoma (AML) is the most commonly encountered benign renal lesion. One of the complications of AML is rupture, which results in retroperitoneal haemorrhage with a mortality rate of up to 20%. Pregnancy poses a major risk for the rupture of AML. This is attributed to its hormonal effect, which causes the tumour to grow rapidly during pregnancy. The possibility of AML rupture should be considered when encountering pregnant patients with hypovolemic shock but with normal initial obstetric ultrasound findings. We present a case of a pregnant patient who was admitted with hypovolemic shock and CT scan confirmed rupture of AML. [ABSTRACT FROM AUTHOR]

Background: Angiomyolipoma with epithelial cysts (AMLEC) is an extremely rare subtype of kidney angiomyolipoma that contains epithelial-lined cysts. The most distinctive immunohistochemical feature of AMLEC is its immunoreactivity with melanocytic markers. AMLEC also has a distinct histological structure, which aids in its pathological diagnosis. To date 27 cases of AMLEC have been reported in 11 case series. However, the molecular biology underlying the pathogenesis of AMLEC remains unexplored. Case report: A 30-year-old female was diagnosed with AMLEC and underwent partial nephrectomy. Histologically, the cross-section of cystic tissue revealed a multilocular appearance, with some cysts containing thrombus-like material, and the wall thickness was approximately 0.2 ~ 0.3 cm. Additionally, the compact subepithelial cellular stroma showed strong and diffuse nuclear labeling for estrogen receptor, progesterone receptor, and CD10, as well as HMB45 and Melan A, which are markers of melanocytic differentiation. Furthermore, using a DNA targeted sequencing panel with next-generation sequencing, we identified a nonsense mutation in TSC Complex Subunit 2 (TSC2) gene, resulting in the formation of a premature termination codon. Moreover, the mutated genes found to be enriched in the PI3K-AKT pathway. The patient in this case had a favorable postoperative follow-up at 3 months. Conclusion: To the best of our knowledge, this study represents the first analysis of genotype mutations in AMLEC, providing valuable insights for future clinical practice. These findings have significant potential in guiding the understanding and management of AMLEC, paving the way for further research and advancements in the field. [ABSTRACT FROM AUTHOR]

The case study highlights the possibility of pharmacological therapy with everolimus for patients with extensive kidney angiomyolipomatosis, which poses a serious risk of bleeding to the patients. [ABSTRACT FROM AUTHOR]

OBJECTIVE: The objective of this article is to present astronomical inspired signs seen in radiology, which will eventually help in imaging based diagnosis. STUDY DESIGN: Retrospective study. PLACE AND DURATION OF STUDY: Radiology Department, Shifa International Hospital, from 2020 to 2023. METHODOLOGY: We compiled all the cases with interesting astronomical signs manifested on various radiological modalities including radiograph, ultrasound and CT. - Comet tail artifact seen on grey scale ultrasound is noted in gallbladder adenomyomatosis & thyroid colloid cyst. - Comet tail artifact seen on colour doppler ultrasound is noted in renal/ureteric calculus. - Comet tail sign seen on CT chest is noted in round atelectasis. - Galaxy sign seen on CT chest is noted in sarcoidosis or pulmonary TB. - Loss of half-moon sign seen on shoulder radiograph is noted in posterior shoulder dislocation. - Starry sky appearence seen on grey scale ultrasound is noted in acute hepatitis. - Starry sky appearance seen on MR is noted in multiple biliray hamartomas. - Suburst appearance seen on radiograph is noted in osteosarcoma. - Sunburst sign seen on MR brain is noted in meningioma. - Sunburst sign seen on DSA is noted in renal angiomyolipoma. - Sunset eye sign seen on CT brain in obstructive hydrocephalus. - Twinkling artifact seen on colour Doppler ultrasound is noted in calcului. - Earth heart sign seen on radiograph chest is noted in tension pneumomediastinum. - Milky sign seen on MR brain is noted in multifocal leukoencephalopathy. - Starfield pattern seen on MR brain is noted in fat embolism. RESULT: Imaging features in various modalities of aforementioned diseases are explained narrowing down the differentials. CONCLUSION: Understanding of these clearly discernible astronomy-based signs is crucial since it aids in cutting down the lengthy range of differentials and also aids in imaging-based diagnosis. [ABSTRACT FROM AUTHOR]

To analyze and compare the intraoperative and post-operative outcomes of "on-clamp" laparoscopic partial nephrectomy (LPN) with "preoperative super-selective angioembolization" before LPN. This randomized clinical study was conducted at Gauhati Medical College Hospital, Guwahati, India, between November 2021 and November 2023. Adult patients of either gender diagnosed with T1 renal tumors were included in the study. All patients underwent diethylenetriamine pentaacetate scan preoperatively and at 1-month follow-up. The patients were randomized using a parallel group design with an allocation ratio of 1:1 to receive either preoperative angioembolization followed by LPN or conventional "on-clamp" LPN. Demographic and baseline parameters were recorded along with pre- and post-operative data. There was no significant difference between the two groups in terms of age (P = 0.11), gender distribution (P = 0.32), body mass index (P = 0.43), preoperative hemoglobin (P = 0.34), and preoperative estimated glomerular filtration rate (eGFR; P = 0.64). One patient in the embolization group required radical nephrectomy because of accidental backflow of glue into the renal artery during embolization whereas four patients required clamping due to inadequate embolization. Preoperative super-selective embolization yielded significantly less blood loss, compared to "on-clamp" LPN (145 [50.76 mL] vs. 261 [66.12 mL], P < 0.01). There was no significant difference between post-operative eGFR (at 1 month) between the two groups (P = 0.71). Preoperative embolization offers improved outcomes in the dissection plane, total operative time, and blood loss, compared to conventional "on-clamp" LPN but has no significant effect on change in eGFR. [ABSTRACT FROM AUTHOR]

Copyright of Revista Cientifica de la Facultade de Veterinaria is the property of Universidad del Zulia, Facultad de Ciencias Veterinarias and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)