A giant renal angiomyolipoma: a rare case report and review of literature

Renal angiomyolipomas (AMLs) are the most common benign tumours of the kidney that occur sporadically in 80% of the patients and are seen associated with genetic conditions such as tuberous sclerosis in rest of the patients. The diagnosis of renal AML pre-operatively have been made easier with the advent of good imaging modalities. The management of these tumours depends on factors such as size, clinical presentation, extent of parenchymal involvement and ranges from a wait and watch strategy to a radical nephrectomy. Herewith, we reported of a giant renal AML who presented with complaints of lump in abdomen with headache and palpitations. She was diagnosed to have a giant renal AML on imaging. The patient was managed with radical nephrectomy after renal AML. A brief case report with review literature was presented here.

Management of adult tuberous sclerosis complex-related angiomyolipoma: A single-center experience

Introduction: Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disease. A significant cause of TSC-related morbidity is potential bleeding from renal angiomyolipoma (AML). To pre-emptively decrease AML bleeding, mTOR inhibitors can be used; however, thresholds for initiating and maintaining everolimus therapy remain uncertain. Recent literature suggests not triggering active treatment of AMLs based on size thresholds alone. We evaluated the appropriateness of initiating everolimus therapy in asymptomatic patients after considering AML size, rate of growth, and other factors. Methods: Diagnostic criteria developed by the 2012 International TSC Consensus Group and presence of AML were used as inclusion criteria. Medical and imaging reports of 20 TSC patients from a single center were reviewed. Results: Mean age was 40.55 (±16.27) and 11 patients were female. Eight asymptomatic patients at high risk for complications underwent everolimus therapy, of which seven (88%) demonstrated decreased AML size but multiple side effects were reported. Four high-risk asymptomatic patients did not undergo therapy due to side effect concerns, while four low-risk asymptomatic patients had stable AMLs under active surveillance. Four patients had reduced AMLs through local therapy. Conclusions: Everolimus treatment was effective for managing AML size in most high-risk asymptomatic patients with tolerable side effects. AML size can remain relatively stable for asymptomatic low-risk patients despite not receiving intervention(s). Patients with TSC-related AML can be safely managed with mTOR inhibitors like everolimus, with shared decision-making including factors such as bleeding risk, AML growth rate, and number and absolute size of AMLs.

Low-Dose Everolimus Maintenance Therapy for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex

Objective: To assess the safety and efficacy of low-dose everolimus maintenance therapy for tuberous sclerosis complex-related renal angiomyolipoma (TSC-RAML) patients that had previously undergone standard-dose treatment for a minimum of 6 months.Materials and Methods: In total, 24 patients with a definitive TSC diagnosis were enrolled from April 2018 – April 2019 at Xiangya Hospital, Central South University. All patients underwent low-dose everolimus maintenance therapy following standard-dose everolimus induction therapy for a minimum of 6 months. Patients additionally underwent TSC1/TSC2 genetic testing, And they were followed-up at 3, 6, 12, 18, and 24 months. The Response Evaluation Criteria in Solid Tumors (RECIST, version 1.1) criteria were used to monitor patient RAML responses, while adverse events (AEs) were assessed as per the National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE, version 4.0). P < 0.05 was the significance level for all analyses, which were performed using SPSS 19.0.Results: TSC1/TSC2 gene mutations were present in all 24 patients, all of whom achieved a significant reduction in TSC-RAML volume within the initial 6-month induction therapy period, and exhibited volume stabilization during the low-dose maintenance therapy treatment period without any instances of TSC-RAML regrowth. Adverse events (AEs) were significantly less severe and less frequent over the course of maintenance therapy relative to standard therapy.Conclusions: Low-dose everolimus maintenance therapy represents an effective approach to achieving TSC-RAML control following a minimum of 6 months of full-dose induction therapy, and may be associated with decreases in everolimus-related AE frequency and severity.

Giant Renal Angiomyolipoma by the Example of Clinical Cases

The paper presents two clinical cases of patients with giant renal angiomyolipomas (AML), in one of whom its course was complicated by intratumoral hemorrhage. It describes key diagnostic criteria for computed tomography (CT), as well as the distinctive features of other neoplasms that should undergo a differential diagnosis. The similar clinical presentations and morphological characteristics of different renal neoplasms can cause certain diagnostic difficulties; however, the carefully collected historical data and distinctive criteria allow AML to be identified. Due to its high sensitivity and specificity, abdominal contrast-enhanced CT is an effective imaging technique in the detection and differential diagnosis of giant renal AML.

Deep Learning Plus Three-Dimensional Printing in the Management of Giant (>15 cm) Sporadic Renal Angiomyolipoma: An Initial Report

ObjectiveTo evaluate the feasibility and effectivity of deep learning (DL) plus three-dimensional (3D) printing in the management of giant sporadic renal angiomyolipoma (RAML).MethodsThe medical records of patients with giant (>15 cm) RAML were retrospectively reviewed from January 2011 to December 2020. 3D visualized and printed kidney models were performed by DL algorithms and 3D printing technology, respectively. Patient demographics and intra- and postoperative outcomes were compared between those with 3D-assisted surgery (3D group) or routine ones (control group).ResultsAmong 372 sporadic RAML patients, 31 with giant ones were eligible for analysis. The median age was 40.6 (18–70) years old, and the median tumor size was 18.2 (15–28) cm. Seventeen of 31 (54.8%) had a surgical kidney removal. Overall, 11 underwent 3D-assisted surgeries and 20 underwent routine ones. A significant higher success rate of partial nephrectomy (PN) was noted in the 3D group (72.7% vs. 30.0%). Patients in the 3D group presented a lower reduction in renal function but experienced a longer operation time, a greater estimated blood loss, and a higher postoperative morbidity. Subgroup analysis was conducted between patients undergoing PN with or without 3D assistance. Despite no significant difference, patients with 3D-assisted PN had a slightly larger tumor size and higher nephrectomy score, possibly contributing to a relatively higher rate of complications. However, 3D-assisted PN lead to a shorter warm ischemia time and a lower renal function loss without significant difference. Another subgroup analysis between patients under 3D-assisted PN or 3D-assisted RN showed no statistically significant difference. However, the nearness of tumor to the second branch of renal artery was relatively shorter in 3D-assisted PN subgroup than that in 3D-assisted RN subgroup, and the difference between them was close to significant.Conclusions3D visualized and printed kidney models appear to be additional tools to assist operational management and avoid a high rate of kidney removal for giant sporadic RAMLs.