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BJUI Compass Jan 2022To study safety and efficacy of selective endovascular trans-arterial embolization (TAE) of renal angiomyolipoma (AML) in a 10-year period at a regional tertiary...
OBJECTIVES
To study safety and efficacy of selective endovascular trans-arterial embolization (TAE) of renal angiomyolipoma (AML) in a 10-year period at a regional tertiary referral center in Denmark.
PATIENTS AND METHODS
All 56 patients who underwent TAE of renal AML at Departments of Urology and Radiology, Copenhagen University Hospital - Rigshospitalet, Denmark, from 2009 to 2020 were included. Seven without preoperative and postoperative imaging were excluded, leaving 49 patients for analysis. From national electronic medical records, we retrieved patient characteristics, surgical data, and follow-up data. Tumor size at the time of embolization and during follow-up was compared using Student's paired test. Estimated glomerular filtration rate (eGFR) pre- and post-embolization were compared using Wilcoxon rank sum test.
RESULTS
We included 49 patients of whom 4 had two tumors treated in the same TAE procedure. Median age was 50 years (interquartile range [IQR]: [29-67 years]), and the median follow-up time was 4.6 years [IQR: 3.0-6.7 years]. Post-embolization syndrome (PES) was experienced in 27 patients, and non-PES in 5 patients. Median length of hospital stay was 0 days [IQR, 0-1]. Postoperative Everolimus immunosuppressive treatment was offered to seven patients. Median tumor size was 6.0 cm [IQR: 4.6-7.9 cm] and was significantly reduced to 3.7 cm [IQR: 2.5-5.2 cm] after treatment ( < 0.001). Kidney function was not affected by TAE. Three deaths, not related to AML, were noted during follow-up.
CONCLUSION
Embolization of AML was in this cohort effective to significantly reduce tumor size without serious adverse events and loss of renal function. TAE is a safe and efficacious treatment and the preferred minimally invasive treatment option of AML.
PubMed: 35475158
DOI: 10.1002/bco2.107 -
QJM : Monthly Journal of the... Oct 2023
Topics: Humans; Tuberous Sclerosis; Lymphangioleiomyomatosis; Angiomyolipoma; Lung Neoplasms
PubMed: 37286375
DOI: 10.1093/qjmed/hcad125 -
Clinical Journal of the American... Jul 2017Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple organs, especially the kidneys,... (Review)
Review
Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple organs, especially the kidneys, brain, heart, lungs, and skin. Tuberous sclerosis complex is usually caused by a mutation in either the or gene, resulting in constitutive activation of mammalian target of rapamycin signaling. Currently, mammalian target of rapamycin inhibitors are recommended in adult patients with tuberous sclerosis complex for the treatment of asymptomatic, growing renal angiomyolipoma that are >3 cm in diameter and pediatric or adult patients with brain lesions (subependymal giant cell astrocytoma) that either are growing or are not amenable to surgical resection. Clinical evidence suggests that systemic administration of a mammalian target of rapamycin inhibitor may provide concurrent improvements in multiple lesions and symptoms of tuberous sclerosis complex. With the major paradigm shift in consensus guidelines toward screening at diagnosis and ongoing monitoring and with the recent availability of an effective oral treatment, it is important that nephrologists have a thorough understanding of our role in the management of patients with tuberous sclerosis complex. Because the various manifestations of tuberous sclerosis complex typically emerge at different periods during patients' lifetimes, patients will need to be followed throughout their lives. Unlike brain and cardiac lesions, renal lesions are more likely to emerge as patients age and can grow at any time. Considerations regarding long-term medication administration for the potential control of multiple tuberous sclerosis complex manifestations will need to be addressed; these include the most appropriate starting dose, appropriate doses for tumor shrinkage versus prevention of regrowth, and management of adverse events. Best practices and potential obstacles for nephrologists treating patients with tuberous sclerosis complex who have multiple manifestations are considered.
Topics: Angiomyolipoma; Antineoplastic Agents; Embolization, Therapeutic; Humans; Kidney Neoplasms; Molecular Targeted Therapy; Mutation; Nephrectomy; Protein Kinase Inhibitors; TOR Serine-Threonine Kinases; Treatment Outcome; Tuberous Sclerosis; Tuberous Sclerosis Complex 1 Protein; Tuberous Sclerosis Complex 2 Protein; Tumor Burden; Tumor Suppressor Proteins
PubMed: 28302901
DOI: 10.2215/CJN.08150816 -
Orphanet Journal of Rare Diseases Jul 2022To explore the relationship between the genotype and renal phenotype in a Chinese cohort and guide clinical decision-making for treating tuberous sclerosis complex (TSC). (Review)
Review
PURPOSE
To explore the relationship between the genotype and renal phenotype in a Chinese cohort and guide clinical decision-making for treating tuberous sclerosis complex (TSC).
MATERIALS AND METHODS
We reviewed 173 patients with definite TSC at three centers in China from September 2014 to September 2020. All the patients underwent TSC1 and TSC2 genetic testing as well as renal phenotypic evaluation. All analyses were performed using the SPSS software, version 19.0, with a cut-off P value of 0.05 considered statistically significant.
RESULTS
We identified variants in 93% (161/173) cases, including 16% TSC1 and 77% TSC2 variants. Analysis of the relationship between the genotype and renal phenotype, revealed that those with TSC2 variants were more likely to develop severe renal AML (> 4) (P = 0.044). In terms of treatment, TSC2 variants were more likely to undergo nephrectomy/partial nephrectomy (P = 0.036) and receive mTOR medication such as everolimus (P < 0.001). However, there was no significant difference between the two groups in terms of their response to the everolimus treatment.
CONCLUSION
Patients with TSC2 variants exhibit more severe renal phenotypes, especially those associated with renal angiomyolipomas (AML), and they often require nephrectomy/partial nephrectomy or mTOR medication. Detection of the genotype is helpful in TSC management.
Topics: Angiomyolipoma; Everolimus; Genotype; Humans; Kidney Neoplasms; Leukemia, Myeloid, Acute; Mutation; Phenotype; TOR Serine-Threonine Kinases; Tuberous Sclerosis; Tuberous Sclerosis Complex 1 Protein; Tuberous Sclerosis Complex 2 Protein
PubMed: 35870981
DOI: 10.1186/s13023-022-02443-1 -
Ear, Nose, & Throat Journal Aug 2022Angiomyolipoma is an extremely rare, benign mesenchymal tumor of the nasal cavity, primarily common in the kidney and secondarily common in the liver. According to the...
Angiomyolipoma is an extremely rare, benign mesenchymal tumor of the nasal cavity, primarily common in the kidney and secondarily common in the liver. According to the author's knowledge, no cases of angiomyolipoma of the nasal septum have been identified to date. We report a case of a patient with a giant angiomyolipoma at the posterior end of the nasal septum who recovered after surgery without any complication.
PubMed: 35929576
DOI: 10.1177/01455613221107735 -
Frontiers in Pediatrics 2021Experimental data indicate that activating mutations in the mTOR (mammalian target of rapamycin) pathway may lead to abnormal arterial wall structure. Vascular...
Experimental data indicate that activating mutations in the mTOR (mammalian target of rapamycin) pathway may lead to abnormal arterial wall structure. Vascular anomalies like arterial stenoses are reported in pediatric patients with tuberous sclerosis complex (TSC). In addition, large renal lesions (angiomyolipoma-AML and cysts) are risk factors for arterial hypertension in adult patients with TSC. This study aimed to assess blood pressure, including central blood pressure and arterial damage (early vascular aging-EVA) in children with TSC. In a group of 33 pediatric patients with TSC (11.13 ± 4.03 years, 15 boys, 18 girls), we evaluated peripheral and central office blood pressure, 24-h ambulatory blood pressure, and arterial damage: aortic pulse wave velocity (aPWV) [m/s], [score], augmentation index (AIx75HR [%]), common carotid artery intima-media thickness (cIMT) [mm], [score], stiffness of common carotid artery (E-tracking), renal lesions in magnetic resonance and ultrasonography, and selected biochemical parameters. The control group consisted of 33 healthy children (11.23 ± 3.28 years, 15 boys, 18 girls). In TSC group 7 (21.2%) children had arterial hypertension, 27 (81.8%) children had renal angiomyolipomas, 26 (78.8%)-renal cysts, and 4 (12.1%) patients were treated with mTOR inhibitors (2 patients with everolimus and 2 patients with sirolimus) at the moment of evaluation. Children with TSC had higher central systolic blood pressure (AoSBP) (98.63 ± 9.65 vs. 90.45 ± 6.87 [mm Hg], < 0.001), cIMT (0.42 ± 0.05 vs. 0.39 ± 0.03 [mm], = 0.011), cIMT score (0.81 ± 1.21 vs. 0.16 ± 0.57, = 0.007), aPWV (4.78 ± 0.81 vs. 4.25 ± 0.56 [m/s], = 0.003) and aPWV score (-0.14 ± 1.15 vs. -0.96 ± 0.87, = 0.002) compared to healthy children, without differences in AIx75HR (8.71 ± 15.90 vs. 5.24 ± 11.12 [%], = 0.319) and stiffness of common carotid artery. In children with TSC AoSBP correlated positively with serum cystatin C concentration ( = 0.377, = 0.030) and with maximum diameter of renal cyst ( = 0.419, = 0.033); mean arterial pressure (MAP) 24 h score correlated with serum cystatin C concentration ( = 0.433, = 0.013); and aPWV score with daily urinary albumin loss [mg/24 h] ( = 0.412, = 0.029). Children with tuberous sclerosis complex are at risk of elevated central blood pressure and early vascular aging. In children with TSC, blood pressure and arterial stiffness are related to renal involvement.
PubMed: 34912759
DOI: 10.3389/fped.2021.767394 -
Turkish Journal of Urology Feb 2021Renal angiomyolipomas (R-AMLs) are rare benign tumors, which occur sporadically and in association with genetic conditions such as tuberous sclerosis complex (TSC) and... (Review)
Review
Renal angiomyolipomas (R-AMLs) are rare benign tumors, which occur sporadically and in association with genetic conditions such as tuberous sclerosis complex (TSC) and lymphangioleiomyomatosis (LAM). The key clinical concern is life-threatening hemorrhage. There is uncertainty about the optimal management strategy for patients with R-AMLs. We aim to review the evidence and provide a protocolled approach for the management of R-AMLs. A literature search of R-AML was conducted using MEDLINE and EMBASE for articles published between January 1990 and March 2020. Patient with TSC and sporadic cases were included. Treatment strategies, including active surveillance, surgery, selective arterial embolization (SAE), ablation, and systemic therapies, were reviewed. Outcomes from contemporary case series of active surveillance, surgery, and SAE were collated. There were no randomized controlled trials on this topic. The retrospective case series reviewed showed that many R-AMLs can be managed safely with active surveillance. Tumor size is the most important predictor of bleeding, and other factors such as rate of growth, women of child-bearing age, aneurysm size, and symptoms should be considered when deciding on prophylactic treatment. There is limited evidence for the traditional 4-cm cutoff for treatment, which may lead to overtreatment. The primary intervention options are SAE and surgery; whereas SAE is a less invasive option, nephron sparing surgery offers a lower risk of recurrence. Both appear to have similar morbidity, and the current evidence does not recommend one over the other in most cases. Thermal ablation has promising results but has only been trialed in small case series. Patients with TSC can be offered mammalian target of rapamycin inhibitors of which everolimus appears to cause the greatest shrinkage of tumors with an acceptable side-effect profile. R-AMLs should be assessed for their risk of bleeding. Low-risk tumors should be treated with active surveillance. High-risk tumors should be treated with SAE or surgery. Systemic treatments are the first-line of treatment for patients with TSC to preserve renal parenchyma.
PubMed: 32966208
DOI: 10.5152/tud.2020.20343 -
BMC Pediatrics Jun 2023To investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time. (Observational Study)
Observational Study
AIM
To investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time.
METHODS
In this retrospective observational study, 52 individuals aged up to 18 years at the study start were followed-up at regional hospitals and centres for habilitation from 2000 to 2020.
RESULTS
Cardiac rhabdomyoma was detected prenatally/neonatally in 69.2% of the subjects born during the latest ten years of the study period. Epilepsy was diagnosed in 82.7% of subjects, and 10 (19%) were treated with everolimus, mainly (80%) for a neurological indication. Renal cysts were detected in 53%, angiomyolipomas in 47%, astrocytic hamartomas in 28% of the individuals. There was a paucity of standardized follow-up of cardiac, renal, and ophthalmological manifestations and no structured transition to adult care.
CONCLUSION
Our in-depth analysis shows a clear shift towards an earlier diagnosis of tuberous sclerosis complex in the latter part of the study period, where more than 60% of cases showed evidence of this condition already in utero due to the presence of a cardiac rhabdomyoma. This allows for preventive treatment of epilepsy with vigabatrin and early intervention with everolimus for potential mitigation of other symptoms of tuberous sclerosis complex.
Topics: Adult; Child; Humans; Aged; Tuberous Sclerosis; Everolimus; Rhabdomyoma; Sweden; Early Intervention, Educational; Heart Neoplasms
PubMed: 37386496
DOI: 10.1186/s12887-023-04137-4 -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Dec 2022Renal angiomyolipoma (AML) with renal vein, inferior vena cava (IVC), and right atrial embolism is a rare solid tumor, whose etiology and pathogenesis are still unclear.... (Review)
Review
Renal angiomyolipoma (AML) with renal vein, inferior vena cava (IVC), and right atrial embolism is a rare solid tumor, whose etiology and pathogenesis are still unclear. Moreover, it is often misdiagnosed. One patient with renal AML complicated with renal vein, IVC, and right atrial embolism was admitted to the Second Xiangya Hospital of Central South University, who was a 35-year-old female, without any previous medical history, presented with right low back pain for more than 3 years. Computed tomography (CT) scan showed irregular lobulated fatty density mass in the right kidney, renal vein, IVC, and right atrium. The contrast-enhanced scan showed no enhancement of fat components at each phase and mild enhancement of solid components. Radical resection of the right kidney and removal of tumor thrombus were performed, and there was no recurrence 1 year after the operation. It is rare for renal AML to grow along the renal vein, IVC, and extend to the right atrium. Imaging examination is extremely important, and the CT findings of this case are characteristic, but the diagnosis eventually depends on pathological and immunohistochemical examinations.
Topics: Female; Humans; Adult; Vena Cava, Inferior; Angiomyolipoma; Atrial Fibrillation; Kidney Neoplasms; Embolism; Heart Atria; Leukemia, Myeloid, Acute
PubMed: 36748389
DOI: 10.11817/j.issn.1672-7347.2022.220044 -
Nigerian Journal of Clinical Practice Oct 2022Renal angiomyolipoma is the commonest benign solid kidney neoplasm though rare in clinical practice. The advent of radiological imaging techniques, refinement in...
BACKGROUND
Renal angiomyolipoma is the commonest benign solid kidney neoplasm though rare in clinical practice. The advent of radiological imaging techniques, refinement in surgical approach and techniques and availability of mammalian target of rapamycin have improved the outcome in these cohort of patients.
AIM
To report our experience with the surgical management of renal angiomyolipoma in the sub-Saharan Africa.
PATIENTS AND METHODS
This was a retrospective review of the records in the operating theatre book of urology division of patients who underwent radical nephrectomy over a 7-year-period (January 2013 to December 2019). The histologically confirmed renal angiomyolipoma information were retrieved from the records in the Department of Pathology. The clinical data were obtained from the patients' case files by identifying the patient with their registration number and not their names. The clinical features, investigations done, treatment offered, and the outcome of management were recorded in an SPSS version 20. The data was analyzed using statistics of central tendency and percentage.
RESULTS
Only 3 females with symptomatic renal angiomyolipoma were managed. This represented 4.9% of 61 patients with solid renal masses managed in the study period. The mean age was 51.2 (ranged 40-70) years. The mean tumor size was 18.9 cm. All the patients underwent radical nephrectomy. The pre- and postoperative urea and creatinine remained normal. The median follow-up period was 21 (16.5-30) months and were asymptomatic.
CONCLUSION
The incidence of renal angiomyolipoma among solid renal masses is 4.9% in our environment. Open radical nephrectomy is still the preferred method of treatment with satisfactory outcome.
Topics: Female; Humans; Adult; Middle Aged; Aged; Angiomyolipoma; Kidney Neoplasms; Nigeria; Nephrectomy; Retrospective Studies; Hamartoma
PubMed: 36308230
DOI: 10.4103/njcp.njcp_63_21