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Gowda GG, Tigga MP, Sreenath RH. Management of Renal Angiomyolipomas in Tuberous Sclerosis: A Case Series. Vasc Specialist Int 2024; 40:40. [PMID: 39675888 DOI: 10.5758/vsi.240039] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/16/2024] [Revised: 06/30/2024] [Accepted: 07/22/2024] [Indexed: 12/17/2024] Open
Abstract
Renal angiomyolipomas, benign tumors composed of blood vessels, adipose tissue, and smooth muscle, affect approximately 70% to 80% of patients with tuberous sclerosis. Angiomyolipomas smaller than 4 cm are usually asymptomatic, whereas larger ones can cause lumbar pain, anemia, and hematuria. Contrary to its sporadic counterparts, tuberous sclerosis-associated angiomyolipomas often present at a young age, are multicentric and large, and carry a higher risk of life-threatening hemorrhage. Therapeutic strategies include selective tumor embolization, nephrectomy for severe cases, and medical treatment such as everolimus. Despite a correlation between tuberous sclerosis and renal angiomyolipomas and their described high complication rates in literature, disease awareness in clinical practice remains low. This case series describes the management and outcomes of three patients with tuberous sclerosis-associated renal angiomyolipomas treated with selective arterial embolization.
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Affiliation(s)
- Ganesh G Gowda
- Department of Vascular Surgery, JSS Academy of Higher Education and Research, Mysuru, India
| | - Maureen Prativa Tigga
- Department of Obstetrics and Gynecology, JSS Academy of Higher Education and Research, Mysuru, India
| | - Rashmi Hosahalli Sreenath
- Department of Obstetrics and Gynecology, JSS Academy of Higher Education and Research, Mysuru, India
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2
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Tang W, Yang D, Wu T, Liang G. Delayed bilateral spontaneous renal rupture after surgery for unilateral upper ureteral calculi: a case report. Front Med (Lausanne) 2023; 10:1173386. [PMID: 37869167 PMCID: PMC10587595 DOI: 10.3389/fmed.2023.1173386] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/24/2023] [Accepted: 09/18/2023] [Indexed: 10/24/2023] Open
Abstract
Spontaneous renal rupture is a rare clinical condition characterized by spontaneous bleeding in the renal subcapsular and perinephric spaces in patients without a history of trauma. It occurs mainly in pathologic kidneys and after some renal surgeries. We report a 40-year-old male patient admitted with a diagnosis of gallstones with cholecystitis due to fever and abdominal pain after unilateral ureteral calculi. The patient developed delayed right renal rupture hemorrhage during treatment, controlled after selective arterial embolization (SAE). Still, the patient developed spontaneous left renal rupture due to a systemic inflammatory response. Finally, the patient's life was saved after several selective embolizations of the renal artery. We retrospectively analyzed this case to improve our understanding of the disease.
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Affiliation(s)
| | | | - Tao Wu
- Department of Urology, The Affiliated Hospital of Zunyi Medical University, Zunyi, China
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3
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Endovascular Interventional Radiology of the Urogenital Tract. ACTA ACUST UNITED AC 2021; 57:medicina57030278. [PMID: 33802895 PMCID: PMC8002831 DOI: 10.3390/medicina57030278] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2021] [Revised: 03/13/2021] [Accepted: 03/15/2021] [Indexed: 12/26/2022]
Abstract
Interventional radiology of the male urogenital system includes percutaneous and endovascular procedures, and these last consist mostly of transcatheter arterial embolizations. At the kidney level, arterial embolizations are performed mainly for palliative treatment of parenchymal tumors, for renal traumas and, less frequently, for arteriovenous fistulas and renal aneurysms and pseudoaneurysms. These latter may often require emergency intervention as they can cause renal or peri-renal hematomas or significant hematuria. Transcatheter arterial embolization is also an effective therapy for intractable severe bladder hematuria secondary to a number of neoplastic and inflammatory conditions in the pelvis, including unresectable bladder cancer and radiation-induced or cyclophosphamide-induced hemorrhagic cystitis. Endovascular interventional procedures for the penis are indicated for the treatment of post-traumatic priapism. In this article, we review the main endovascular radiological interventions of the male urogenital system, describing the technical aspects, results, and complications of each procedure at the various anatomical districts.
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Vaggers S, Rice P, Somani BK, Veeratterapillay R, Rai BP. Evidence-based protocol-led management of renal angiomyolipoma: A review of literature. Turk J Urol 2021; 47:S9-S18. [PMID: 32966208 PMCID: PMC8057360 DOI: 10.5152/tud.2020.20343] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/22/2020] [Accepted: 07/30/2020] [Indexed: 11/22/2022]
Abstract
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.
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Affiliation(s)
- Sophie Vaggers
- Urological Surgery Department, University Hospital Southampton NHS Trust, Southampton, UK
| | - Patrick Rice
- Urological Surgery Department, University Hospital Southampton NHS Trust, Southampton, UK
| | - Bhaskar K. Somani
- Urological Surgery Department, University Hospital Southampton NHS Trust, Southampton, UK
| | - Rajan Veeratterapillay
- Department of Urology, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK
| | - Bhavan P. Rai
- Department of Urology, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK
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5
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Bausch K, Wetterauer C, Diethelm J, Ebbing J, Boll DT, Dill P, Rentsch CA, Seifert HH. Enhancing disease awareness for tuberous sclerosis complex in patients with radiologic diagnosis of renal angiomyolipoma: an observational study. BMC Nephrol 2021; 22:47. [PMID: 33517888 PMCID: PMC7849137 DOI: 10.1186/s12882-021-02253-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/14/2020] [Accepted: 01/21/2021] [Indexed: 11/23/2022] Open
Abstract
Background Tuberous Sclerosis Complex (TSC) is a genetic disorder, with renal manifestations like angiomyolipoma (AML) occurring in 70–80% of patients. AML usually cause more complications in TCS patients than in non-TSC patients. However, AML patients are not routinely investigated for TSC. Our aim was to retrospectively assess the correlation between radiologically diagnosed AML and TSC. Methods All patients were stratified into AML related vs. unrelated to TSC. Correlations were calculated to determine the association between age, AML, and TSC. Results Complete data were available for 521 patients with renal AML, in 7 of which the concurrent diagnosis of TSC was found. Younger age significantly positively correlated with the prevalence of TSC in AML patients (p < 0.01). 37 (7%) of the 521 patients were within the age-range of 18–40 years, in which TSC occurred in 6 cases, 4 (66.7%) of which presented with multiple, bilateral renal AML (p < 0.05), and 2 (33.3%) of which with a single, unilateral AML (p < 0.05). In patients with AML but without TSC, unilateral AML was found in 83.9% and bilateral AML in 16.1% (p < 0.05). Simple binary logistic regression analysis revealed bilateral AML (OR 33.0; 95% CI 3.2–344.0; p = 0.003) (but not unilateral AML (OR 0.09; 95% CI 0.01–0.88; p = 0.04)) to be a risk factor for TSC. Conclusions The presence of bilateral AML in patients within the age-range of 18–40 years should raise suspicion for TSC as the underlying cause. Therefore, our advice is to refer patients with multiple bilateral renal AML for further investigations regarding TSC.
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Affiliation(s)
- Kathrin Bausch
- Department of Urology, University Hospital Basel, Spitalstrasse 21, CH-4031, Basel, Switzerland. .,University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland.
| | - Christian Wetterauer
- Department of Urology, University Hospital Basel, Spitalstrasse 21, CH-4031, Basel, Switzerland.,University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland
| | - Julian Diethelm
- University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland
| | - Jan Ebbing
- Department of Urology, University Hospital Basel, Spitalstrasse 21, CH-4031, Basel, Switzerland.,University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland
| | - Daniel T Boll
- University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland.,Department of Radiology, University Hospital Basel, Petersgraben 4, CH-4031, Basel, Switzerland
| | - Patricia Dill
- University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland.,Division of Pediatric Neurology and Developmental Medicine, University Childrens' Hospital Basel, Spitalstrasse 33, CH-4056, Basel, Switzerland
| | - Cyrill A Rentsch
- Department of Urology, University Hospital Basel, Spitalstrasse 21, CH-4031, Basel, Switzerland.,University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland
| | - Hans-H Seifert
- Department of Urology, University Hospital Basel, Spitalstrasse 21, CH-4031, Basel, Switzerland.,University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland
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Kumar GA, Prasad PVS, Kumar AR, Sindhuri A, Babu BSRP. Giant renal angiomyolipoma managed by selective renal angioembolization: A unique case report. JOURNAL OF THE SCIENTIFIC SOCIETY 2020. [DOI: 10.4103/jss.jss_27_20] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
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Lin L, Li X, Guan H, Wang J, Tong X, Yang M, Zou Y. Renal function, complications, and outcomes of a reduction in tumor size after transarterial embolization for renal angiomyolipomas: a meta-analysis. J Int Med Res 2019; 47:1417-1428. [PMID: 30898061 PMCID: PMC6460598 DOI: 10.1177/0300060519834447] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/05/2018] [Accepted: 02/07/2019] [Indexed: 12/28/2022] Open
Abstract
OBJECTIVE The present study aimed to evaluate renal function, complications, and changes in tumor size after transarterial embolization for patients with renal angiomyolipomas. METHODS We performed a meta-analysis of transarterial embolization in patients with renal angiomyolipomas from January 1994 to April 2018. Endpoints of interest were the estimated glomerular filtration rate, serum creatinine levels, blood urea nitrogen levels, complications, and reduction of tumors. RESULTS A total of 30 studies comprising 653 patients were included. A total of 32.0% of patients were treated by urgent transarterial embolization for spontaneous ruptured renal angiomyolipomas. Other patients sought to relieve symptoms or received embolism prophylactically. The estimated glomerular filtration rate showed no significant difference between before and after embolization. In 363 patients with data on complications, post-embolization syndrome occurred most frequently (54.0%). Only 16 (4.4%) patients had major complications. The diameter of sporadic angiomyolipomas was reduced by a mean of 2.09 cm (95% confidence interval [CI], 0.73-3.45 cm; I2 = 29.3%) and they were reduced in size by 30.0% (95% CI, 16.0%-44.0%; I2 = 27.9%). CONCLUSIONS Transarterial embolization of renal angiomyolipomas affects renal function preservation, with a low complication rate. Transarterial embolization is useful for sporadic and tuberous sclerosis complex-related angiomyolipomas.
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Affiliation(s)
| | | | - Haitao Guan
- Department of Interventional Radiology and Vascular Surgery, Peking University First Hospital, Beijing, P.R. China
| | - Jian Wang
- Department of Interventional Radiology and Vascular Surgery, Peking University First Hospital, Beijing, P.R. China
| | - Xiaoqiang Tong
- Department of Interventional Radiology and Vascular Surgery, Peking University First Hospital, Beijing, P.R. China
| | - Min Yang
- Department of Interventional Radiology and Vascular Surgery, Peking University First Hospital, Beijing, P.R. China
| | - Yinghua Zou
- Department of Interventional Radiology and Vascular Surgery, Peking University First Hospital, Beijing, P.R. China
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Volpi A, Sala G, Lesma E, Labriola F, Righetti M, Alfano RM, Cozzolino M. Tuberous sclerosis complex: new insights into clinical and therapeutic approach. J Nephrol 2018; 32:355-363. [PMID: 30406604 DOI: 10.1007/s40620-018-0547-6] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/24/2018] [Accepted: 10/10/2018] [Indexed: 02/07/2023]
Abstract
Tuberous sclerosis complex (TSC) is a complex disease with many different clinical manifestations. Despite the common opinion that TSC is a rare condition, with a mean incidence of 1/6000 live births and a prevalence of 1/20,000, it is increasingly evident that in reality this is not true. Its clinical sequelae span a range of multiple organ systems, in particular the central nervous system, kidneys, skin and lungs. The management of TSC patients is heavily burdensome in terms of time and healthcare costs both for the families and for the healthcare system. Management options include conservative approaches, surgery, pharmacotherapy with mammalian target of rapamycin inhibitors and recently proposed options such as therapy with anti-EGFR antibody and ultrasound-guided percutaneous microwaves. So far, however, no systematically accepted strategy has been found that is both clinically and economically efficient. Thus, decisions are tailored to patients' characteristics, resource availability and clinical and technical expertise of each single center. This paper reviews the pathophysiology and the clinical (diagnostic-therapeutic) management of TSC.
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Affiliation(s)
- Angela Volpi
- Laboratory of Experimental Nephrology, Renal Division, Dipartimento di Scienze della Salute, San Paolo Hospital, Università di Milano, Via A. di Rudinì, 8, 20142, Milan, Italy
| | - Gabriele Sala
- Laboratory of Experimental Nephrology, Renal Division, Dipartimento di Scienze della Salute, San Paolo Hospital, Università di Milano, Via A. di Rudinì, 8, 20142, Milan, Italy
| | - Elena Lesma
- Clinical Pharmacology Unit, San Paolo Hospital, Milan, Italy
| | | | | | | | - Mario Cozzolino
- Laboratory of Experimental Nephrology, Renal Division, Dipartimento di Scienze della Salute, San Paolo Hospital, Università di Milano, Via A. di Rudinì, 8, 20142, Milan, Italy.
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9
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Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma. Curr Urol Rep 2018; 19:82. [DOI: 10.1007/s11934-018-0829-5] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
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Effect of everolimus treatment for regrown renal angiomyolipoma associated with tuberous sclerosis complex after transcatheter arterial embolization. Int J Clin Oncol 2018; 23:1134-1139. [PMID: 30069798 DOI: 10.1007/s10147-018-1325-0] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2018] [Accepted: 07/28/2018] [Indexed: 10/28/2022]
Abstract
BACKGROUND The aim of this study was to evaluate the effects and the utility of second-line everolimus treatment for regrown renal angiomyolipoma (AML) with tuberous sclerosis complex (TSC) after transcatheter arterial embolization (TAE). METHODS We investigated a total of 14 patients who underwent second-line everolimus treatment for TSC-AML that regrew after TAE, and assessed their effects and adverse events. Everolimus treatment was performed for AML with a maximum diameter of 4 cm. To determine the reduction ratio of AML, the volume of AML was measured using multislice helical computed tomography. Adverse events were evaluated according to CTCAE v4.0-JCOG. We further compared the treatment effect and adverse events with those in patients receiving first-line everolimus treatment. RESULTS The AML volume decreased in all patients, with a ≥ 50% volume decrease in 57% (8 of 14) of the cases, and the mean reduction rate was 53%. We observed no significant difference in the mean reduction rate of AML between second-line everolimus treatment for regrown TSC-AML after TAE and first-line everolimus treatment for TSC-AML. The adverse events were mild and consistent with those reported in our previous study. CONCLUSION Although further studies are needed, everolimus appears to be effective as second-line treatment for TSC-AML that regrew after TAE and a beneficial treatment option for TSC-AML.
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Liu L, Wu R, Xia Y, Wang J, Xiong Y, Qu Y, Long Q, Sun L, Guo J. A preliminary study on classification and therapeutic strategies for spontaneous perirenal hemorrhage. Int J Surg 2018; 54:86-91. [DOI: 10.1016/j.ijsu.2018.04.029] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/07/2017] [Revised: 02/10/2018] [Accepted: 04/02/2018] [Indexed: 10/17/2022]
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Abstract
BACKGROUND Renal angiomyolipoma (AML) is a common benign tumor of the kidney. The main complication of AML is retroperitoneal hemorrhage caused by AML rupture, which can be severe and life threatening. The risk of AML rupture used to be determined by tumor size. However, these criteria have been challenged by series of clinical studies and case reports, suggesting prediction AML rupture based on tumor size is not always reliable. METHODS The authors searched PubMed using "angiomyolipoma," "AML," and "rupture" and reviewed relevant studies. The authors investigated the risk factors of AML rupture using the retrieved literature. The authors also summarized current modalities to evaluate and manage AML. RESULTS It is established that risk of AML rupture is associated with lesion size. However, genetic abnormality, aneurysm formation, and pregnancy are also risk factors for tumor rupture. Thus, the prediction of AML rupture should be based on a more comprehensive risk assessment system. The management of renal AML and tumor rupture was also discussed in the present paper. CONCLUSION The risk of AML rupture is associated with but not exclusive to lesion size. Any decision to intervene AML must be based on multiple factors including risk, symptoms, and auxiliary findings.
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Affiliation(s)
- Chenyang Wang
- Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, Guangdong
| | - Xinyuan Li
- Department of Urology, Chongqing Medical University First Affiliated Hospital, Chongqing, China
| | - Linglong Peng
- Department of Urology, Chongqing Medical University First Affiliated Hospital, Chongqing, China
| | - Xin Gou
- Department of Urology, Chongqing Medical University First Affiliated Hospital, Chongqing, China
| | - Jing Fan
- Department of Urology, Chongqing Medical University First Affiliated Hospital, Chongqing, China
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Dawoud MM, Salama AA, El-Diasty TA, Alhefnawy M. Diagnostic accuracy of computed tomography angiography in detection of post traumatic renal vascular injury. THE EGYPTIAN JOURNAL OF RADIOLOGY AND NUCLEAR MEDICINE 2018. [DOI: 10.1016/j.ejrnm.2017.10.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/17/2022] Open
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Ramaswamy RS, Akinwande O, Tiwari T. Renal Embolization: Current Recommendations and Rationale for Clinical Practice. Curr Urol Rep 2018; 19:5. [DOI: 10.1007/s11934-018-0756-5] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/18/2022]
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Murray TE, Lee MJ. Are We Overtreating Renal Angiomyolipoma: A Review of the Literature and Assessment of Contemporary Management and Follow-Up Strategies. Cardiovasc Intervent Radiol 2017; 41:525-536. [PMID: 29260305 DOI: 10.1007/s00270-017-1862-3] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/30/2017] [Accepted: 12/14/2017] [Indexed: 12/13/2022]
Abstract
Renal angiomyolipoma (AML) are benign tumours composed of fat, muscle, and disorganised blood vessels. Historic treatment algorithms for sporadic AML based on size fail to consider additional risk factors such as tumour vascularity and pseudoaneurysm formation. As AML is now predominantly incidental, rupture is rare and its mortality low. The recent publication of the largest longitudinal series to date also suggest that growth is uncommon, challenging existing surveillance paradigms. The evidence assessing treatment strategies in AML are reviewed, with particular emphasis on incidental sporadic AML. The relative merits of various AML treatments are discussed, and areas of clinical uncertainty highlighted.
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Affiliation(s)
| | - Michael J Lee
- Department of Radiology, Beaumont Hospital, Dublin, Ireland. .,Royal College of Surgeons in Ireland, Dublin, Ireland.
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Jeong A, Wong M. mTOR Inhibitors in Children: Current Indications and Future Directions in Neurology. Curr Neurol Neurosci Rep 2017; 16:102. [PMID: 27815691 DOI: 10.1007/s11910-016-0708-8] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/26/2022]
Abstract
The mammalian/mechanistic target of rapamycin (mTOR) pathway is a key signaling pathway that has been implicated in genetic epilepsy syndromes, neurodegenerative diseases, and conditions associated with autism spectrum disorder and cognitive impairment. The mTOR pathway has become an exciting treatment target for these various disorders, with mTOR inhibitors such as rapamycin being studied for their potential therapeutic applications. In particular, tuberous sclerosis complex (TSC) is a genetic disorder resulting from overactivation of the mTOR pathway, and pharmacologic therapy with mTOR inhibitors has emerged as a viable treatment option for the systemic manifestations of the disease. In this review, we discuss the approved indications for mTOR inhibitors in TSC, the potential future applications of mTOR inhibitors in TSC and other neurological conditions, and the safety considerations applicable to mTOR therapy in the pediatric population.
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Affiliation(s)
- Anna Jeong
- Department of Neurology and the Hope Center for Neurological Disorders, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA
| | - Michael Wong
- Department of Neurology and the Hope Center for Neurological Disorders, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
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Bardin F, Chevallier O, Bertaut A, Delorme E, Moulin M, Pottecher P, Di Marco L, Gehin S, Mourey E, Cormier L, Mousson C, Midulla M, Loffroy R. Selective arterial embolization of symptomatic and asymptomatic renal angiomyolipomas: a retrospective study of safety, outcomes and tumor size reduction. Quant Imaging Med Surg 2017; 7:8-23. [PMID: 28275556 DOI: 10.21037/qims.2017.01.02] [Citation(s) in RCA: 32] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
BACKGROUND Angiomyolipoma (AML) is the most common renal benign tumor. Treatment should be considered for symptomatic patients or for those at risk for complications, especially retroperitoneal bleeding which is correlated to tumor size, grade of the angiogenic component and to the presence of tuberous sclerosis complex (TSC). This study reports our single-center experience with the use of selective arterial embolization (SAE) in the management of symptomatic and asymptomatic renal AMLs. METHODS In this retrospective mono-centric study, all demographic and imaging data, medical records, angiographic features, outpatient charts and follow-up visits of patients who underwent prophylactic or emergency SAE for AMLs between January 2005 and July 2016 were reviewed. Tumor size and treatment outcomes were assessed at baseline and after the procedure during follow-up. Computed tomography (CT), magnetic resonance imaging (MRI) or ultrasonography was used to evaluate AML shrinkage. Renal function was measured pre- and post-procedure. RESULTS Twenty-three patients (18 females, 5 males; median age, 45 years; range, 19-85 years) who underwent SAE either to treat bleeding AML (n=6) or as a prophylactic treatment (n=17) were included. Overall, 34 AMLs were embolized. TSC status was confirmed for 6 patients. Immediate technical success rate was 96% and 4 patients benefitted from an additional procedure. Major complications occurred in 3 patients and minor post-embolization syndrome (PES) in 14 patients. The mean AML size reduction rate was 26.2% after a mean follow-up was 20.5 months (range, 0.5-56 months), and only non-TSC status was significantly associated with better shrinkage of tumor (P=0.022). Intralesional aneurysms were significantly more frequent in patients with hemorrhagic presentation (P=0.008). There was no change in mean creatinine level after SAE. CONCLUSIONS SAE is a safe and effective technique to manage renal AMLs as a preventive treatment as well as in emergency setting, with significant reduction in tumor size during follow-up. A multidisciplinary approach remains fundamental, especially for TSC patients. In addition to size, the presence of intralesional aneurysms should be considered in any prophylactic treatment decision.
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Affiliation(s)
- Florian Bardin
- Department of Vascular and Interventional Radiology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France
| | - Olivier Chevallier
- Department of Vascular and Interventional Radiology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France
| | - Aurélie Bertaut
- Department of Epidemiology and Biostatistics, Georges François Leclerc Center, Dijon, France
| | - Emmanuel Delorme
- Department of Urology, Sainte Marie Private Hospital, Chalon-sur-Saône, France
| | - Morgan Moulin
- Department of Urology and Andrology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France
| | - Pierre Pottecher
- Department of Vascular and Interventional Radiology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France
| | - Lucy Di Marco
- Department of Vascular and Interventional Radiology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France
| | - Sophie Gehin
- Department of Vascular and Interventional Radiology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France
| | - Eric Mourey
- Department of Urology and Andrology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France
| | - Luc Cormier
- Department of Urology and Andrology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France
| | - Christiane Mousson
- Department of Nephrology and Renal Transplantation, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France
| | - Marco Midulla
- Department of Vascular and Interventional Radiology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France
| | - Romaric Loffroy
- Department of Vascular and Interventional Radiology, François-Mitterrand Teaching Hospital, University of Dijon School of Medicine, Dijon, France;; LE2I UMR CNRS 6306, Arts et Métiers, University of Bourgogne Franche-Comté, Dijon, France
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Ao L, Ogasahara E, Okuda Y, Hirata S. Spontaneous rupture of renal angiomyolipoma during pregnancy. BMJ Case Rep 2017; 2017:bcr-2016-217284. [PMID: 28062422 DOI: 10.1136/bcr-2016-217284] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/16/2023] Open
Abstract
A renal angiomyolipoma (AML) is a rare benign tumour of kidney origin. Pregnancy is known to be associated with an increased risk of tumour rupture causing hypovolaemic shock, which is usually managed surgically or through an embolisation procedure. However, having surgery during pregnancy predisposes the mother to a preterm delivery, and the unknown influences of radiation exposure to the fetus make the management of such cases very challenging. A 30-year-old pregnant woman had a sudden onset of gross haematuria at the 20th week of her pregnancy. The MRI showed a 10 cm mass suggestive of AML in the left kidney, with evidence of an intrarenal haematoma. To avoid an iatrogenic preterm delivery and unnecessary fetal exposure to radiation, conservative management was conducted until 34 weeks of gestation, when she came to our hospital reporting of flank pain. An endovascular treatment was performed immediately after an emergency caesarean delivery.
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Affiliation(s)
- Li Ao
- Department of Obstetrics and Gynecology, University of Yamanashi, Chuo, Yamanashi, Japan
| | - Eriko Ogasahara
- Department of Obstetrics and Gynecology, University of Yamanashi, Chuo, Yamanashi, Japan
| | - Yasuhiko Okuda
- Department of Obstetrics and Gynecology, University of Yamanashi, Chuo, Yamanashi, Japan
| | - Shuji Hirata
- Department of Obstetrics and Gynecology, University of Yamanashi, Chuo, Yamanashi, Japan
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Laguna MP. Re: Natural History of Renal Angiomyolipoma (AML): Most Patients with Large AMLs >4cm can be Offered Active Surveillance as an Initial Management Strategy. J Urol 2016; 196:1397-1398. [DOI: 10.1016/j.juro.2016.08.045] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 08/11/2016] [Indexed: 11/30/2022]
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Duan XH, Zhang MF, Ren JZ, Han XW, Chen PF, Zhang K, Jia ZL. Urgent transcatheter arterial embolization for the treatment of ruptured renal angiomyolipoma with spontaneous hemorrhage. Acta Radiol 2016; 57:1360-1365. [PMID: 26133195 DOI: 10.1177/0284185115588125] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
Background The rich neovascularization of renal angiomyolipoma (AML) has a tendency for spontaneous rupture with subsequent hemorrhage. Nephrectomy or nephron-sparing surgery has rarely been used as a primary treatment in urgent situations. Purpose To evaluate the safety and long-term outcomes for patients treated by urgent transcatheter arterial embolization (TAE) for spontaneous ruptured renal AML with severe hemorrhage. Material and Methods A retrospective evaluation was performed of 25 renal AML cases with spontaneous hemorrhage confirmed by imaging. Polyvinyl alcohol (PVA) particles and coils of multiple sizes were used to embolize the spontaneous renal AML ruptures. Results The technical success rate of TAE was 96% (24/25). One week post-TAE, 1 patient with recurrent hemorrhage underwent emergency nephrectomy. Minor complications affected 16 patients with post-embolization syndrome; 15 patients resolved using conservative measures and one patient received nephrectomy post TAE 1 week later. All patients were followed up for 24-72 months (median, 50.2 months). Surgical treatment was avoided for 92% (23/25) of patients, and the re-embolization rate was 0% at 2 years post TAE. In the 23 patients without surgical treatment, the mean maximum diameter of renal AML was reduced from 12.4 ± 5.5 cm to 6.3 ± 2.5 cm and no hemorrhage occurred during follow-up. Conclusion Urgent TAE is a technically feasible and minimally invasive procedure for controlling severe hemorrhage and preservation of renal function following spontaneous ruptured renal AML.
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Affiliation(s)
- Xu-Hua Duan
- Department of Interventional Radiology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China
| | - Meng-Fan Zhang
- Department of Interventional Radiology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China
| | - Jian-Zhuang Ren
- Department of Interventional Radiology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China
| | - Xin-Wei Han
- Department of Interventional Radiology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China
| | - Peng-Fei Chen
- Department of Interventional Radiology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China
| | - Kai Zhang
- Department of Interventional Radiology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China
| | - Zi-Ling Jia
- Department of Interventional Radiology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China
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Sheth RA, Feldman AS, Paul E, Thiele EA, Walker TG. Sporadic versus Tuberous Sclerosis Complex–Associated Angiomyolipomas: Predictors for Long-Term Outcomes following Transcatheter Embolization. J Vasc Interv Radiol 2016; 27:1542-9. [DOI: 10.1016/j.jvir.2016.05.029] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/25/2016] [Revised: 05/21/2016] [Accepted: 05/21/2016] [Indexed: 01/08/2023] Open
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Seyam R, Khudair WA, Kattan SA, Al Otaibi MF, Skaff F, AlTaweel WM. The impact of renal angiomyolipoma on estimated glomerular filtration rate in patients with tuberous sclerosis complex. Ann Saudi Med 2016; 36:356-363. [PMID: 27710989 PMCID: PMC6074316 DOI: 10.5144/0256-4947.2016.356] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/23/2022] Open
Abstract
BACKGROUND There is a growing concern that renal impairment may develop in patients with renal angiomyolipomas (AMLs) associated with tuberous sclerosis complex (TSC) as a consequence of the disease itself and/or the interventions to mitigate the risk of hemorrhage. OBJECTIVE To assess the estimated glomerular filtration rate (eGFR) in patients with bilateral renal AMLs and the impact of tumor burden and intervention on renal function. DESIGN Retrospective study. SETTING Urology department of a tertiary care hospital. PATIENTS AND METHODS All adult patients (>=18 years of age) with TSC-associated renal AMLs seen from October 1998 to June 2015. We included only patients with bilateral tumors or solitary kidneys at the last follow-up. MAIN OUTCOME MEASURES The eGFR, renal volume, and number and type of interventions. RESULTS We identified 12 patients (median age 27.6, interquartile range 23.7-39.9 years), a median follow-up period of 1266 days (33-3133), and a median renal size of 454.7 mL (interquartile range 344.7-1016.9 on the right side; 558.1 mL, interquartile range 253.7-1001.4 on the left). In 11 (91.7%) patients, the eGFR was > 60 mL/min/1.77 m2. Six patients had three total nephrectomies, one had a contralateral partial nephrectomy, and seven had selective arterial embolizations. Intervention was associated with a significantly reduced eGFR. The renal size did not correlate with the eGFR. CONCLUSIONS TSC-associated renal AMLs may attain a large size but normal renal function is maintained in 92% of patients. Interventions to mitigate the risk of hemorrhage are associated with decreased renal function. LIMITATIONS The renal size was used as a surrogate for tumor size. Other limitations were the limited number of patients and lack of split renal function testing.
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Affiliation(s)
- Raouf Seyam
- Prof. Raouf Seyam, Department of Urology,, King Faisal Specialist Hospital and Research Centre,, Riyadh, Saudi Arabia, T: +966114424302,, F: +966114424301, , ORCID: http://orcid.org/0000-0002-9908-9839
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Ramaswamy RS, Darcy MD. Arterial Embolization for the Treatment of Renal Masses and Traumatic Renal Injuries. Tech Vasc Interv Radiol 2016; 19:203-10. [DOI: 10.1053/j.tvir.2016.06.005] [Citation(s) in RCA: 21] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
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Bissler JJ, Kingswood JC. Optimal treatment of tuberous sclerosis complex associated renal angiomyolipomata: a systematic review. Ther Adv Urol 2016; 8:279-290. [PMID: 27928430 PMCID: PMC5131738 DOI: 10.1177/1756287216641353] [Citation(s) in RCA: 34] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
Renal angiomyolipomata associated with tuberous sclerosis complex are often bilateral, multiple and progressive. They cause significant morbidity and mortality in older children and adults. Surveillance and pre-emptive treatment reduce this risk. Recent research suggests treatment with mammalian target of rapamycin inhibitors is better at preventing bleeding, recurrence, and preserving renal function than percutaneous embolization.
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Affiliation(s)
- John J. Bissler
- FedEx Chair of Excellence, Director, Tuberous Sclerosis Center of Excellence, Director, Division of Nephrology at St. Jude Children’s Research Hospital and LeBonheur Children’s Hospital, University of Tennessee Health Science Center, Professor of Pediatrics, 51 North Dunlap Street, Memphis, TN 38103, USA
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Sheth RA, Feldman AS, Paul E, Thiele EA, Walker TG. Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis. World J Radiol 2016; 8:308-315. [PMID: 27027863 PMCID: PMC4807340 DOI: 10.4329/wjr.v8.i3.308] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/29/2015] [Revised: 11/26/2015] [Accepted: 01/11/2016] [Indexed: 02/06/2023] Open
Abstract
AIM: To investigate the angiographic and volumetric effects of mammalian target of rapamycin (mTOR) inhibitors on angiomyolipomas (AMLs) in a case series of patients with tuberous sclerosis complex.
METHODS: All patients who underwent catheter angiography prior to and following mTOR inhibitor therapy (n = 3) were evaluated. All cross-sectional imaging studies were analyzed with three-dimensional volumetrics, and tumor volume curves for all three tissue compartments (soft tissue, vascular, and fat) were generated. Segmentation analysis tools were used to automatically create a region of interest (ROI) circumscribing the AML. On magnetic resonance images, the “fat only” map calculated from the in- and opposed-phase gradient recalled echo sequences was used to quantify fat volume within tumors. Tumor vascularity was measured by applying a thresholding tool within the ROI on post-contrast subtraction images. On computed tomography images, volume histogram analysis of Hounsfield unit was performed to quantify tumor tissue composition. The angiography procedures were also reviewed, and tumor vascularity based on pre-embolization angiography was characterized in a semi-quantitative manner.
RESULTS: Patient 1 presented at the age of 15 with a 6.8 cm right lower pole AML and a 4.0 cm right upper pole AML. Embolization was performed of both tumors, and after a few years of size control, the tumors began to grow, and the patient was initiated on mTOR inhibitor therapy. There was an immediate reduction in the size of both lesions. The patient then underwent repeat embolization and discontinuation of mTOR inhibition, after which point there was a substantial regrowth in both tumors across all tissue compartments. Patient 2 presented at the age of 18 with a right renal AML. Following a brief period of tumor reduction after embolization, she was initiated on mTOR inhibitor therapy, with successful reduction in tumor size across all tissue compartments. As with patient 1, however, there was immediate rebound growth following discontinuation of inhibitor therapy, without sustained control despite repeat embolization. patient 3 presented at the age of 5 with a left renal AML and underwent two embolization procedures without lasting effect prior to starting mTOR inhibition. As with patients 1 and 2, following discontinuation of therapy, there was immediate rebound growth of the tumor. Repeat embolization, however, was notable for a substantial reduction in intratumoral aneurysms and vascularity.
CONCLUSION: AML volume reduction as well as post-treatment rebound growth due to mTOR inhibitors involves all three tissue components of the tumor.
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Natural History of Renal Angiomyolipoma (AML): Most Patients with Large AMLs >4cm Can Be Offered Active Surveillance as an Initial Management Strategy. Eur Urol 2016; 70:85-90. [PMID: 26873836 DOI: 10.1016/j.eururo.2016.01.048] [Citation(s) in RCA: 95] [Impact Index Per Article: 10.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/23/2015] [Accepted: 01/26/2016] [Indexed: 01/29/2023]
Abstract
BACKGROUND The natural history of renal angiomyolipoma (AML) is unknown. Treatment recommendations are based on smaller case series, with selection bias towards symptomatic patients. OBJECTIVE To define the natural history of renal AML, including growth rates, size, and clinical presentation. DESIGN, SETTING, AND PARTICIPANTS We used a unique radiology data-mining system (Montage; Montage Healthcare Systems, Philadelphia, PA, USA) to retrospectively review the radiology database in an academic health centre between 2002 and 2013 to identify all renal AMLs. Of 2741 patients identified, 447 with 582 AMLs had three or more imaging studies suitable for analysis. INTERVENTION Angioembolisation, surgery, radiofrequency ablation, and mammalian target of rapamycin inhibitors. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS The primary end point was the growth rate of untreated AMLs. We used a linear mixed-effects model to determine change in growth rate over time. We evaluated the association among growth rate, size, and patient factors as well as interventions. RESULTS AND LIMITATIONS The majority of untreated AMLs (>92%) had not grown at a median follow-up of 43 mo, with no difference in growth rates between AMLs ≤4 and >4cm. Most AMLs occurred in female participants (80%) and were asymptomatic (91%). Tuberous sclerosis complex (TSC) was confirmed in 3.8% (n=17) and presented at an earlier age. Median size was 1cm but was significantly larger for TSC (5.5cm; p<0.001). Interventions were performed in 5.6% of patients. Limitations of our study include the retrospective design, selection against fat-poor AMLs, and lack of histology. CONCLUSIONS This large, single-institution series on AMLs confirms that lesions >4cm do not require early intervention based on size alone. The vast majority are sporadic, asymptomatic, and initially harmless, with a negligible growth rate. Our findings support a policy of initial active surveillance for all asymptomatic AMLs. PATIENT SUMMARY We evaluated the natural history and growth rates of renal AMLs. We found no difference in growth rates between AMLs >4 and ≤4cm. Initial AS appears to be a safe management option.
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Nonn A, Kirschner S, Figueiredo G, Kramer M, Nikoubashman O, Pjontek R, Wiesmann M, Brockmann MA. Feasibility, Safety, and Efficacy of Flow-Diverting Stent-Assisted Microsphere Embolization of Fusiform and Sidewall Aneurysms. Neurosurgery 2016; 77:126-35; discussion 135-6. [PMID: 25714517 DOI: 10.1227/neu.0000000000000687] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/19/2022] Open
Abstract
BACKGROUND Treatment of wide-necked internal carotid artery aneurysms is frequently associated with incomplete occlusion and high recurrence rates. Furthermore, platinum coils cause strong beam-hardening artifacts, hampering subsequent image analyses. OBJECTIVE To assess the feasibility, safety, and efficacy of flow-diverting, stent-assisted microsphere embolization of fusiform and sidewall aneurysms in vitro and in vivo. METHODS Using a recirculating pulsatile in vitro flow model, 5 different aneurysm geometries (inner/outer curve, narrow/wide neck, and fusiform) were treated (each n = 1) by flow-diverting stent (FDS) implantation and subsequent embolization through a jailed microcatheter using calibrated microspheres (500-900 μm) larger than the pores of the FDS mesh. Treatment effects were analyzed angiographically and by micro computed tomography. The fluid of the in vitro model was filtered to ensure that no microspheres evaded the aneurysm. The experiment was repeated once in vivo. RESULTS In vitro, all 5 aneurysms were safely and completely occluded by FDS-assisted microsphere embolization. Virtually complete aneurysm occlusion was confirmed by angiography and micro computed tomography. No microspheres escaped into the circulation. The experiment was successfully repeated in 1 pig with a sidewall aneurysm generated by vessel occlusion. An embolic protection system placed distally of the FDS in vitro and in vivo (each n = 1) contained no microspheres after the embolization. Thus, no microspheres were lost in the circulation, and the use of an embolic protection system seems feasible to provide additional safety. CONCLUSION FDS-assisted microsphere embolization of fusiform and sidewall aneurysms is feasible and yields virtually complete aneurysm occlusion while avoiding coil-associated beam-hardening artifacts.
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Affiliation(s)
- Andrea Nonn
- *University Hospital of the RWTH Aachen, Department of Diagnostic and Interventional Neuroradiology, Aachen, Germany; ‡University of Heidelberg, Medical Faculty Mannheim, Department of Neuroradiology, Mannheim, Germany; §Department of Veterinary Clinical Sciences, Small Animal Clinic, Justus-Liebig-University, Giessen, Germany
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Omodon M, Ayuba G, Patel IJ. Review of renal artery embolization for treatment of renal angiomyolipoma. ACTA ACUST UNITED AC 2016. [DOI: 10.7243/2054-7161-3-1] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
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Kuusk T, Biancari F, Lane B, Tobert C, Campbell S, Rimon U, D'Andrea V, Mehik A, Vaarala MH. Treatment of renal angiomyolipoma: pooled analysis of individual patient data. BMC Urol 2015; 15:123. [PMID: 26710923 PMCID: PMC4693425 DOI: 10.1186/s12894-015-0118-2] [Citation(s) in RCA: 54] [Impact Index Per Article: 5.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/19/2015] [Accepted: 12/22/2015] [Indexed: 11/24/2022] Open
Abstract
BACKGROUND This study was performed to evaluate the impact of baseline characteristics and treatment methods on the outcome of sporadic renal angiomyolipoma (AML). METHODS This was a pooled analysis of individual data of 441 patients with AML retrieved from 58 studies and 3 institutional series. RESULTS Ninety-three patients underwent nephrectomy, 163 partial nephrectomy/enucleation, 128 embolisation, 19 cryoablation, 6 radiofrequency ablation, and 32 conservative treatment. Their mean follow-up period was 44.5 months. Patients who experienced major bleeding at presentation had significantly larger tumours than did those without bleeding (mean diameter, 10.1 vs. 5.9 cm, respectively; p < 0.0001). A total of 9.4 % and 26.4 % of bleeding tumours had a diameter of <4 and <6 cm, respectively. A tumour diameter of ≥8.0 cm (hazard ratio, 2.07; 95 % confidence interval, 1.20-4.77) and the treatment method (p = 0.001) were independent predictors of re-intervention. The risk of re-intervention was significantly higher after embolisation, particularly for large tumours (5-year rate of freedom from re-intervention: diameter of ≥8.0 cm, 49.2 %; diameter of <8.0 cm, 74.8 %; p = 0.018). Conservatively treated AMLs had a mean baseline diameter of 3.2 ± 2.7 cm; after 41 months, their mean diameter was 3.7 ± 3.1 cm (p = 0.109). CONCLUSIONS The prevalence of major bleeding is high in sporadic AMLs with a diameter of >6 cm. These results suggest that conservative treatment can be considered in AMLs of <6 cm in diameter. Among current treatment methods, embolisation was associated with a significantly higher risk of re-intervention. Further studies are needed to define risk factors for bleeding and assess the relative benefits of different treatment modalities.
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Affiliation(s)
- Teele Kuusk
- Department of Surgery and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, PO Box 21, 90029 OYS, Oulu, Finland.
| | - Fausto Biancari
- Department of Surgery and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, PO Box 21, 90029 OYS, Oulu, Finland.
| | - Brian Lane
- Division of Urology, Michigan State University, Grand Rapids, Michigan, USA.
| | - Conrad Tobert
- Division of Urology, Michigan State University, Grand Rapids, Michigan, USA.
| | - Steven Campbell
- Department of Urology, Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, Ohio, USA.
| | - Uri Rimon
- Sheba Medical Center, Tel-Hashomer, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
| | - Vito D'Andrea
- Department of Surgery and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, PO Box 21, 90029 OYS, Oulu, Finland.
| | - Aare Mehik
- Department of Surgery and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, PO Box 21, 90029 OYS, Oulu, Finland.
| | - Markku H Vaarala
- Department of Surgery and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, PO Box 21, 90029 OYS, Oulu, Finland.
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Kapoor A, Girard L, Lattouf JB, Pei Y, Rendon R, Card P, So A. Evolving Strategies in the Treatment of Tuberous Sclerosis Complex-associated Angiomyolipomas (TSC-AML). Urology 2015; 89:19-26. [PMID: 26723178 DOI: 10.1016/j.urology.2015.12.009] [Citation(s) in RCA: 20] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/09/2015] [Revised: 12/01/2015] [Accepted: 12/03/2015] [Indexed: 11/17/2022]
Abstract
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors that occur in multiple organ systems throughout the lifetime of the affected individuals. Renal angiomyolipomas occur in up to 80% of TSC patients, and chronic kidney disease from increasing tumor burden is the primary cause of TSC-related mortality. Our review evaluates evidence for localized and systemic therapy in the management of TSC-angiomyolipomas. Urologists or nephrologists experienced in TSC disease should coordinate the care of TSC patients with renal involvement to improve care and reduce costs.
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Affiliation(s)
- Anil Kapoor
- Division of Urology, McMaster University, Hamilton, Ontario, Canada
| | - Louis Girard
- Department of Medicine, The University of Calgary, Alberta, Canada
| | | | - York Pei
- University Health Network, Toronto General Hospital, Toronto, Ontario, Canada
| | - Ricardo Rendon
- QEII Health Sciences Centre-Department of Urology, Dalhousie University, Halifax, Nova Scotia, Canada
| | - Paul Card
- Kaleidoscope Strategic, Toronto, Ontario, Canada
| | - Alan So
- University of British Columbia, BCCA, Prostate Centre at Vancouver General Hospital, Vancouver, British Columbia, Canada.
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Tumor necrosis after preventive embolization of large renal angiomyolipomas. Diagn Interv Imaging 2015; 96:579-87. [DOI: 10.1016/j.diii.2015.01.008] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/13/2014] [Revised: 01/09/2015] [Accepted: 01/13/2015] [Indexed: 02/07/2023]
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Ng KH, Ng SM, Parker A. Annual review of children with tuberous sclerosis. Arch Dis Child Educ Pract Ed 2015; 100:114-21. [PMID: 25112285 DOI: 10.1136/archdischild-2013-304948] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/23/2013] [Accepted: 07/21/2014] [Indexed: 12/17/2022]
Abstract
Tuberous sclerosis complex is a complex childhood disorder characterised by the formation of hamartomas in multiple organs. Annual review of this disease is recommended to monitor the development of complications. We aim to provide a concise, evidence-based framework to assist clinicians during this annual review. We focus on the following areas: (A) what questions need to be asked during annual review, (B) which areas need emphasis on examination, (C) when is an investigation required and (D) referral to tertiary specialists and other members of the multidisciplinary team. It should also be noted that there are ongoing debates regarding screening intervals in certain areas. These include the frequency, modality of screening and degree of intervention for astrocytomas and renal angiomyolipomas. This review seeks to summarise the product of the ongoing debates, and provide evidence-based suggestions in light of the uncertainty.
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Affiliation(s)
- K H Ng
- The North West London Hospitals NHS Trust, Northwick Park Hospital, London, UK School of Clinical Medicine, University Of Cambridge, Cambridge, UK
| | - S M Ng
- School of Clinical Medicine, University Of Cambridge, Cambridge, UK
| | - A Parker
- School of Clinical Medicine, University Of Cambridge, Cambridge, UK Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge, UK
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Myoen S, Mitsuzuka K, Saito H, Ota H, Takase K, Arai Y. Spontaneous rupture of a renal angiomyolipoma at 25 weeks of pregnancy treated with transarterial embolization: A case report and review of the literature. Int J Urol 2015; 22:710-2. [PMID: 25881870 DOI: 10.1111/iju.12775] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/22/2014] [Revised: 02/23/2015] [Accepted: 02/26/2015] [Indexed: 11/30/2022]
Abstract
Treatment for ruptured renal angiomyolipoma in pregnancy requires immediate and appropriate decision-making based on the condition of the mother and fetus, and gestational age. A 37-year-old woman at 25 weeks of pregnancy presented with severe right flank pain. Computed tomography showed a ruptured right renal angiomyolipoma (8 cm in diameter). The maternal and fetal conditions were stable. Transcatheter arterial embolization was carried out electively 4 days after the rupture. Minimization of radiation exposure to the fetus was achieved by X-ray shielding for the fetus, low-dose-rate fluoroscopy, minimal angiography imaging and a color Doppler ultrasonography-guided procedure. Although threatened premature labor occurred because of post-embolization syndrome, the pregnancy was continued until cesarean section at 37 weeks of pregnancy.
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Affiliation(s)
- Shingo Myoen
- Department of Urology, Tohoku University School of Medicine, Sendai, Japan
| | - Koji Mitsuzuka
- Department of Urology, Tohoku University School of Medicine, Sendai, Japan
| | - Hideo Saito
- Department of Urology, Tohoku University School of Medicine, Sendai, Japan
| | - Hideki Ota
- Department of Diagnostic Radiology, Tohoku University School of Medicine, Sendai, Japan
| | - Kei Takase
- Department of Diagnostic Radiology, Tohoku University School of Medicine, Sendai, Japan
| | - Yoichi Arai
- Department of Urology, Tohoku University School of Medicine, Sendai, Japan
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Abstract
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. TSC alters cellular proliferation and differentiation, resulting in hamartomas of various organs, tumor formation, and altered neuronal migration. The phenotype is highly variable. Most individuals have seizures, commonly including infantile spasms, and there is variable intellectual disability and autism. Neonates can present with cardiac failure due to intracardiac rhabdomyomas. The likelihood of renal angiomyolipomas increases with age, and renal disease is the most common cause of death in adults with TSC. Pulmonary involvement occurs predominantly in women and carries a high morbidity and mortality. TSC is inherited as an autosomal dominant trait, but spontaneous mutations are common. A mutation of either TSC1 on chromosome 9 or TSC2 on chromosome 16 leads to dysfunction of hamartin or tuberin, respectively. These two proteins form a functional complex that modulates the mammalian target of rapamycin (mTOR) pathway. Medications that inhibit mTOR are being used to treat TSC-related tumors, and current studies are investigating whether these agents could alleviate other TSC complications. Consensus statements guide identification and optimal management of many of the TSC-related complications at diagnosis and throughout the lifespan. A multidisciplinary approach is necessary for optimal management of individuals with TSC.
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Affiliation(s)
- Monica P Islam
- Department of Child Neurology, Nationwide Children's Hospital, Ohio State University College of Medicine, Columbus, OH, USA.
| | - E Steve Roach
- Department of Child Neurology, Nationwide Children's Hospital, Ohio State University College of Medicine, Columbus, OH, USA
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Abstract
Owing to improvements in catheters and embolic agents, renal artery embolization (RAE) is increasingly used to treat nephrological and urological disease. RAE has become a useful adjunct to medical resuscitation in severe penetrating, iatrogenic or blunt renal traumatisms with active bleeding, and might avoid surgical intervention, particularly among patients that are haemodynamically stable. The role of RAE in pre-operative or palliative management of advanced malignant renal tumours remains debated; however, RAE is recommended as a first-line therapy for bleeding angiomyolipomas and can be used as a preventative treatment for angiomyolipomas at risk of bleeding. RAE represents an alternative to nephrectomy in various medical conditions, including severe uncontrolled hypertension among patients with end-stage renal disease, renal graft intolerance syndrome or autosomal dominant polycystic kidney disease. RAE is increasingly used to treat renal artery aneurysms or symptomatic renal arteriovenous malformations, with a low complication rate as compared with surgical alternatives. This Review highlights the potential use of RAE as an adjunct in the management of renal disease. We first compare and contrast the technical approaches of RAE associated with the various available embolization agents and then discuss the complications associated with RAE and alternative procedures.
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Seif Hany M, Elmalah Hosam G. Polyvinyl alcohol and N-butyl cyanoacrylate for transarterial embolization of ruptured renal angiomyolipomas. THE EGYPTIAN JOURNAL OF RADIOLOGY AND NUCLEAR MEDICINE 2014. [DOI: 10.1016/j.ejrnm.2014.05.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022] Open
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Abstract
Renal arterial embolization (RAE) performed for the treatment of renal masses has been proven to be a safe and effective technique, with several decades of experience. RAE is well tolerated with few complications, particularly if the time interval from embolization to surgery is reduced to less than 48 hours. Review of the literature suggests that RAE is also extremely effective for palliation of symptoms in the setting of nonoperative advanced stage renal cell carcinoma. In addition, this technique plays a large role in the management of angiomyolipomas that are symptomatic or at risk of spontaneous rupture. To date, RAE has not been evaluated in a randomized controlled setting, which has contributed to its underutilization. All of these potential benefits warrant the need for prospective studies for further validation.
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Affiliation(s)
- David Li
- Division of Interventional Radiology, Department of Radiology, Weill Cornell Medical College, New York, New York
| | - Bradley B Pua
- Division of Interventional Radiology, Department of Radiology, Weill Cornell Medical College, New York, New York
| | - David C Madoff
- Division of Interventional Radiology, Department of Radiology, Weill Cornell Medical College, New York, New York
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Hocquelet A, Cornelis F, Le Bras Y, Meyer M, Tricaud E, Lasserre AS, Ferrière JM, Robert G, Grenier N. Long-term results of preventive embolization of renal angiomyolipomas: evaluation of predictive factors of volume decrease. Eur Radiol 2014; 24:1785-93. [PMID: 24889998 DOI: 10.1007/s00330-014-3244-4] [Citation(s) in RCA: 47] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/23/2013] [Revised: 04/29/2014] [Accepted: 05/14/2014] [Indexed: 02/07/2023]
Abstract
OBJECTIVES To evaluate the efficacy of selective arterial embolization (SAE) of angiomyolipomas based on the percentage volume reduction after embolization and to identify predictive factors of volume decrease. METHODS Patients receiving prophylactic SAE of renal angiomyolipomas were included retrospectively over 3 years. The volume change after SAE and haemorrhagic or surgical events were recorded. Initial tumour volume, percentage tumour fat content, mean tumour density, embolic agent used, number of angiomyolipomas and tuberous sclerosis disease were evaluated as predictive factors of volume decrease. RESULTS A total of 19 patients with 39 angiomyolipomas were included with median follow-up of 28 months (interquartile range 21-37 months). All treatments were technically successful (92% primary and 8% secondary). No distal bleeding or any increase in size or surgical nephrectomy after SAE was recorded. Mean volume reduction was 72% (±24%). Volumes before SAE (R(2) = 0.276; p = 0.001), percentage fat content (R(2) = 0.612; p < 0.0001) and mean angiomyolipoma density (R(2) = 0.536; p < 0.0001) were identified as predictive factors of volume decrease. In multivariate regression, only percentage fat content influenced volume decreases. CONCLUSIONS SAE is an efficient treatment for angiomyolipoma devascularisation and volume reduction. A significant reduction of volume is modulated by the initial volume and tissue composition of the tumour. KEY POINTS • Selective arterial embolization is effective for angiomyolipoma devascularisation and volume reduction • Volume reduction depends of initial volume and tissue composition of the tumour • Selective arterial embolization is a low radiation treatment.
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Affiliation(s)
- A Hocquelet
- Diagnostic and Therapeutic Urology and Vascular Imaging, Centre Hospitalier Universitaire Pellegrin, Place Amélie-Raba-Léon, 33000, Bordeaux, France,
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39
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Renoduodenal fistula after transcatheter embolization of renal angiomyolipoma. Cardiovasc Intervent Radiol 2014; 38:232-5. [PMID: 24722895 DOI: 10.1007/s00270-014-0887-0] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/05/2014] [Accepted: 02/21/2014] [Indexed: 10/25/2022]
Abstract
Transcatheter embolization of renal angiomyolipomas is a routinely performed, nephron-sparing procedure with a favorable safety profile. Complications from this procedure are typically minor in severity, with postembolization syndrome the most common minor complication. Abscess formation is a recognized but uncommon major complication of this procedure and is presumably due to superinfection of the infarcted tissue after arterial embolization. In this case report, we describe the formation of a renoduodenal fistula after embolization of an angiomyolipoma, complicated by intracranial abscess formation and requiring multiple percutaneous drainage procedures and eventual partial nephrectomy.
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40
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Hansel DE, Rini BI. Molecular genetics of hereditary renal cancer: new genes and diagnostic and therapeutic opportunities. Expert Rev Anticancer Ther 2014; 8:895-905. [DOI: 10.1586/14737140.8.6.895] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/08/2022]
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41
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Rouvière O, Nivet H, Grenier N, Zini L, Lechevallier E. Kidney damage due to tuberous sclerosis complex: Management recommendations. Diagn Interv Imaging 2013; 94:225-37. [DOI: 10.1016/j.diii.2013.01.003] [Citation(s) in RCA: 33] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
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Patatas K, Robinson GJ, Ettles DF, Lakshminarayan R. Patterns of renal angiomyolipoma regression post embolisation on medium- to long-term follow-up. Br J Radiol 2013; 86:20120633. [PMID: 23392196 DOI: 10.1259/bjr.20120633] [Citation(s) in RCA: 34] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/05/2022] Open
Abstract
OBJECTIVE To assess the patterns of regression of renal angiomyolipoma (AML) post embolisation and report the outcomes related to the use of different embolic materials. METHODS A retrospective review of all patients who underwent embolisation for renal AML at our institution between January 2004 and April 2012. RESULTS 13 patients underwent 16 episodes of embolisation. Coils were used as the primary embolisation material in 10 episodes and microspheres in 6 episodes. The size reduction rate highly correlated on CT follow-up between the two groups, with 25.6% vs 22.7% reduction at 12 months, 27.5% vs 25.1% at 24 months, 35.0% vs 33.0% at 36 months and 35.0% vs 36.8% at 48 months. During follow-up, all tumours reduced in size with one patient requiring subsequent embolisation whose tumour reduced by only 6.5% after 1 year and subsequently exhibited regrowth after 4 years. Two patients presented with rebleeding and underwent repeat embolisation. Our overall retreatment rate (23%) is well within the literature range (up to 37%). None of the patients underwent surgery. CONCLUSION The majority of AML shrinkage occurs within the first year following embolisation and appears to plateau after 3 years, which could have an impact on follow-up strategy. The percentage reduction at 1 year may reflect the long-term effect of embolisation with tumours demonstrating minor size reduction more likely to relapse at long-term follow-up. Embolisation of renal AML produces durable long-term results regardless of the choice of embolic agent. ADVANCES IN KNOWLEDGE These findings provide information to guide CT follow-up of renal AML post embolisation.
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Affiliation(s)
- K Patatas
- Vascular Radiology Department, Hull Royal Infirmary, Hull, UK.
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43
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Azim A, Rajkumar G. Renal angiomyolipomas in tuberous sclerosis--rare but potentially life-threatening lesions. BMJ Case Rep 2012; 2012:bcr2012007720. [PMID: 23242096 PMCID: PMC4544443 DOI: 10.1136/bcr-2012-007720] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
Abstract
We discuss an 18-year-old girl, diagnosed with tuberous sclerosis complex and known to have renal angiomyolipomas (AMLs) but having no regular urological follow-up, who presented with left-sided abdominal pain and haematuria on urine dipstick testing at the out-of-hours General Practitioner (GP) service. She was diagnosed as having urinary tract infection/pyelonephritis and discharged with simple analgesia and antibiotics. Subsequent imaging of her renal tract demonstrated multiple large AMLs with evidence of recent bleeding, which required arterial embolisation.
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Affiliation(s)
- Adnan Azim
- Department of Urology, Basingstoke and North Hampshire Hospital, Basingstoke, UK.
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44
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Rouvière O, Nivet H, Grenier N, Zini L, Lechevallier E. [Guidelines for the management of tuberous sclerosis complex renal disease]. Prog Urol 2012; 22:367-79. [PMID: 22657256 DOI: 10.1016/j.purol.2012.03.006] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/25/2012] [Accepted: 03/26/2012] [Indexed: 01/10/2023]
Abstract
PURPOSE To review existing literature and deduce guidelines for the management of renal disease in patients with tuberous sclerosis complex (TSC). PATIENTS After review of literature, a core panel of five physicians wrote a draft that was evaluated by 14 reviewers who used a 9-level scale (1: total disagreement; 9: total agreement). The guidelines were then reformulated until each item received a median score superior or equal to 8. RESULTS Forty-eight to 80 % of TSC patients have significant renal involvement including angiomyolipomas (AMLs), cysts, malignant tumors and renal insufficiency. It is recommended to perform an abdominal ultrasound (and serum creatinine if abnormal ultrasound) when TSC is diagnosed. This work-up will be repeated every 3-5years if normal. Associated autosomal dominant polycystic kidney disease must be suspected in case of numerous and large cysts. After the age of 20, follow-up should use computed tomography (CT) or MRI that are more precise than ultrasound for the measurement of AMLs. Biopsy of a renal mass should be discussed in case of calcifications, necrosis or rapid growth. Females with TSC should undergo screening for pulmonary lymphangioleiomyomatosis by CT at the age of 18, and, if negative at the age of 30-40. Acute bleeding should be treated with percutaneous embolization. Asymptomatic angiomyolipomas with several risk factors (size>80mm, predominant vascular component, micro-aneurysms) should undergo prophylactic treatment, if possible using embolization. The role of mTOR inhibitors in the management of angiomyolipomas needs to be defined. CONCLUSION Standardization of follow-up and treatment is necessary to improve the management of TSC renal involvement.
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Affiliation(s)
- O Rouvière
- Service d'imagerie urinaire et vasculaire, hôpital Edouard-Herriot, hospices civils de Lyon, pavillon P, 5, place d'Arsonval, 69437 Lyon cedex 3, France.
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45
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Chopra M, Lawson JA, Wilson M, Kennedy SE, Taylor P, Buckley MF, Wargon O, Parasivam G, Camphausen C, Yates D, Mowat D. An Australian tuberous sclerosis cohort: are surveillance guidelines being met? J Paediatr Child Health 2011; 47:711-6. [PMID: 21449900 DOI: 10.1111/j.1440-1754.2011.02038.x] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/17/2023]
Abstract
AIM This study aims to describe the phenotypic and genotypic characteristics of 45 Australian patients with tuberous sclerosis complex (TSC), to assess risk factors for intellectual disability, to compare patients with TSC1 and TSC2 mutations and to assess adherence to surveillance recommendations. METHODS Phenotypic features were recorded in 45 patients who fulfilled established criteria for a diagnosis of definite TSC. All patients underwent TSC1 and TSC2 sequencing and multiplex ligand probe amplification. Features were compared in patients with TSC1 mutations versus TSC2 mutations. Recent surveillance was recorded at the point of first contact. Surveillance adherence was compared in the adult and paediatric cohorts. RESULTS This cohort consisted of 31 children and 14 adults with definite TSC. The rates of TSC manifestations and TSC1 and TSC2 mutation detection rates were consistent with previous studies. There was a trend towards greater severity for patients with TSC2 mutations compared with their TSC1 counterparts, particularly for autistic spectrum disorder, but this did not reach statistical significance. The presence of seizures was shown to be a risk factor for intellectual disability (P < 0.001). Overall, 12/45 patients (27%) were not undergoing recommended surveillance at the point of first contact. Surveillance guidelines were being followed in 3/31 (11%) children compared with 9/14 (64%) adult patients (P < 0.05). CONCLUSIONS The genotypic and phenotypic characteristics of this TSC cohort were consistent with previous studies. Surveillance rates in adult patients were significantly lower than in paediatric patients. This highlights the need for patients with TSC to undergo a focussed transition into adult services.
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Affiliation(s)
- Maya Chopra
- The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, Australia.
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Paul E, Thiele EA, Shailam R, Rosales AM, Sadow PM. Case records of the Massachusetts General Hospital. Case 26-2011. A 7-year-old boy with a complex cyst in the kidney. N Engl J Med 2011; 365:743-51. [PMID: 21864169 DOI: 10.1056/nejmcpc1103557] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/19/2022]
Affiliation(s)
- Elahna Paul
- Department of Pediatric Nephrology, Massachusetts General Hospital, and Harvard Medical School, Boston, USA
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47
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Radhakrishnan R, Verma S. Clinically relevant imaging in tuberous sclerosis. J Clin Imaging Sci 2011; 1:39. [PMID: 21966635 PMCID: PMC3177408 DOI: 10.4103/2156-7514.83230] [Citation(s) in RCA: 25] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/18/2011] [Accepted: 06/20/2011] [Indexed: 01/28/2023] Open
Abstract
Tuberous sclerosis (TS), also known as Bourneville disease or Bourneville–Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC.
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Affiliation(s)
- Rupa Radhakrishnan
- Department of Radiology, University of Cincinnati Medical Center, Cincinnati, OH, USA
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48
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Villalta JD, Sorensen MD, Durack JC, Kerlan RK, Stoller ML. Selective arterial embolization of angiomyolipomas: a comparison of smaller and larger embolic agents. J Urol 2011; 186:921-7. [PMID: 21791345 DOI: 10.1016/j.juro.2011.04.082] [Citation(s) in RCA: 48] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/25/2010] [Indexed: 02/07/2023]
Abstract
PURPOSE Selective transarterial embolization for renal angiomyolipomas is effective in preventing or limiting hemorrhage and preserving normal parenchyma. Data are insufficient regarding the safety and efficacy of embolic agents. We compared transarterial embolization of angiomyolipomas using embolic agents of different sizes. MATERIALS AND METHODS We performed a retrospective review of all transarterial angiomyolipoma embolizations from 1999 to 2010, and evaluated demographics, procedural data, embolization response and outcomes comparing smaller (less than 150 microns) and larger (more than 150 microns) embolic agents. RESULTS Overall 48 patients underwent 66 embolization procedures for 72 angiomyolipomas. Smaller agents were used more commonly (58%). Age, gender, indications, pre-embolization angiomyolipoma size and prevalence of tuberous sclerosis were similar between the groups. Angiomyolipomas decreased a mean±SD 25%±18% after embolization with no differences between the groups (p=0.24). There were 10 angiomyolipomas that required 14 repeat embolizations (median 14 months). Repeat embolization of the same mass was almost sixfold more likely in those embolized with smaller agents (OR 5.88, 95% CI 1.64-20.8, p=0.002). Complications were similar between the groups, although 2 of 3 patients with acute respiratory distress underwent embolization with smaller agents. Patients with tuberous sclerosis had similar angiomyolipoma size, decrease in angiomyolipoma size, followup, complications and need for repeat embolization. Practice patterns changed regarding embolization agent size during the study period. CONCLUSIONS Angioembolization with larger embolic agents is associated with higher long-term efficacy compared to smaller agents. Due to concerns for serious pulmonary complications, we no longer use agents smaller than 150 microns. Prospective studies are necessary to evaluate the optimal embolization technique to achieve durable outcomes without increasing patient morbidity.
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Affiliation(s)
- Jacqueline D Villalta
- Department of Urology, University of California, San Francisco, San Francisco, California 94143, USA
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49
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Planché O, Correas JM, Mader B, Joly D, Méjean A, Hélénon O. Prophylactic embolization of renal angiomyolipomas: evaluation of therapeutic response using CT 3D volume calculation and density histograms. J Vasc Interv Radiol 2011; 22:1388-95. [PMID: 21757371 DOI: 10.1016/j.jvir.2011.05.016] [Citation(s) in RCA: 33] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/21/2009] [Revised: 05/22/2011] [Accepted: 05/30/2011] [Indexed: 02/07/2023] Open
Abstract
PURPOSE To evaluate the efficacy and tolerance of prophylactic embolization of angiomyolipomas (AMLs) and to analyze the therapeutic response by using three-dimensional 3D volume calculation and 3D quantification of fatty and angiomyogenic components during computed tomography (CT) follow-up. MATERIALS AND METHODS Over a 51-month period, 30 patients with 34 AMLs (mean diameter, 82 mm ± 37; range, 30-173 mm) underwent 37 prophylactic embolization procedures. The protocol included supraselective arterial embolization with a combination of absolute alcohol, microparticles, and coils. Mean clinical and imaging follow-up were 20.5 and 14.5 months, respectively. The 3D volume calculation and density histograms were retrospectively analyzed for treatment evaluation. RESULTS Four technical failures were observed (11%), with one successful secondary reattempt, resulting in 31 AMLs (91.2%) being embolized. Thirty (88.2%) had CT follow-up and were included in the analysis. Embolization was complete after a single procedure for 25 AMLs (83%) and required two procedures in two cases. Three AMLs had incomplete embolization and were scheduled for a second procedure. Mean volume reductions were 43% ± 32 for AMLs followed for 1-6 months after embolization and 81% ± 19 for the 12 AMLs followed for more than 1 year. The volume reduction after embolization was significantly correlated with the AML initial composition, with fat-rich AMLs showing a much smaller reduction of size than predominantly angiomyomatous AMLs (P < .05). CONCLUSIONS Prophylactic embolization allows significant reduction of AML volume with a high success rate. Three-dimensional CT volume and density histogram calculations suggest that it is especially effective on angiomyogenic components and fat-poor AMLs.
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Affiliation(s)
- Olivier Planché
- Adult Radiology Service, Hôpital Necker Enfants Malades, 161 rue de Sèvres, 75743 Paris 15, France.
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50
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Chatziioannou A, Gargas D, Malagari K, Kornezos I, Ioannidis I, Primetis E, Moschouris H, Gouliamos A, Mourikis D. Transcatheter arterial embolization as therapy of renal angiomyolipomas: the evolution in 15 years of experience. Eur J Radiol 2011; 81:2308-12. [PMID: 21708442 DOI: 10.1016/j.ejrad.2011.06.003] [Citation(s) in RCA: 23] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/03/2011] [Accepted: 06/01/2011] [Indexed: 11/16/2022]
Abstract
OBJECTIVE This study aims at presenting the evolution of the embolization technique in treating renal angiomyolipomas (AMLs) either diagnosed in patients with acute bleeding or discovered accidentally. METHODS Ten patients with renal AMLs have been through thirteen selective transcatheter arterial embolizations for 15 years. Two patients had tuberous sclerosis complex (TSC) with bilateral tumors and were embolized twice. Four embolic materials were employed: PVA particles, Gianturco coils, microspheres and microcoils. Catheterization was achieved by means of 5F Cobra 2 catheters and coaxial microcatheter systems. RESULTS On an emergency basis, embolization was a first-line treatment. In one case, surgery was necessary; in two patients, a second embolization was performed. When treatment was preventive, a single embolization proved to be sufficient, as well. There was no significant deterioration of the serum creatinine levels in the post-embolization period. CONCLUSION Selective arterial embolization is a rather safe and effective technique to treat AMLs both urgently and preventively. Different embolic materials can be employed. Microspheres and microcatheters stand for new promising materials.
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Affiliation(s)
- A Chatziioannou
- University of Athens, Aretaieion Hospital, Radiology Department, Greece
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