Selective Arterial Embolization of Giant Renal Angiomyolipoma Associated with Tuberous Sclerosis Complex Using Particular and Liquid Embolic Agents

Abstract Background Renal angiomyolipoma (RAML) is a rare benign kidney tumour comprised of adipose tissue, smooth muscle, and blood vessels. It can cause fatal complications if it ruptures. Although there have been reports of RAMLs rupturing, it is unusual to see RAMLs rupture during pregnancy, especially in pregnant women with tuberous sclerosis (TSC). Moreover, we reported a rare complication after selective arterial embolization (SAE) for the first time, which called aseptic liquefaction necrosis. Case presentation The case is a 16-week-pregnant woman with TSC who presented with severe flank pain, which was secondary to the rupture of a large, previously unknown RAML. This was confirmed by emergency computed tomography and successfully treated with selective arterial embolization after the patient received counselling and provided prior informed written consent for medical termination of pregnancy (MTP). The patient underwent abortion 3 weeks after the SAE. The patient required drainage 2 months after the SAE because of aseptic liquefaction necrosis. During follow-up, the patient’s lesion remained stable. Conclusion RAML rupture is a rare but rather serious complication in pregnant tuberous sclerosis patients. Selective arterial embolization (SAE) should be performed immediately, and the status of the pregnancy needs to be assessed by a multidisciplinary team. We also report for the first time the rare complication of aseptic liquefaction necrosis after SAE of RAML, for which percutaneous drainage is effective.

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Effect of everolimus treatment for regrown renal angiomyolipoma associated with tuberous sclerosis complex after transcatheter arterial embolization

International Journal of Clinical Oncology ◽

10.1007/s10147-018-1325-0 ◽

2018 ◽

Vol 23 (6) ◽

pp. 1134-1139 ◽

Cited By ~ 2

Author(s):

Takashi Hatano ◽

Taishi Matsu-ura ◽

Kei-ichiro Mori ◽

Hiroyuki Inaba ◽

Katsuhisa Endo ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Transcatheter Arterial Embolization ◽

Arterial Embolization ◽

Renal Angiomyolipoma

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High-throughput screening of circRNAs reveals novel mechanisms of tuberous sclerosis complex-related renal angiomyolipoma

Human Genomics ◽

10.1186/s40246-021-00344-1 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Yang Zhao ◽

Hao Guo ◽

Wenda Wang ◽

Guoyang Zheng ◽

Zhan Wang ◽

...

Keyword(s):

Lipid Metabolism ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Regulatory Network ◽

High Throughput Screening ◽

Kidney Tissue ◽

Cell Types ◽

The Body ◽

Differentially Expressed ◽

Renal Angiomyolipoma

Abstract Objective Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by lesions throughout the body. Our previous study showed the abnormal up-regulation of miRNAs plays an important part in the pathogenesis of TSC-related renal angiomyolipoma (TSC-RAML). circRNAs were known as important regulators of miRNA, but little is known about the circRNAs in TSC-RAMLs. Methods Microarray chips and RNA sequencing were used to identify the circRNAs and mRNAs that were differently expressed between the TSC-RAML and normal kidney tissue. A competitive endogenous RNA (ceRNA) regulatory network was constructed to reveal the regulation of miRNAs and mRNAs by the circRNAs. The biological functions of circRNA and mRNA were analyzed by pathway analysis. Microenvironmental cell types were estimated with the MCP-counter package. Results We identified 491 differentially expressed circRNAs (DECs) and 212 differentially expressed genes (DEGs), and 6 DECs were further confirmed by q-PCR. A ceRNA regulatory network which included 6 DECs, 5 miRNAs, and 63 mRNAs was established. Lipid biosynthetic process was significantly up-regulated in TSC-RAML, and the humoral immune response and the leukocyte chemotaxis pathway were found to be down-regulated. Fibroblasts are enriched in TSC-RAML, and the up-regulation of circRNA_000799 and circRNA_025332 may be significantly correlated to the infiltration of the fibroblasts. Conclusion circRNAs may regulate the lipid metabolism of TSC-RAML by regulation of the miRNAs. Fibroblasts are enriched in TSC-RAMLs, and the population of fibroblast may be related to the alteration of circRNAs of TSC-RAML. Lipid metabolism in fibroblasts is a potential treatment target for TSC-RAML.

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Efficacy and Safety of Sirolimus for Renal Angiomyolipoma in Patients with Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis: A Systematic Review

The Journal of Urology ◽

10.1016/j.juro.2014.04.096 ◽

2014 ◽

Vol 192 (5) ◽

pp. 1424-1430 ◽

Cited By ~ 23

Author(s):

Zhu-feng Peng ◽

Lu Yang ◽

Ting-ting Wang ◽

Ping Han ◽

Zhen-hua Liu ◽

...

Keyword(s):

Systematic Review ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Renal Angiomyolipoma ◽

Efficacy And Safety

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RARE-25. RETINAL ASTROCYTOMA mTOR INHIBITOR THERAPY IN TUBEROUS SCLEROSIS MOSAICISM

Neuro-Oncology ◽

10.1093/neuonc/noaa222.736 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii447-iii447

Author(s):

Naomi Evans ◽

Katherine Paton ◽

Harinder Kaur Gill ◽

Juliette Hukin

Keyword(s):

Optic Nerve ◽

Retinal Detachment ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Mtor Inhibitor ◽

Mammalian Target Of Rapamycin ◽

Neovascular Glaucoma ◽

Renal Angiomyolipoma ◽

Gradual Reduction ◽

Health Canada

Abstract INTRODUCTION Everolimus is an inhibitor of mTORC1 (mammalian target of rapamycin complex 1), it is Health Canada and FDA approved for SEGA and renal angiomyolipoma in the setting of tuberous sclerosis complex (TSC). There is little data available in regards to this treatment of TSC associated retinal astrocytoma (RA). Although the behaviour of RA is often indolent or slowly progressive, aggressive behaviour with retinal detachment and neovascular glaucoma requiring enucleation has been reported in several patients. Definite TSC diagnosis is established when either two major features or one major and two minor features are present. Probable TSC diagnosis is established when one major plus one minor feature is present. METHODS We report a child with probable TSC mosaicism, with negative serum NGS for TSC but RA and retinal achromic patch on the left. A left retinal peripapillary astrocytoma around optic nerve and very close to fovea was noted. There was concern that if it grew or there were to be any leakage it would cause visual impairment. This lead to therapy with everolimus 4.5 mg/m2/d aiming for level between 5 and 10 mcg/L. RESULTS This boy has had a gradual reduction of the RA over the last 29 months, with healthy retina in the region no longer occupied by the lesion and preserved vision. He has tolerated therapy well with occasional mouth ulcers. CONCLUSION mTORC1 inhibition is effective therapy to preserve vision in the setting of retinal astrocytoma and tuberous sclerosis mosaicism.

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Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.37952 ◽

2016 ◽

Vol 170 (12) ◽

pp. 3323-3326 ◽

Cited By ~ 4

Author(s):

Eryn Dow ◽

Ingrid Winship

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Renal Angiomyolipoma

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Selective Arterial Embolization of Renal Angiomyolipomas with a N-Butyl Cyanoacrylate-Lipiodol Mixture: Efficacy, Safety, Short- and Mid-Term Outcomes

Journal of Clinical Medicine ◽

10.3390/jcm10184062 ◽

2021 ◽

Vol 10 (18) ◽

pp. 4062

Author(s):

François-Victor Prigent ◽

Kévin Guillen ◽

Pierre-Olivier Comby ◽

Julie Pellegrinelli ◽

Nicolas Falvo ◽

...

Keyword(s):

Arterial Embolization ◽

Volume Reduction ◽

Renal Angiomyolipoma ◽

Cyanoacrylate Glue ◽

Selective Arterial Embolization ◽

Before And After ◽

The Mean ◽

Magnetic Resonance Imaging Mri ◽

Postembolization Syndrome

Selective arterial embolization (SAE) for renal angiomyolipoma (rAML) is effective to treat or prevent bleeding. We report our experience using a cyanoacrylate–Lipiodol mixture. We performed a single-center retrospective review of all rAMLs embolized with cyanoacrylate glue between July 2014 and June 2020. Demographics, tuberous sclerosis complex (TSC) status, clinical presentation, angiography features, and follow-up data were recorded. Pre- and post-procedure rAML sizes and volumes were estimated from computed tomography (CT) or magnetic resonance imaging (MRI) studies. Kidney function was assessed before and after the procedure. We identified 24 patients (22 females and 2 males, mean age 51 years) treated for 27 AMLs, either prophylactically (n = 20) or as an emergency (n = 4). Technical success was achieved for 25/27 AMLs; two patients, each with a single AML, required nephrectomy and repeated embolization, respectively. Major complications occurred in three patients and minor complications such as postembolization syndrome in 15 patients. AML volume reduction after embolization was 55.1% after a mean follow-up of 15 months (range, 1–72 months). Factors associated with greater volume reduction were a smaller percentage of fat (p = 0.001), larger initial rAML volume (p = 0.014), and longer follow-up (p = 0.0001). The mean creatinine level did not change after SAE. Embolization of rAMLs with a mixture of cyanoacrylate and Lipiodol is feasible, safe, and effective in significantly decreasing tumor volume.

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Selective Arterial Embolization of Renal Angiomyolipoma: Efficacy, Tumor Volume Reduction and Complications

Siriraj Medical Journal ◽

10.33192/smj.2021.44 ◽

2021 ◽

Vol 73 (5) ◽

Author(s):

Walailak Chaiyasoot ◽

Jirawadee Yodying ◽

Thanita Limsiri

Keyword(s):

Success Rate ◽

Clinical Success ◽

Three Dimensional ◽

Clinical Success Rate ◽

Arterial Embolization ◽

P Value ◽

Renal Angiomyolipoma ◽

Tumor Rupture ◽

Selective Arterial Embolization ◽

Density Histogram

Objective: To evaluate the efficacy and complications of selective arterial embolization in renal angiomyolipoma and to identify predictive factors for tumor rupture.Materials and Methods: Overall, 21 patients with 25 renal angiomyolipoma (AML) underwent selective arterial embolization (SAE) between January 2008 and June 2019, comprising 15 cases involving prophylaxis embolization of a tumor >4 cm diameter and 10 involving embolization for a ruptured tumor. Multidetector computed tomography (MDCT) was performed pre- and post-SAE, using the 2D tumor diameter in the ruptured AMLs. Three-dimensional volumetry and density histogram were performed for determining the total tumor volume, fat, and angiomyogenic component reduction in the unruptured AMLs. The predictive factors for tumor rupture, the treatment outcome and complications were analyzed. Results: The clinical success rate was 84% (21/25 cases) and the technical success rate was 96% (24/25 cases). The 3D volume post-SAE within 1-3 months showed a greater decrement of the enhanced angiomyogenic component than the fat component, with median percentages of -62.2% and -18.4%, respectively (p-value = 0.333). Minor complications were post-embolization syndrome (5 case, 20%) and minimal renal infarction (4 cases, 16%). Renal abscesses were the major complications (3 cases, 12%). A factor associated with tumor rupture was the presence of an intra-tumoral aneurysm (p-value < 0.05).Conclusion: SAE is an effective treatment for renal AML with a high technical and clinical success rate and limited complications. Three-dimensional volume measurement and density histogram analysis might be better tools than two-dimensional CT to evaluate post-SAE response, which is crucial for management planning.

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