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  1. Sasongko TH, Kademane K, Chai Soon Hou S, Jocelyn TXY, Zabidi-Hussin Z
    Cochrane Database Syst Rev, 2023 Jul 11;7(7):CD011272.
    PMID: 37432030 DOI: 10.1002/14651858.CD011272.pub3
    BACKGROUND: Potential benefits of rapamycin or rapalogs for treating people with tuberous sclerosis complex (TSC) have been shown. Currently everolimus (a rapalog) is only approved for TSC-associated renal angiomyolipoma and subependymal giant cell astrocytoma (SEGA), but not other manifestations of TSC. A systematic review needs to establish evidence for rapamycin or rapalogs for various manifestations in TSC. This is an updated review.

    OBJECTIVES: To determine the effectiveness of rapamycin or rapalogs in people with TSC for decreasing tumour size and other manifestations and to assess the safety of rapamycin or rapalogs in relation to their adverse effects.

    SEARCH METHODS: We identified relevant studies from the Cochrane-Central-Register-of-Controlled-Trials (CENTRAL), Ovid MEDLINE and ongoing trials registries with no language restrictions. We searched conference proceedings and abstract books of conferences. Date of the last searches: 15 July 2022.

    SELECTION CRITERIA: Randomised controlled trials (RCTs) or quasi-RCTs of rapamycin or rapalogs in people with TSC.

    DATA COLLECTION AND ANALYSIS: Two review authors independently extracted data and assessed the risk of bias of each study; a third review author verified the extracted data and risk of bias decisions. We assessed the certainty of the evidence using GRADE.

    MAIN RESULTS: The current update added seven RCTs, bringing the total number to 10 RCTs (with 1008 participants aged 3 months to 65 years; 484 males). All TSC diagnoses were by consensus criteria as a minimum. In parallel studies, 645 participants received active interventions and 340 placebo. Evidence is low-to-high certainty and study quality is mixed; mostly a low risk of bias across domains, but one study had a high risk of performance bias (lack of blinding) and three studies had a high risk of attrition bias. Manufacturers of the investigational products supported eight studies. Systemic administration Six studies (703 participants) administered everolimus (rapalog) orally. More participants in the intervention arm reduced renal angiomyolipoma size by 50% (risk ratio (RR) 24.69, 95% confidence interval (CI) 3.51 to 173.41; P = 0.001; 2 studies, 162 participants, high-certainty evidence). In the intervention arm, more participants in the intervention arm reduced SEGA tumour size by 50% (RR 27.85, 95% CI 1.74 to 444.82; P = 0.02; 1 study; 117 participants; moderate-certainty evidence) ,and reported more skin responses (RR 5.78, 95% CI 2.30 to 14.52; P = 0.0002; 2 studies; 224 participants; high-certainty evidence). In one 18-week study (366 participants), the intervention led to 25% fewer seizures (RR 1.63, 95% CI 1.27 to 2.09; P = 0.0001) or 50% fewer seizures (RR 2.28, 95% CI 1.44 to 3.60; P = 0.0004); but there was no difference in numbers being seizure-free (RR 5.30, 95% CI 0.69 to 40.57; P = 0.11) (moderate-certainty evidence). One study (42 participants) showed no difference in neurocognitive, neuropsychiatry, behavioural, sensory and motor development (low-certainty evidence). Total adverse events (AEs) did not differ between groups (RR 1.09, 95% CI 0.97 to 1.22; P = 0.16; 5 studies; 680 participants; high-certainty evidence). However, the intervention group experienced more AEs resulting in withdrawal, interruption of treatment, or reduced dose (RR 2.61, 95% CI 1.58 to 4.33; P = 0.0002; 4 studies; 633 participants; high-certainty evidence and also reported more severe AEs (RR 2.35, 95% CI 0.99 to 5.58; P = 0.05; 2 studies; 413 participants; high-certainty evidence). Topical (skin) administration Four studies (305 participants) administered rapamycin topically. More participants in the intervention arm showed a response to skin lesions (RR 2.72, 95% CI 1.76 to 4.18; P < 0.00001; 2 studies; 187 participants; high-certainty evidence) and more participants in the placebo arm reported a deterioration of skin lesions (RR 0.27, 95% CI 0.15 to 0.49; 1 study; 164 participants; high-certainty evidence). More participants in the intervention arm responded to facial angiofibroma at one to three months (RR 28.74, 95% CI 1.78 to 463.19; P = 0.02) and three to six months (RR 39.39, 95% CI 2.48 to 626.00; P = 0.009; low-certainty evidence). Similar results were noted for cephalic plaques at one to three months (RR 10.93, 95% CI 0.64 to 186.08; P = 0.10) and three to six months (RR 7.38, 95% CI 1.01 to 53.83; P = 0.05; low-certainty evidence). More participants on placebo showed a deterioration of skin lesions (RR 0.27, 95% CI 0.15 to 0.49; P < 0.0001; 1 study; 164 participants; moderate-certainty evidence). The intervention arm reported a higher general improvement score (MD -1.01, 95% CI -1.68 to -0.34; P < 0.0001), but no difference specifically in the adult subgroup (MD -0.75, 95% CI -1.58 to 0.08; P = 0.08; 1 study; 36 participants; moderate-certainty evidence). Participants in the intervention arm reported higher satisfaction than with placebo (MD -0.92, 95% CI -1.79 to -0.05; P = 0.04; 1 study; 36 participants; low-certainty evidence), although again with no difference among adults (MD -0.25, 95% CI -1.52 to 1.02; P = 0.70; 1 study; 18 participants; low-certainty evidence). Groups did not differ in change in quality of life at six months (MD 0.30, 95% CI -1.01 to 1.61; P = 0.65; 1 study; 62 participants; low-certainty evidence). Treatment led to a higher risk of any AE compared to placebo (RR 1.72, 95% CI 1.10, 2.67; P = 0.02; 3 studies; 277 participants; moderate-certainty evidence); but no difference between groups in severe AEs (RR 0.78, 95% CI 0.19 to 3.15; P = 0.73; 1 study; 179 participants; moderate-certainty evidence).

    AUTHORS' CONCLUSIONS: Oral everolimus reduces the size of SEGA and renal angiomyolipoma by 50%, reduces seizure frequency by 25% and 50% and implements beneficial effects on skin lesions with no difference in the total number of AEs compared to placebo; however, more participants in the treatment group required a dose reduction, interruption or withdrawal and marginally more experienced serious AEs compared to placebo. Topical rapamycin increases the response to skin lesions and facial angiofibroma, an improvement score, satisfaction and the risk of any AE, but not severe adverse events. With caution regarding the risk of severe AEs, this review supports oral everolimus for renal angiomyolipoma, SEGA, seizure, and skin lesions, and topical rapamycin for facial angiofibroma.

    Matched MeSH terms: Angiomyolipoma*
  2. Koh KB, George J
    Scand. J. Urol. Nephrol., 1996 Aug;30(4):265-8.
    PMID: 8908645
    Angiomyolipomas are rare tumours of the kidney which have a tendency to bleed. We studied the clinical and radiological features of 11 patients from our institution to identify features which may be predictive of a massive haemorrhage. Tumours more than 6 cm in diameter were found to bleed and the demonstration of pseudoaneurysms on contrast CT scanning was associated with massive haemorrhage. We conclude that large angiomyolipomas should be treated to avoid haemorrhage and the detection of pseudoaneurysms should prompt urgent treatment.
    Matched MeSH terms: Angiomyolipoma/complications
  3. Priyanka G, Poh EY, Yeong SS
    Med J Malaysia, 2013 Dec;68(6):473-4.
    PMID: 24632917
    Angiomyolipomas (AML) are the most common mesenchymal renal neoplasms arising in the cortex or medulla. Intra-renal and retroperitoneal hemorrhages have been frequently reported. AML can exceptionally involve the renal vein and inferior vena cava. We report a case with extension into the inferior vena cava.
    Matched MeSH terms: Angiomyolipoma
  4. Koh, P.S., Muhilan, P., Dublin, N., Razack, A.H.
    JUMMEC, 2009;12(1):39-43.
    MyJurnal
    Renal angiomyolipoma, once considered a rare benign renal tumour, is relatively common these days. They account for 0.3-3.0% of all renal masses. Histologically, it is composed of adipose tissue, smooth muscles and blood vessels. Here, we wish to highlight five cases of renal angiomyolipomas which were presented to the University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia, over a two-year period between June 2005 and June 2007. This study wish to illustrate its varied clinical presentation and the management undertaken for each underlying condition. These cases were presented in the form of spontaneous perirenal haemorrhage, a large asymptomatic renal mass, a small asymptomatic renal mass, a symptomatic renal angiomyolipoma and a case of renal angiomyolipoma mimicking a renal tumour. Each of these cases varied in its clinical presentation; thus, management has become very challenging to clinicians ranging from conservative management to active intervention, be it operatively or non-operatively.
    Matched MeSH terms: Angiomyolipoma
  5. Haritharan T, Sritharan S, Bhimji S
    Med J Malaysia, 2006 Oct;61(4):493-5.
    PMID: 17243531 MyJurnal
    Renal angiomyolipomas are innocuous benign tumours which rarely behave aggressively. This is a case of a 48 year old Malay lady presenting with right sided abdominal pain associated with a large right sided abdominal mass. She was diagnosed with renal angiomyolipoma of the right kidney complicated by inferior vena caval tumour thrombosis. She successfully underwent a radical nephrectomy and inferior vena caval thrombectomy using cardiopulmonary bypass and deep hypothermic circulatory arrest.
    Matched MeSH terms: Angiomyolipoma/pathology*; Angiomyolipoma/surgery
  6. Hui Min Chong, Shien Yee Ng
    MyJurnal
    The case report describes the presentation of a 19-year old female with tuberous sclerosis who presented with progressive dyspnoea over 2 days.
    Chest radiograph revealed bilateral pneumothorax. Computed tomography showed features of pulmonary lymphangioleiomyomatosis and bilateral renal angiomyolipomas. The coexistence of both conditions may cause devastating morbidity and mortality.
    Matched MeSH terms: Angiomyolipoma
  7. Sathyamoorthy P
    Singapore Med J, 1993 Aug;34(4):358-60.
    PMID: 8266217
    Incomplete form of tuberous sclerosis (TS) may present with acute complications such as haematuria, retroperitoneal haemorrhage or pneumothorax. Such cases may pose diagnostic difficulty. A patient with incomplete form of TS without any cerebral impairment who presented as an acute surgical abdomen is reported. The diagnostic criteria of TS are reviewed. Visceral manifestations of TS including acute complications are discussed. The importance of recognising such presentations is stressed.
    Matched MeSH terms: Angiomyolipoma/pathology
  8. Kadhim Jawad Obaid, Yahya Mohammad Arpine, Nor Salmah Bakar, Marlina Tanty Ramli Hamid, Ahmed Ramzi Yusof
    Intramuscular shoulder angiomyolipomas are very rare. We report a case in a 22-year-old male with a well circumscribed lesion located on the back of the shoulder. This lesion, differs from renal angiomyolipoma in terms of non-association with tuberous sclerosis, circumscription and male predominance. Another characteristic feature is the absence of epithelioid cells. Differential diagnosis includes lipoma, angiolipoma, angioleiomyoma, hemangioma, myolipoma and liposarcoma. It is distinguished from the above mentioned entities by the presence of a combination of thick-walled blood vessels, smooth muscle and fat.
    Matched MeSH terms: Angiomyolipoma
  9. Lim, Pei Shan, Ng, BK, Rozman, Z, Nirmala K, Shuhaila A, Omar MH
    MyJurnal
    Renal angiomyolipoma is a rare disease seen during pregnancy. Rupture of renal angiomyolipoma could be catastrophic and might result in maternal and even perinatal mortality. Management includes conservative vs surgical approach. A 29-year-old woman Para 2 with history of bleeding renal angiomyolipoma in her first pregnancy at 11 weeks treated with selective arterial embolisation. The pregnancy was terminated. Even though having small residual tumour, her subsequent pregnancy progressed well with conservative management. Intervention is advisable in the presence of large or symptomatic renal angiomyolipoma prior to pregnancy in order to minimise potential life-threatening haemorrhage during pregnancy. For those with small tumour of less than 4cm, perhaps conservative approaches i.e. frequent follow-up and close monitoring would assist in early identification of any rupture or bleeding.
    Matched MeSH terms: Angiomyolipoma
  10. Ameen SA, Salina H, Zahedi FD, Primuharsa-Putra SH, Masir N
    Iran J Otorhinolaryngol, 2019 May;31(104):191-195.
    PMID: 31223601
    Introduction: Angiomyolipoma (AML), a benign mesenchymal tumor that commonly arises from the kidney, may be associated with tuberous sclerosis complex and perivascular epithelioid cell tumors (PEComas). Nasal angiomyolipoma is very rare and usually occurs in elderly individuals with epistaxis and nasal obstruction.

    Case Report: We report a rare case of nasal angiomyolipoma in a young male. To the best of our knowledge, this is the first documented case of angiomyolipoma originating from the posterior end of the inferior turbinate, clinically mimicking juvenile nasopharyngeal angiofibroma (JNA). The tumor was removed completely via coblator-assisted endoscopic sinus surgery. The patient was asymptomatic at a 2-year follow-up.

    Conclusion: Nasal AML located in the posterior nasal cavity in a male patient can mimic the presentation of JNA. A computed tomography scan of the paranasal sinuses played an important role in differentiating nasal AML from JNA. The coblator-assisted endoscopic technique is useful in controlling intraoperative hemostasis in the removal of a suspicious vascular tumor.

    Matched MeSH terms: Angiomyolipoma
  11. Kadhim Jawad Obaid, Yahya Mohammad Arpine, Nor Salmah Bakar, Marlina Tanty Ramli Hamid, Ahmed Ramzi Yusof
    MyJurnal
    Intramuscular shoulder angiomyolipomas are very rare. We report a case in a 22-year-old male with a well circumscribed lesion located on the back of the shoulder. This lesion, differs from renal angiomyolipoma in terms of non-association with tuberous sclerosis, circumscription and male predominance. Another characteristic feature is the absence of epithelioid cells. Differential diagnosis includes lipoma, angiolipoma, angioleiomyoma, hemangioma, myolipoma and liposarcoma. It is distinguished from the above mentioned entities by the presence of a combination of thick-walled blood vessels, smooth muscle and fat.
    Matched MeSH terms: Angiomyolipoma
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