Prevalence of sporadic renal angiomyolipoma: a retrospective analysis of 61,389 in- and out-patients

Fittschen, Astrid; Wendlik, Inka; Oeztuerk, Suemeyra; Kratzer, Wolfgang; Akinli, A. S.; Haenle, Mark Martin; Graeter, Tilmann

doi:10.1007/s00261-014-0129-6

Cited by 125 publications

(85 citation statements)

References 26 publications

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“…The authors found an overall prevalence of 0.44%, predominated by females (68%), 57% of cases involved the right kidney, 61% cases were followed over a mean period of 25 months and showed no significant increase in tumor size during the period of follow up. 12 Predominance in females could be explained by the possible involvement of female hormones in the initiation and progression of tumor genesis. 3,5,13 Moreover, greater risk of tumor rupture and bleeding has been established during pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Clinical Presentation, Management, and Outcome of Patients with Incidental Renal Angiomyolipoma in Qatar

Al-Thani¹,

El‐Menyar²,

Al-Sulaiti³

et al. 2014

Oman Med J

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Renal angiomyolipoma is an uncommon benign tumor with an overall prevalence of 0.4% in Qatar. It has characteristic clinical features and its recognition is often challenging for proper clinical diagnosis and treatment in asymptomatic patients. Asymptomatic patients need regular radiological surveillance. In contrast, surgical interventions are mainly required in symptomatic patients with increased tumor size (≥4cm). Timely diagnosis and treatment is necessary to avoid complications such retroperitoneal hemorrhage and renal impairment.

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Section: Discussionmentioning

confidence: 99%

Clinical Presentation, Management, and Outcome of Patients with Incidental Renal Angiomyolipoma in Qatar

Al-Thani¹,

El‐Menyar²,

Al-Sulaiti³

et al. 2014

Oman Med J

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“…Due to the infrequent occurrence of bilateral involvement in sporadic AML (1.5% of sporadic cases), this feature raises the clinical suspicion for TS [Fittschen et al, 2014]. The only unusual phenotype in our adult patient was the development of bilateral renal AML.…”

Section: Discussionmentioning

confidence: 83%

Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting <b><i>NUP98</i></b>

Thibodeau

Steinraths²,

Brown³

et al. 2017

Cytogenet Genome Res

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A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the age of 3 years. Whole-genome sequencing was performed on genomic maternal DNA isolated from blood. A targeted de novo assembly was then conducted with ABySS for chromosomes 11 and 12. Sanger sequencing was used to validate the translocation breakpoints. As a result, genomic characterization of chromosomes 11 and 12 revealed that the 11p breakpoint disrupted the NUP98 gene in intron 1, causing a separation of the promoter and transcription start site from the rest of the gene. The translocation breakpoint on chromosome 12q was located in a gene desert. NUP98 has not yet been associated with renal AML pathogenesis, but somatic NUP98 alterations are recurrently implicated in hematological malignancies, most often following a gene fusion event. We also found evidence for complex structural events involving chromosome 12, which appear to disrupt the TDG gene. We identified a TDGP1 partially processed pseudogene at 12p12.1, which adds complexity to the de novo assembly. In conclusion, this is the first report of a germline constitutional structural chromosome rearrangement disrupting NUP98 that occurred in a generally healthy woman with bilateral renal AML.

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“…A leggyakoribb típusok az angiomyolipoma (AML), az adenoma és az oncocytoma. A fenti csoportból az AML-lel találkozunk legtöbbször, jellegzetesen középkorú nők [12] és sclerosis tuberosá-ban szenvedő gyermekek között [13]. A daganat rendellenes erekből, simaizomsejtekből és zsírból, illetve ezek különböző arányú keverékéből áll.…”

Section: áLtalános Megfontolásokunclassified

Thermoablatiós lehetőségek a benignus térfoglaló képletek gyógyításában

2016

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Bevezetés: Bizonyos jóindulatú tumorok méretükből és elhelyezkedésükből fakadóan tartós diszkomfort érzést, súlyo-sabb esetben rupturálva végzetes kimenetelű vérzést is okozhatnak. Megoldásként eddig a daganatok obszervációja, indokolt esetben a sebészeti beavatkozás, válogatott esetekben pedig a transarterialis embolisatio adódott. Célkitűzés: Célkitűzésünk az volt, hogy ismertessük a jóindulatú elváltozások thermoablatiós kezelési lehetőségeit. Módszer: A Semmelweis Egyetem Transzplantációs és Sebészeti Klinikáján kezelt négy betegen végzett beavatkozásokat ismertetjük. Egy esetben pajzsmirigy-adenoma, egyben vese-angiomyolipoma kezelése történt rádiófrekvenciás készülék-kel, két betegnél pedig májhaemangioma-ablatióra került sor mikrohullámú antenna segítségével. Eredmények: A kezelés minden esetben szövődménymentesnek bizonyult, a kontrollvizsgálatoknál a legtöbb elváltozás mérete csökkent. Az átlagos volumencsökkenés 32,7% volt. A kezelés hatására az elváltozások kontrasztanyag-halmozása is csökkent. A halmozást mutató tumortérfogat-csökkenés átlagosan 75,3% volt. Következtetések: A thermoablatiós módszerek a fent említett benignus szöveti természetű daganatok esetében biztonsággal alkalmazhatók, az eljárás technikájából fakadóan kiváló kozmetikai eredménnyel, rövidebb kórházi benntartózkodással és lábadozási idővel járnak. Orv. Hetil., 2016, 157(51), 2040-2047. Kulcsszavak: intervenciós radiológia, ablatio, benignus tumor Thermoablation therapy in the treatment of benign lesionsIntroduction: Depending on their size and location, some benign tumors can cause prolonged discomfort and even rupture and fatal bleeding in severe cases. Hitherto the therapeutic strategies for such lesions were observation, surgery and in selected cases transarterial embolization. Aim: Our aim was to present the possibilities of thermoablation for treating lesions. Method: Here we present interventions of four patients in Semmelweis University Department of Transplantation and Surgery. A thyroid adenoma and a kidney angiomyolipoma were treated with radiofrequency ablation. Two patients with a liver haemangioma were treated with microwave thermoablation technique. Results: Complications were not observed in any of the cases. In most cases, the size of the treated lesions decreased. The mean decrease in volume was 32.7%. The contrast enhancement of the lesions also decreased, the mean reduction in contrast enhancing volume was 75.3%. Conclusions: Thermoablational procedures for the benign tumors presented above are safe. The therapy shows excellent cosmetic results, a shorter hospital stay and quicker recovery.

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Prevalence of sporadic renal angiomyolipoma: a retrospective analysis of 61,389 in- and out-patients

Abstract: The analysis of 61,389 patients revealed a higher prevalence of sporadic angiomyolipoma than previously observed in smaller studies. There was a significantly higher prevalence in females than in males. Multiple and bilateral angiomyolipomas were rare, and tumor growth was marginal.

Cited by 125 publications

References 26 publications

Clinical Presentation, Management, and Outcome of Patients with Incidental Renal Angiomyolipoma in Qatar

Clinical Presentation, Management, and Outcome of Patients with Incidental Renal Angiomyolipoma in Qatar

Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting <b><i>NUP98</i></b>

Thermoablatiós lehetőségek a benignus térfoglaló képletek gyógyításában

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