The Evolution of Renal Angiomyolipomas in Patients with Tuberous Sclerosis

Baal, Jeff G. van; Smits, N. J.; Keeman, J. N.; Lindhout, Dick; Verhoef, Senno

doi:10.1016/s0022-5347(17)32809-4

Cited by 128 publications

(59 citation statements)

References 11 publications

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“…Tumor size is the most commonly used predictor for hemorrhagic risk, although such decision algorithms are based upon data gathered primarily from sporadic AMLs. TSCassociated AMLs, however, are likely biologically distinct from their sporadic counterparts, and while some studies have corroborated the use of 4 cm diameter as a threshold for intervention in the setting of TSC as at risk for hemorrhage [14] , other reports have found no size association until the AMLs are on the order of 10 cm [4] . Alternative biomarkers have therefore been sought to prognosticate risk of hemorrhage.…”

Section: Discussionmentioning

confidence: 99%

Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis

Sheth¹,

Feldman²,

Paul³

et al. 2016

WJR

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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

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Section: Discussionmentioning

confidence: 99%

Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis

Sheth¹,

Feldman²,

Paul³

et al. 2016

WJR

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“…40% to 80% of the patients with tuberous sclerosis present with renal angiomyolipoma with multiple bilateral asymptomatic tumors, which may be associated with cysts and more rarely renal carcinoma. 7,8 The angiomyolipoma may affect the perirenal fat and local lymphatic vessels, and the presence of tumors in extra renal sites is considered multicentric and not metastatic. Multifocal angiomyolipomas have been reported in lymph nodes, spleen, liver, inferior vena cava and retroperitoneum.…”

Section: Discussionmentioning

confidence: 99%

Multifocal angiomyolipoma involving kidney and regional lymph nodes in patient with tuberous sclerosis complex- A Rare case with review of literature

Mylarappa¹,

Patil²,

Puvvada³

et al. 2015

Asian J Med Sci

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“…17 Between 40% and 80% of individuals with TSC present renal angiomyolipoma with multiple bilateral asymptomatic tumors, which may be associated with cysts and, less frequently, with renal carcinoma. 17,18,20 …”

Section: A B Cmentioning

confidence: 99%

Tuberous sclerosis complex diagnosed from oral lesions

et al. 2013

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CONTEXT: Tuberous sclerosis complex (TSC) is a genetic disease in the group known as neurocutaneous syndromes, with dominant autosomal inheritance. It is characterized by skin and adnexal lesions and central and peripheral nervous system tumors, with neurological and psychiatric findings. It may affect the heart, kidneys, eyes, face, bones, lungs, stomach and dentition. CASE REPORT: We present the case of a 66-year-old man with dermatological signs that included hypopigmented maculae, confetti-like lesions, shagreen plaque, angiofibromas on nasolabial folds, neck and back, nail dystrophy and periungual fibromas on fingers and toes. An electroencephalogram produced normal results, but magnetic resonance imaging showed a nodular image measuring 1.2 x 1.0 cm close to the Monro foramen, which was similar to cerebral parenchyma and compatible with a subependymal giant-cell astrocytoma. A conservative approach was taken, through control imaging examinations on the lesion for seven years, with absence of any expansive process or neurological symptoms. Abdominal ultrasonography revealed a solid, heterogenic and echogenic mass with a calcified focus, measuring 4.6 x 3.4 cm, in the right kidney, compatible with angiomyolipoma. The patient was treated by means of complete nephrectomy because of malignant areas seen on histopathological examination and died one month after the procedure. This case report illustrates the importance of oral clinical findings such as dental enamel pits and angiofibromas in making an early diagnosis of TSC, with subsequent screening examinations, treatment and genetic counseling. RESUMO CONTEXTO:O complexo esclerose tuberosa é uma doença genética pertencente ao grupo das facomatoses, de herança autossômica dominante, caracterizada por lesões acometendo pele e anexos, além de tumores do sistema nervoso central e periférico, com presença de achados neurólogicos e psiquiátricos, podendo acometer coração, rins, olhos, dentes, mucosa oral e outros órgãos. RELATO DE CASO: Apresentamos o caso de um paciente do sexo masculino, 66 anos de idade, que apresentava diversos sinais dermatológicos, como máculas hipopigmentadas, lesões em confete, placas tipo shagreen, angiofibromas nas regiões cervical, nasolabial e dorsal, distrofias ungueais e fibromas nos dedos das mãos e pés. Embora o encefalograma não tenha mostrado alterações, a ressonância nuclear magnéti-ca apresentou imagem nodular com aspecto semelhante ao parênquima cerebral, medindo 1.2 x 1.0 cm e próxima ao forame de Monro, compatível com astrocitoma subependimário de células gigantes. Abordagem conservadora foi escolhida por meio de controle imaginológico da lesão por sete anos, com ausência de sintomas neurológicos ou processos expansivos. A ultrassonografia de abdômen total revelou massa medindo 4.6 x 3.4 cm, com áreas ecogênicas e heterogêneas, apresentando focos de calcificação no rim direito, com padrão semelhante ao de um angiomiolipoma. O paciente foi submetido a nefrectomia total, devido à presença de áreas de malignidade ao exam...

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The Evolution of Renal Angiomyolipomas in Patients with Tuberous Sclerosis

Cited by 128 publications

References 11 publications

Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis

Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis

Multifocal angiomyolipoma involving kidney and regional lymph nodes in patient with tuberous sclerosis complex- A Rare case with review of literature

Tuberous sclerosis complex diagnosed from oral lesions

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