Tuberous sclerosis complex and renal angiomyolipoma Collective review

Bissada, Nabil K.; Smith, Philip L.; White, Harold J.; Barbour, Galen L.; Sun, Chao; Redman, John F.

doi:10.1016/0090-4295(75)90607-x

Cited by 64 publications

(25 citation statements)

References 60 publications

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“…In contrast, angiomyolipomas of the kidney are found in 40-80% of tuberous sclerosis patients and multiple bilateral angiomyolipomas are reported to occur exclusively in these patients [2,3,[10][11][12]. The previously reported association of angiomyolipomas with LAM was 15-30% [2,5].…”

Section: Discussionmentioning

confidence: 75%

“…As most are asymptomatic, many may go undocumented. The majority of the literature proposes that renal angiomyolipomas in association with pulmonary LAM is a forme fruste of tuberous sclerosis [1][2][3][15][16][17]. Although LAM is a distinct clinical entity, the same pathological findings can be seen in association with tuberous sclerosis in 1% of these patients [1,18].…”

Section: Discussionmentioning

confidence: 92%

“…Although LAM is classified as a distinct clinical entity, the same pathological process can be seen in approximately 1% of patients with tuberous sclerosis [1]. Renal angiomyolipomas have been found in 40-80% of tuberous sclerosis patients [2][3][4]. However, renal angiomyolipomas are being found increasingly in patients with LAM (15-30%) [2,5].…”

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confidence: 99%

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Extrathoracic angiomyolipomas in lymphangioleiomyomatosis

Maziak

Kesten²,

Rappaport³

et al. 1996

Eur Respir J

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E Ex xt tr ra at th ho or ra ac ci ic c a an ng gi io om my yo ol li ip po om ma as s i in n l ly ym mp ph ha an ng gi io ol le ei io om my yo om ma at to os si is s D.E. Maziak, S. Kesten, D.C. Rappaport, J. MaurerExtrathoracic angiomyolipomas in lymphangioleiomyomatosis. D.E. Maziak, S. Kesten, D.C. Rappaport, J. Maurer. ERS Journals Ltd. 1996. ABSTRACT: Pulmonary lymphangioleiomyomatosis (LAM) is a rare disorder that affects women and can lead to serious respiratory impairment. Since Bourneville's tuberous sclerosis (TS) was first reported, the striking similarities between the two entities have led many to believe that LAM is a forme fruste of TS. This is suggested by reports that angiomyolipomas, rare tumours in themselves, are reported in 40-80% of TS patients and occur in 15-30% of LAM patients. A retrospective chart review was conducted of 14 patients that presented to our institution with a diagnosis of LAM. We sought to document the clinical manifestations, particularly the incidence and location of extrathoracic tumours, in order to further support the hypothesis that LAM is a forme fruste of TS.Twelve patients had premenopausal onset of symptoms and two postmenopausal. The diagnosis was confirmed histologically (n=12) and/or by computed tomography (CT) scan of the thorax (n=12). Imaging investigations revealed extrathoracic tumours in 12 of 14 patients (86%). Eight of the 14 patients (57%) had renal tumours consistant with angiomyolipomas (bilateral in five patients). Only one patient had renal symptoms (flank pain and haematuria). All had normal serum creatinine, one had a reduced creatinine clearance. Extrathoracic nonrenal tumours were discovered in the pancreas, adrenals and uterus, findings previously unreported in LAM.In summary, the incidence of extrathoracic tumours in lymphangioleiomyomatosis patients is much higher than previously reported in the literature. This increased association supports the theory that lymphangioleiomyomatosis and tuberous sclerosis represent part of a spectrum of a similar disease process. Eur Respir J., 1996, 9, 402- Pulmonary lymphangioleimyomatosis (LAM) is a rare disorder characterized by proliferation of smooth muscle elements of the bronchioles, venules and lymphatics in the lung parenchyma. Smooth muscle proliferation can also be found in extrapulmonary sites. Although LAM is classified as a distinct clinical entity, the same pathological process can be seen in approximately 1% of patients with tuberous sclerosis [1]. Renal angiomyolipomas have been found in 40-80% of tuberous sclerosis patients [2][3][4]. However, renal angiomyolipomas are being found increasingly in patients with LAM (15-30%) [2,5].We have noticed a number of patients with LAM to have associated tumours of the kidney as well as additional extrathoracic masses. Such patients appeared to be asymptomatic from their extrapulmonary lesions. We suspect that the current literature underestimates the association between the two which, because of their asymptomatic nature, may be overlooked. With ...

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Section: Discussionmentioning

confidence: 75%

Section: Discussionmentioning

confidence: 92%

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Extrathoracic angiomyolipomas in lymphangioleiomyomatosis

Maziak

Kesten²,

Rappaport³

et al. 1996

Eur Respir J

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“…The association of these tumors with tuberous sclerosis is well established and bilateral or multiple renal AMLs are often associated with tuberous sclerosis (40%) (17). The incidence of tuberous sclerosis with hepatic AML is only about 6 to 10% (2,18) and the majority of the hepatic lesions are solitary.…”

Section: Discussionmentioning

confidence: 99%

Multiple Angiomyolipomata of the Liver: A Case Report

et al. 2002

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Angiomyolipoma (AML) is a rare benign tumor that occurs most commonly in the kidney. Occasionally it may be found in the liver. Lesions in the liver are usually solitary. Multiple AMLs are extremely rare and are typically seen in patients with tuberous sclerosis. We now report an unusual case of a 46-year-old woman with multiple hepatic AMLs. There were more than 15 lesions distributed predominantly in the right hepatic lobe. The tumors ranged from 0.2 to 6 cm in size and consisted of a variable admixture of proliferating blood vessels, adipose tissue, and smooth muscle. There was no clinical evidence of tuberous sclerosis in this patient. Polymerase chain reaction amplification of the highly polymorphic human androgen receptor gene (HU-MARA) was performed and the pattern of X chromosome inactivation was analyzed. Three of the five representative AML nodules showed a preferential loss of one of the two HUMARA alleles indicating a clonal proliferation with involvement of different alleles. Histologic examination of the corresponding lesions showed clonal lesions to be predominantly composed of epithelioid myoid cells while the polyclonal lesions were predominantly composed of adipose tissue. While the histologic diagnosis of AML in a surgical resection specimen is often straightforward, the radiographic, cytologic and intraoperative interpretation of a case with multiple lesions presents a considerable challenge.

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“…Those occurring in patients without tuberous sclerosis are large, unilateral and symptomatic [3][4][5].…”

Section: Discussionmentioning

confidence: 99%