Renal Involvement in Tuberous Sclerosis

Bernstein, Jay; Robbins, Thomas O.

doi:10.1111/j.1749-6632.1991.tb37746.x

Cited by 102 publications

(68 citation statements)

References 44 publications

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“…Lastly, tuberous sclerosis may have renal cysts, but we did not find epithelium with the large voluminous amounts of cytoplasm in the cysts of these 11 cases. 11 There remains the question of whether these cysts represent entrapped renal tubular elements. We believe they do not.…”

Section: Discussionmentioning

confidence: 99%

Cystic angiomyolipoma of the kidney: a clinicopathologic description of 11 cases

2006

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This report deals with 11 examples of renal angiomyolipomas (AML) which appear to include an epithelial element as a part of the neoplasm in the form of gross or microscopic cysts-usually both. There were seven females and four males between the ages of 20 and 70 years with mean age of 45 years. Three of these were known to be symptomatic: intermittent flank pain and gross hematuria for 2 months; recurrent hematuria both before and after flank trauma and a third patient with acute abdomen due to a ruptured tumor blood vessel. Cysts were described in three of the six cases where radiographic data were available. Seven tumors were in the right kidney and four in the left. In gross descriptions, cysts were mentioned in seven and they ranged from 6.0 to 2.0 cm with a median and mean maximal diameter of 5.0 and 4.0 cm, respectively. Microscopically, virtually all of the tumors included multiple smaller cysts and these were lined by flat, cuboidal or columnar epithelium and occasionally hobnail epithelium. There was usually a subepithelial collar of poorly differentiated cells, but the solid element of all tumors was myomatous angiomyolipoma; only one case had any adipose tissue. A dominant histological feature was the prominent lymphatic channels-identical to those of lymphangiomyomas and myomatous or triphasic AMLs. They are much more conspicuous in these cystic cases. Immunohistochemically, all tumors tested were reactive with actin, desmin and HMB-45, with the latter being more intensely positive in the subepithelial collars. Estrogen and progesterone receptors were usually positive, also. The behavior of these lesions appears to be no different from that of other AMLs.

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Section: Discussionmentioning

confidence: 99%

Cystic angiomyolipoma of the kidney: a clinicopathologic description of 11 cases

2006

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“…The constellation of lesions developed by these patients includes cerebral tubers, ungual fibromas, fibrous forehead plaques, and rhabdomyomas (38). The kidney is most commonly affected by the presence of angiomyolipomas, cysts, and less frequently carcinomas (49). In 1991, Gomez (47) published a list of clinical diagnostic criteria of the disease, including, within the "definitive" category, the presence of multiple angiomyolipomas.…”

Section: Discussionmentioning

confidence: 99%

Concurrent Angiomyolipoma and Renal Cell Neoplasia: A Study of 36 Cases

et al. 2001

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Little is known about the association of angiomyolipoma and adult renal-cell neoplasia. We studied the clinicopathologic features of 36 patients with concurrent angiomyolipoma and renal-cell neoplasia from the consultation and surgical pathology files of nine institutions. HMB-45 immunoreactivity was analyzed in both neoplasms. Twenty-five sporadic cases of patients with angiomyolipoma and renal-cell neoplasia and 11 cases of patients with tuberous sclerosis, as defined by Gomez' criteria, had mean ages of 59 and 53 years, respectively, and female-male ratios of 2:1 and 5:1, respectively. The mean size of the angiomyolipomas was 1 cm in the sporadic cases and 3 cm in those patients with tuberous sclerosis (medians: 0.5 and 3 cm, respectively, P ‫؍‬ .002). The mean sizes of the renal-cell neoplasms were 5 cm in sporadic cases and 6 cm in patients with tuberous sclerosis (medians: 4 and 5 cm, respectively; P ‫؍‬ .88). In both clinical settings, angiomyolipoma was more commonly the incidental tumor. Clear-cell (conventional) renal-cell carcinoma was the most common renal-cell neoplasm in both groups of patients, accounting for approximately two thirds of the tumors. In patients with tuberous sclerosis, 27% of renal-cell neoplasms were oncocytomas, compared with 8% in sporadic cases (P ‫؍‬ .15). Papillary neoplasia, chromophobe, and collecting-duct renal-cell carcinoma were found only in sporadic cases. All of the 22 renal-cell neoplasms studied were negative for HMB-45, whereas all 25 angiomyolipomas studied were positive.

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“…Angiomyolipomas occur in 55-80 % of patients [4,5,11] and are the most common cause of TSCrelated morbidity in adults. They often appear as multiple and bilateral tumors with rapid growth in childhood and adolescence that stabilizes throughout adulthood [9,[12][13][14][15][16][17]. It has even been suggested that angiomyolipomas might appear as early as infancy [18].…”

Section: Angiomyolipomamentioning

confidence: 99%

Tuberous sclerosis complex: the past and the future

2014

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Renal lesions represent the second most significant cause of morbidity and mortality in patients with tuberous sclerosis complex (TSC). Recent advances in the understanding of the pathophysiology of TSC have led to the exploration of new potential therapeutic targets. Clinical trials with mammalian target of rapamycin (mTOR) inhibitors have demonstrated promising results for several indications, such as renal angiomyolipoma, subependymal giant cell astrocytoma, lymphangioleiomyomatosis and facial angiofibromas. Currently, there is a scarcity of natural history data and randomized, placebo-controlled clinical trials on TSC. Recently, however, recommendations for the diagnostic criteria, surveillance, and management of TSC patients have been updated. This review focuses on these novel recommendations and highlights the need for multidisciplinary follow-up of this multi-systemic disease.

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Renal Involvement in Tuberous Sclerosis

Cited by 102 publications

References 44 publications

Cystic angiomyolipoma of the kidney: a clinicopathologic description of 11 cases

Cystic angiomyolipoma of the kidney: a clinicopathologic description of 11 cases

Concurrent Angiomyolipoma and Renal Cell Neoplasia: A Study of 36 Cases

Tuberous sclerosis complex: the past and the future

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