Disease relevance of Angiomyolipoma

• Although there was overlap in the spectrum of many clinical features of patients with TSC1 versus TSC2 mutations, some features (grade 2-4 kidney cysts or angiomyolipomas, forehead plaques, retinal hamartomas, and liver angiomyolipomas) were very rare or not seen at all in TSC1 patients [1].
• HMB-45 positivity has been seen in two other TSC lesions: renal angiomyolipomas and pulmonary lymphangiomyomatosis [2].
• Renal angiomyolipomas are highly vascular tumors that occur sporadically, in women with pulmonary lymphangiomyomatosis (LAM), and in tuberous sclerosis complex (TSC) [3].
• Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors [4].
• Multifocal renal cell carcinomas (RCCs), together with angiomyolipomas (AMLs) and renal cysts, were identified in early adult life in two sisters with tuberous sclerosis (TSC) [5].

Psychiatry related information on Angiomyolipoma

• RESULTS: Epilepsy, depigmented spots, and periventricular calcification and cortical tubers were diagnosed in all the 4 patients, cardiac rhabdomyoma and angiomyolipoma of the kidneys in 3, and mental retardation and forehead fibroma in 2 [6].

High impact information on Angiomyolipoma

• Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma [7].
• A chi(2) analysis was used to examine the association between IFN-gamma allele 2 and the development of kidney angiomyolipomas (KAMLs) in this TSC2 cohort [8].
• Renal angiomyolipomas, which are found in most tuberous sclerosis patients, also occur in 60% of sporadic LAM patients [9].
• Loss of heterozygosity (LOH) in the chromosomal region for the TSC2 gene occurs in 60% of TSC-associated angiomyolipomas [10].
• One angiomyolipoma showed allele loss for the markers ABO, DBH and D9S66, but not for D9S149 or D9S67 [11].

Chemical compound and disease context of Angiomyolipoma

• Given that PDGFRbeta signaling is inhibited by STI571, we found that SV7tert human angiomyolipoma cells are sensitive to STI571 [12].
• Epinephrine enhanced renal angiography in the diagnosis of hamartoma (angiomyolipoma): a reevaluation [13].
• Exophytic noninvasive growth pattern of renal angiomyolipomas: implications for nephron sparing surgery [14].
• Another melanoma-associated antigen, CD63 (NKI/C3), also was present in all the tumors, a finding suggesting that angiomyolipoma has features in common with melanoma beyond premelanosomal structures [15].
• The responsiveness of angiomyolipoma cells to estradiol may be related to the underlying reasons that LAM affects primarily women [16].
• This study showed sustained regression of renal angiomyolipomas in patients with tuberous sclerosis or sporadic LAM receiving 2 years of sirolimus treatment [17].

Biological context of Angiomyolipoma

• We previously found TSC2 loss of heterozygosity in 7 of 13 (54%) of angiomyolipomas from sporadic LAM patients, suggesting that LAM and TSC could have a common genetic basis [9].
• We conclude that patients with sporadic LAM, including those with renal angiomyolipomas, do not have a high frequency of germline mutations in the coding region of TSC2 [18].
• Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas [19].
• Recent advances that have affected management include improved understanding of tuberous sclerosis complex and angiomyolipoma genetics, the identification of molecular markers that facilitate histopathological diagnosis, and the refinement of embolization and partial nephrectomy techniques [20].
• In both, the tumor cells lacked keratin expression and were positive for vimentin and HMB 45, an antibody recognizing perivascular or myoid cell proliferation such as lymphangioleiomyomatosis and angiomyolipoma [21].

Anatomical context of Angiomyolipoma

• To gain further insight into angiomyolipomas, we have generated the first human angiomyolipoma cell line by sequential introduction of SV40 large T antigen and human telomerase into human angiomyolipoma cells [22].
• The use of subselective renal artery embolotherapy with absolute alcohol, using balloon occlusion to prevent backflow, is described in treating three hemorrhaging angiomyolipomas in two patients with tuberous sclerosis [23].
• Infiltrating renal angiomyolipoma into ascending colon associated with hepatic involvement in a patient with tuberous sclerosis [24].
• A case of an angiomyolipoma of the large intestine occurring in a 55-year-old man without evidence of tuberous sclerosis is reported [25].
• We report a case of bilateral renal angiomyolipoma with thrombosis of the bilateral renal veins and inferior vena cava [26].

Gene context of Angiomyolipoma

• Renal angiomyolipoma cells produce the potent angiogenic factor VEGF [27].
• Immunohistochemical and reverse transcription-polymerase chain reaction expression analysis of tyrosinase and microphthalmia-associated transcription factor in angiomyolipomas [28].
• Estrogen receptor is significantly associated with the epithelioid variants of renal angiomyolipoma: a clinicopathological and immunohistochemical study of 67 cases [29].
• We found that TS model cells derived from tuberin heterozygous mice and from a human renal angiomyolipoma are highly sensitive to PDGFR antagonists and that these cells express PDGFRbeta [12].
• Melan-A was expressed by 25 of 29 angiomyolipomas and 0 of 23 non-angiomyolipomas (sensitivity 86%, specificity 100%) [30].

Analytical, diagnostic and therapeutic context of Angiomyolipoma

• CONCLUSIONS: Although some cases of angiomyolipoma may require complete nephrectomy, most can be managed by conservative nephron sparing approaches [20].
• In 1986, 23 patients with renal angiomyolipomas as part of tuberous sclerosis were assessed by ultrasonography [31].
• PURPOSE: To evaluate the efficacy of superselective embolotherapy of renal angiomyolipomas with a 1:3 mixture of iodized oil and absolute ethanol as embolic material [32].
• In addition, we used Northern blot analysis to demonstrate that renal angiomyolipoma cells express the potent angiogenesis stimulator vascular endothelial growth factor (VEGF) [27].
• We also performed RT-PCR assays for gp-100 and Melan-A in 4 of the 18 angiomyolipoma samples and in three normal kidney samples [33].

References