Constant allelic alteration on chromosome 16p (<i>TSC2</i> gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma

Pan, C. C.; Chung, Ming Yi; Ng, Kwai Fong; Liu, C. Y.; Wang, J. S.; Chai, Chee‐Yin; Huang, Shih‐Han; Chen, P. C.H.; Ho, Donald Ming Tak

doi:10.1002/path.2289

Cited by 185 publications

(118 citation statements)

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“…Alterations of the TSC genes have been demonstrated in a significant number of PEComas, and they seem to have an important role in the regulation of the Rheb/mTOR (mammalian target of rapamycin)/p70S6K pathway (14,15). As mentioned above, in this study, all 4 patients with TSC-LAM and 3 of 10 patients with S-LAM had R-AMLs.…”

Section: Discussionsupporting

confidence: 63%

Clinical Features of Lymphangioleiomyomatosis Complicated by Renal Angiomyolipomas

et al. 2011

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Objective Renal angiomyolipomas (R-AMLs) are major complications of lymphangioleiomyomatosis (LAM). The objective of this study was to better understand the influence of R-AMLs in patients with LAM on the prognosis and other clinical factors related to respiration, and to investigate the management of RAMLs in patients with LAM. Patients and MethodsWe retrospectively investigated the clinical features of 7 patients with LAM [4 were TSC (Tuberous sclerosis complex)-LAM and 3 were S (sporadic)-LAM] complicated by R-AMLs admitted to our hospital from 1997 to 2008. Results All patients were females and the mean age at diagnosis of LAM was 40.7 years (31.7 years for TSC-LAM and 52.7 years for S-LAM). Although 5 patients had symptoms related to R-AMLs, only 1 patient experienced symptoms related to R-AMLs at the time of diagnosis. Five patients had bilateral and 2 patients had unilateral R-AMLs. R-AMLs ruptured in 4 cases (3 patients were TSC-LAM) including 2 patients in whom they ruptured bilaterally, and who underwent bilateral nephrectomy. In 1 case, unilateral R-AMLs grew larger and appeared on the other side during the follow-up period. Conclusion Although only rare cases of LAM show symptoms related to R-AMLs initially, R-AMLs are a notable complication. To avoid nephrectomy, R-AMLs should be diagnosed when they are small and should be followed up carefully by periodic echograms or CT scans.

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Section: Discussionsupporting

confidence: 63%

Clinical Features of Lymphangioleiomyomatosis Complicated by Renal Angiomyolipomas

et al. 2011

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“…17,21,22 The PEComa family includes renal and hepatic AMLs, lymphangiomyomatosis, clear cell 'sugar' tumor of the lung, and a group of similar lesions seen at other sites. 23 Cysts and multiple AMLs are the most common renal manifestation in TSC.…”

Section: Discussionmentioning

confidence: 99%

Epithelioid angiomyolipoma of the kidney: pathological features and clinical outcome in a series of consecutively resected tumors

et al. 2013

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The 2004 World Health Organization classification of tumors defines epithelioid angiomyolipoma of kidney as a potentially malignant mesenchymal neoplasm with reported metastasis in approximately one-third of the cases. However, this conclusion was based primarily on individual case reports and small retrospective series. More recently reported larger series have shown varying results. We reviewed 437 consecutive renal angiomyolipomas with primary resection at three tertiary-care institutions with high nephrectomy volumes. Only tumors showing 480% epithelioid histology were included in this study. Tumors resected elsewhere and reviewed in consultation were not included. Twenty of these 437 (4.6%) were classified as epithelioid angiomyolipoma. The female to male ratio was 11:9, mean age 49.7 (range, 30-80) years, and mean tumor size 8.7 (range, 1-25) cm. Microscopic tumor necrosis was present in 10 (50%) tumors and mitotic activity (range, o1-5/10 high power fields) in 8 (40%); atypical mitoses were seen in only 1 (5%) tumor. Pleomorphic ganglion-like or multinucleated giant cells were seen in 18 (90%) tumors. With a mean follow-up of 82.5 (range, 1-356) months, seventeen patients were alive with no-evidence-of-disease at the time of last follow-up; two patients died of unrelated causes with no-evidence-of-disease, and one patient (5%) developed distant metastases. Our data, based on consecutively resected angiomyolipomas with long clinical follow-up, suggests that epithelioid angiomyolipomas constitute a small proportion of all angiomyolipomas, and the rate of aggressive behavior among epithelioid angiomyolipomas, even when showing morphologic features previously reported to portend aggressive clinical behavior, is very low.

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“…Loss of heterozygosity of TSC2 has been reported in a few cases of sporadic epithelioid angiomyolipoma. 9,14,15 Tumors composed of a homogeneous population of polygonal cells with deeply eosinophilic cytoplasm have been identified in patients with and without tuberous sclerosis and reported as oncocytoma-like angiomyolipoma. 16 Angiomyolipoma containing epithelial cysts is the most recently described variant.…”

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confidence: 99%

Cathepsin K expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney

et al. 2012

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The perivascular epithelioid cell (PEC) is a unique cell type coexpressing contractile proteins (mainly a-smooth muscle actin), melanocytic markers, including microphthalmia-associated transcription factor (MITF), and estrogen and progesterone receptors. It is constantly present in a group of tumors called PEComas. Renal PEComas include the common angiomyolipoma as well as less common lesions such as microscopic angiomyolipoma, intraglomerular lesions, angiomyolipoma with epithelial cysts, epithelioid angiomyolipoma, oncocytoma-like angiomyolipoma and lymphangioleiomyomatosis of the renal sinus. It has been demonstrated that most of these lesions are determined by mutations affecting genes of the tuberous sclerosis complex, tuberous sclerosis 1 (TSC1) and tuberous sclerosis 2 (TSC2), with eventual deregulation of the RHEB/MTOR/RPS6KB2 pathway, and it has been observed that some PEComas regressed during sirolimus therapy, an MTOR inhibitor. Recently, overexpression of MITF has been related to the expression of the papainlike cysteine protease cathepsin K in osteoclasts where it has inhibited MTOR. The aim of this study is to evaluate cathepsin K immunohistochemically in the entire spectrum of PEComa lesions in the kidney. The study population consisted of 84 renal PEComa lesions, including 5 composed predominantly of fat (lipoma-like angiomyolipoma), 15 almost exclusively composed of spindle-shaped smooth muscle cells (leiomyoma-like angiomyolipoma) and 31 common angiomyolipomas composed of a mixture of fat, spindle and epithelioid smooth muscle cells, and abnormal thick-walled blood vessels, 15 microscopic angiomyolipomas, 5 intraglomerular lesions, 2 oncocytoma-like angiomyolipomas, 8 epithelioid angiomyolipomas, 2 angiomyolipomas with epithelial cysts and 1 example of lymphangioleiomyomatosis of the renal sinus. In all of the renal PEComas, cathepsin K was found to be constantly and strongly expressed and seems to be a more powerful marker than other commonly used markers for their identification, especially to confirm the diagnosis on needle biopsies. Modern Pathology (2012) 25, 100-111; doi:10.1038/modpathol.2011.136; published online 26 August 2011Keywords: angiomyolipoma; cathepsin K; epithelioid angiomyolipoma; PEC; PEComa; tuberous sclerosisThe perivascular epithelioid cell (PEC) is a unique cell type coexpressing contractile proteins (mainly a-smooth muscle actin (a-SMA)), melanocytic markers, including microphthalmia-associated transcription factor (MITF), and estrogen and progesterone receptors. The PEC is constantly present in a group of tumors called PEComas including angiomyolipoma, clear-cell 'sugar' tumor of the lung and extrapulmonary sites, lymphangioleiomyomatosis, clear-cell myomelanocytic tumor of the falciform ligament and ligamentum teres, and rare clear-cell tumors of other anatomical sites. PEComas of the kidney include the common angiomyolipoma, microscopic angiomyolipoma, intraglomerular lesions, angiomyolipoma with epithelial cysts, epithelioid angiomyolipoma (pure epithelioid PEComa),

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Constant allelic alteration on chromosome 16p (TSC2 gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma

Cited by 185 publications

References 38 publications

Clinical Features of Lymphangioleiomyomatosis Complicated by Renal Angiomyolipomas

Clinical Features of Lymphangioleiomyomatosis Complicated by Renal Angiomyolipomas

Epithelioid angiomyolipoma of the kidney: pathological features and clinical outcome in a series of consecutively resected tumors

Cathepsin K expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney

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