PEComas: the past, the present and the future

Martignoni, Guido; Pea, Maurizio; Reghellin, Daniela; Zamboni, Giuseppe; Bonetti, Franco

doi:10.1007/s00428-007-0509-1

Cited by 444 publications

(472 citation statements)

References 113 publications

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“…Common angiomyolipomas typically contain more than one cell type; however, in some tumors one cell type predominates and these angiomyolipomas are consequently named lipoma-like or leiomyoma-like angiomyolipoma. 2 In this study we have demonstrated the constant finding of strong cathepsin K immunoexpression in the spindle and epithelioid smooth muscle-like and adipocyte-like cells in renal angiomyolipoma. Moreover, this finding is according to the previously described role of cathepsin K in adipocyte differentiation.…”

Section: Discussionsupporting

confidence: 52%

“…Angiomyolipoma is the most common mesenchymal neoplasm of the kidney and occurs both sporadically and in patients with tuberous sclerosis, a syndrome caused by losses of tuberous sclerosis 1 (TSC1; 9q34) or tuberous sclerosis 2 (TSC2; 16p13.3) and characterized by mental retardation, seizures and cellular proliferations. 1,2 The pathogenesis of angiomyolipoma is determined by mutations affecting TSC genes, with eventual deregulation of the RHEB/MTOR/ RPS6KB2 pathway. 3 It has been observed that angiomyolipomas regressed somewhat during sirolimus therapy, an MTOR inhibitor, but tended to increase in volume after the therapy was stopped.…”

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confidence: 99%

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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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Section: Discussionsupporting

confidence: 52%

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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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“…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. 24,25 In our series, only three cases (#1, 2, and 16) had other concurrent renal tumors.…”

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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“…PEComas include angiomyolipoma (AML), lymphangioleiomyomatosis (LAM), clear cell 'sugar' tumour of the lung and extra-pulmonary sites, clear cell myomelanocytic tumour of the falciform ligament/ligamentum teres and rare clear cell tumours of other sites [1].…”

Section: Discussionmentioning

confidence: 99%

PEComa of the Nose: Report of a Case with Immunohistochemical and Ultrustructural Studies and a Review of the Literature

Afrogheh

Schneider

Bezuidenhout

et al. 2013

Head and Neck Pathol

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PEComas: the past, the present and the future

Cited by 444 publications

References 113 publications

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

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

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

PEComa of the Nose: Report of a Case with Immunohistochemical and Ultrustructural Studies and a Review of the Literature

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