Melanocyte-marker-HMB-45 is regularly expressed in angiomyolipoma of the kidney

Pea, Maurizio; Bonetti, Franco; Zamboni, Giuseppe; Martignoni, Guido; Riva, M.; Colombari, Romano; Mombello, Aldo; Bonzanini, Mariella; Scarpa, Aldo; Ghimenton, Claudio; Donati, L

doi:10.3109/00313029109063563

Cited by 222 publications

(101 citation statements)

References 8 publications

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“…Recent reports have considerably widened the spectrum of PEC lesions reporting them in the uterus, pancreas and in the falciform ligament (7)(8)(9)(10)(11). PEC tumors can mimic renal clear cell carcinoma (12)(13)(14)(15)(16)(17) epithelioid leiomyosarcoma (18), hepatocellular carcinoma (19,20) conventional leiomyosarcoma or other high grade sarcomas.…”

Section: Discussionmentioning

confidence: 99%

Abdominopelvic Sarcoma of Perivascular Epithelioid Cells. Report of Four Cases in Young Women, One with Tuberous Sclerosis

et al. 2001

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The perivascular epithelioid cell has been proposed to be the unifying proliferating cell type in a number of lesions such as angiomyolipoma, lymphangiomyomatosis, clear cell "sugar" tumor and renal capsuloma. With the exception of rare examples of angiomyolipoma, they are nonmetastasizing. We report four examples of a new member of this family of perivascular epithelioid cell neoplasms that occur in abdominopelvic location and show metastatic properties. The patients, all women, were aged 19 to 41 years (mean, 32), and presented with a tumor mass involving the serosa of the ileum, uterus or pelvic cavity. Morphologically, the tumors were composed of sheets of large polygonal cells with glycogen-rich clear or eosinophilic cytoplasm and moderately pleomorphic nuclei, traversed by a delicate vasculature, mimicking clear cell carcinoma. There were areas of coagulative necrosis and occasional mitotic figures. Intracytoplasmic brown pigment was present in two cases. Spindly cells, smooth muscle and fat were absent. Lymphovascular invasion was present in all, lymph node metastasis was documented in two and metastasis to the ovary was present in one case. Two patients developed widespread metastatic disease after 10 and 28 months from diagnosis. One patient showed the clinical signs of tuberous sclerosis. In spite of the epithelial-like appearance, the tumor cells were negative for epithelial markers but were strongly positive with the melanogenesis-related marker HMB45. Another melanogenesis marker (MART-1) was positive in two cases. Other markers including S-100 protein, vimentin, muscle-specific actin, desmin and chromogranin A were negative. Thus, these tumors are not readily classifiable in the existing schema of known entities, and show overlapping morpho-phenotypic features of clear cell "sugar" tumor of the lung and epithelioid angiomyolipoma. We consider them as sarcomas composed of a pure population of uncommitted perivascular epithelioid cell, that lack modulation toward smooth muscle or adipose cells.

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Section: Discussionmentioning

confidence: 99%

Abdominopelvic Sarcoma of Perivascular Epithelioid Cells. Report of Four Cases in Young Women, One with Tuberous Sclerosis

et al. 2001

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“…10,11 These features taken together, lymphangioleiomyomatosis can be considered as part of the spectrum of proliferative lesions that have been previously defined by our group under the name of 'perivascular epithelioid cell tumours' (PEComas), including angiomyolipoma, clear-cell 'sugar' tumour of the lung and extrapulmonary sites and rare clear-cell tumours at other anatomical sites. 2,[12][13][14] This class of tumours is characterized by distinctive morphologic, immunohistochemical, ultrastructural and genetic features and are defined by the World Health Organization as 'mesenchymal tumours composed of histologically and immunohistochemically distinctive perivascular epithelioid cells'. 2 Although the inclusion of pulmonary lymphangioleiomyomatosis within this group of lesions has been questioned, lymphangioleiomyomatosis shares with PEComas most immunophenotypic features, and typically show the genetic alterations of the tuberous sclerosis complex (TSC), an autosomal dominant genetic disease because of either losses of TSC1 (9q34) or TSC2 (16p13.3) genes.…”

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Cathepsin-k expression in pulmonary lymphangioleiomyomatosis

Chilosi

Pea²,

Martignoni

et al. 2009

Modern Pathology

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Lymphangioleiomyomatosis is a rare and progressive lung cystic disease, caused by the infiltration of lung parenchyma by mesenchymal cells characterized by co-expression of contractile proteins and melanocytic markers. The pathogenesis of lymphangioleiomyomatosis is determined by mutations affecting tuberous sclerosis complex (TSC) genes, with eventual deregulation of the Rheb/mTOR/p70S6K pathway, and the potential therapeutic activity of mTOR inhibitors is currently under investigation. To better understand the molecular mechanisms involved in the pathogenesis of lymphangioleiomyomatosis, we investigated the expression of cathepsin-k (a papain-like cysteine protease with high matrix-degrading activity). The rationale of this choice was based on the recent demonstration that mTOR inhibitors can regulate major functional activities of osteoclasts, including the expression of cathepsin-k. The immunohistochemical study included 12 cases of lymphangioleiomyomatosis. Twelve angiomyolipomas and several lung diseases (sarcoidosis, organizing pneumonia, usual interstitial pneumonia, emphysema) were investigated as controls. In all lymphangioleiomyomatosis cases, strong cathepsin-k immunoreactivity was demonstrated, restricted to lymphangioleiomyomatosis cells. Similar expression levels were observed in renal angiomyolipomas. These observations extend the knowledge regarding the immunophenotypic profile of lymphangioleiomyomatosis cells, and provide a useful new marker for diagnosis in difficult cases (eg, in small transbronchial biopsies). The strong expression of such a potent papain-like cysteine protease in lymphangioleiomyomatosis cells can significantly contribute to the progressive remodelling of lung parenchyma observed in this deadly disease, with eventual formation of lung cysts. It is possible to speculate that mTOR inhibitors may exert part of their action by limiting the destructive remodelling of lung structure.

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“…The descriptive term perivascular epithelioid cell (PEC) was proposed by Bonetti et al [1,20] to describe a novel cell type demonstrating HMB45 immunoreactivity and the presence of premelanosomes ultrastructurally, and which morphologically resembled the CCST of lung, AML of the kidney and liver, and LAM [21][22][23][24][25][26]. They hypothesized that the PEC may originate from the walls of blood vessels, given the perivascular association and the fact that there is no known normal cellular counterpart to the PEC.…”

Section: Discussionmentioning

confidence: 99%

Perivascular Epithelioid Cell Tumors (PEComas) of the Head and Neck: Report of Three Cases and Review of the Literature

Bandhlish

Barnes

Rabban

et al. 2011

Head and Neck Pathol

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PEComas are a family of neoplastic lesions that share overlapping morphology, immunohistochemistry, and ultrastructure that include angiomyolipoma, lymphangioleiomyomatosis, clear cell ''sugar'' tumor of the lung as well as similar tumors occurring in a variety of visceral, cutaneous and soft tissue sites throughout the body. The defining histopathological features are epithelioid cells with a perivascular distribution containing clear to pale eosinophilic granular cytoplasm and a round-to-oval centrally located nucleus with an inconspicuous nucleolus. Immunohistochemically, coexpression of melanocytic (HMB-45 and/or Melan-A) and myoid markers are characteristic. In the present study, we describe three PEComas occurring in the head and neck (nasal cavity and larynx) and discuss the behavior of these distinctive tumors and review the literature of head and neck PEComas. The importance of recognizing this entity will ensure its consideration in the differential diagnosis of tumors of the head and neck with a similar morphology. The histogenesis of PEComas still remains elusive and additional cases with a prolonged follow up remain important to accurately determine the behavior of these distinctive tumors. Complete surgical excision still remains the treatment of choice for histologically benign PEComas.

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Melanocyte-marker-HMB-45 is regularly expressed in angiomyolipoma of the kidney

Cited by 222 publications

References 8 publications

Abdominopelvic Sarcoma of Perivascular Epithelioid Cells. Report of Four Cases in Young Women, One with Tuberous Sclerosis

Abdominopelvic Sarcoma of Perivascular Epithelioid Cells. Report of Four Cases in Young Women, One with Tuberous Sclerosis

Cathepsin-k expression in pulmonary lymphangioleiomyomatosis

Perivascular Epithelioid Cell Tumors (PEComas) of the Head and Neck: Report of Three Cases and Review of the Literature

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