Cutaneous perivascular epithelioid cell tumor (PEComa): case report and world literature review of clinical and molecular characteristics

Cohen, Philip R.; Kato, Shumei M; Erickson, Christof P; Calame, Antoanella; Kurzrock, Razelle

doi:10.5070/d328157058

Cited by 7 publications

(44 citation statements)

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“…A second step consisted in defining this lesion in the spectrum of benignity or malignancy. In this regard, the scheme of Folpe et al was used [3][4][5][6][7][8][9][10][11]. was partially positive.…”

Section: Resultsmentioning

confidence: 99%

“…A second step consisted in defining this lesion in the spectrum of benignity or malignancy. In this regard, the scheme of Folpe et al was used [3][4][5][6][7][8][9][10][11]. The cPEComa had only one characteristic suggestive of possible malignancy, the infiltrative growth pattern, but other parameters such as necrosis, tumour size greater than 5 cm and vascular invasion were absent.…”

Section: Resultsmentioning

confidence: 99%

“…For many years, clear cell tumours have been called sugar tumours in the lung and myomelanocytomas at other sites [ 12 , 13 ]. On the other hand, cPEComa is a rare tumour, first described in 2003 [ 6 ] and later confirmed by other reports [ 7 , 8 , 9 , 10 , 11 , 14 , 15 , 16 , 17 ]; it is not yet clear what the real histogenesis of this entity is, as the benign cell counterpart of origin of this neoplasm is not known [ 10 ]. The concept of PEComa was coined in a unifying sense for a series of different entities that has been named in the most diverse ways [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…The majority of cPEComas arise on the extremities (lower > upper) and, less frequently, on the trunk [ 7 , 8 ]. In a very recent review [ 9 ], 65 cases of cPEComa were isolated from an in-depth analysis. In this paper, we present a new case of cPEComa found on the left thigh of a 53-year-old patient; we report its histopathological, immunohistochemical and molecular biology characteristics, and, finally, we compare our case with the cases previously reported in the literature.…”

Section: Introductionmentioning

confidence: 99%

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Primitive Cutaneous (P)erivascular (E)pithelioid (C)ell Tumour (PEComa): A New Case Report of a Rare Cutaneous Tumor

Cazzato

Colagrande

Lospalluti

et al. 2022

Genes

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Perivascular epithelioid cell tumours (PEComas) are a growing family of tumours composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. Cutaneous primitive PEComas (cPEComas) are very rare, with 65 cases described in the English literature, and occur as a painless lesion predominantly in female patients, with a wide age range. We present a new case of cPEComa found on the left thigh of a 53-year-old patient with histopathological, immunohistochemical, and molecular information. The lesion was positive for HMB-45 and focal for smooth muscle actin and desmin but negative for melan-A, S-100 protein, CD31, and CD34. Next generation sequencing (NGS) analysis demonstrated the presence of genomic aberration for baculoviral IAP repeats containing BIRC3 splice site 1622-27_1631del37. Although there are little molecular data regarding this entity, our case adds to this knowledge, considering the importance of detecting genomic aberrations in the context of specific therapies such as mTOR inhibitors.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Primitive Cutaneous (P)erivascular (E)pithelioid (C)ell Tumour (PEComa): A New Case Report of a Rare Cutaneous Tumor

Cazzato

Colagrande

Lospalluti

et al. 2022

Genes

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“…The tumor is classified as malignant based upon the presence of two high-risk, worrisome features: increased mitotic activity (with three mitoses per ten high-power fields) and scattered nuclear pleomorphism (demonstrated by high-grade nuclear atypia) (hematoxylin and eosin: B, 9 2; C, 9 20). Republished from [96] with permission from the University of California, Davis Department of Dermatology, Sacramento, California Cutaneous PEComa is extraordinarily rare; only 67 patients have been described: 60 with primary benign PEComa, 5 with primary malignant PEComa, and 2 with skin metastases from a malignant visceral PEComa. In contrast to systemic PEComa, the female-to-male ratio was only 2:1.…”

Section: Squamous Cell Carcinoma (Scc)mentioning

confidence: 99%

Dermatologic Disease-Directed Targeted Therapy (D3T2): The Application of Biomarker-Based Precision Medicine for the Personalized Treatment of Skin Conditions—Precision Dermatology

Cohen

Kurzrock

2022

Dermatol Ther (Heidelb)

Self Cite

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Precision dermatology uses individualized dermatologic disease-directed targeted therapy (D 3 T 2 ) for the management of dermatoses and for the evaluation and therapy of cutaneous malignancies. Personalized/precision strategies are based on biomarkers that are most frequently derived from tissue transcriptomic expression or genomic sequencing or from circulating cytokines. For instance, the pathologic diagnosis of a pigmented lesion and determining the prognosis of a malignant melanocytic neoplasm can be enhanced by genomic/transcriptomic analysis. In addition to biopsy, innovative techniques have been developed for

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Molecular and functional imaging in cancer-targeted therapy: current applications and future directions

Bai

Qiu

Zhang

2023

Sig Transduct Target Ther

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Targeted anticancer drugs block cancer cell growth by interfering with specific signaling pathways vital to carcinogenesis and tumor growth rather than harming all rapidly dividing cells as in cytotoxic chemotherapy. The Response Evaluation Criteria in Solid Tumor (RECIST) system has been used to assess tumor response to therapy via changes in the size of target lesions as measured by calipers, conventional anatomically based imaging modalities such as computed tomography (CT), and magnetic resonance imaging (MRI), and other imaging methods. However, RECIST is sometimes inaccurate in assessing the efficacy of targeted therapy drugs because of the poor correlation between tumor size and treatment-induced tumor necrosis or shrinkage. This approach might also result in delayed identification of response when the therapy does confer a reduction in tumor size. Innovative molecular imaging techniques have rapidly gained importance in the dawning era of targeted therapy as they can visualize, characterize, and quantify biological processes at the cellular, subcellular, or even molecular level rather than at the anatomical level. This review summarizes different targeted cell signaling pathways, various molecular imaging techniques, and developed probes. Moreover, the application of molecular imaging for evaluating treatment response and related clinical outcome is also systematically outlined. In the future, more attention should be paid to promoting the clinical translation of molecular imaging in evaluating the sensitivity to targeted therapy with biocompatible probes. In particular, multimodal imaging technologies incorporating advanced artificial intelligence should be developed to comprehensively and accurately assess cancer-targeted therapy, in addition to RECIST-based methods.

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Cutaneous perivascular epithelioid cell tumor (PEComa): case report and world literature review of clinical and molecular characteristics

Cited by 7 publications

References 0 publications

Primitive Cutaneous (P)erivascular (E)pithelioid (C)ell Tumour (PEComa): A New Case Report of a Rare Cutaneous Tumor

Primitive Cutaneous (P)erivascular (E)pithelioid (C)ell Tumour (PEComa): A New Case Report of a Rare Cutaneous Tumor

Dermatologic Disease-Directed Targeted Therapy (D3T2): The Application of Biomarker-Based Precision Medicine for the Personalized Treatment of Skin Conditions—Precision Dermatology

Molecular and functional imaging in cancer-targeted therapy: current applications and future directions

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