Risk stratification and outcomes in 210 gynecologic perivascular epithelioid cell tumors (PEComas) cases

Jiang, Yanping; Liu, Xiaoqin; Zhang, Sai; Wang, Qian; Xu, Qian; Ghias, Kulsoom; Cao, Lanqin

doi:10.1007/s00404-022-06470-y

Cited by 2 publications

(1 citation statement)

References 12 publications

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“…Although most cases follow a benign clinical course, a small subset of PEComas do behave aggressively [12,13,15,16]. Multivariate analyses show that malignant potential of PEComas can be predicted based on the following 6 high-risk features: size > 5 cm, infiltrative growth, high grade nuclear atypia, mitoses > 1 per 50 high power fields (HPF), necrosis, and lympho-vascular invasion (LVI).…”

Section: Discussionmentioning

confidence: 99%

A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report

et al. 2023

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Background Malignant perivascular epithelioid cell tumors (PEComas) are exceedingly rare malignant mesenchymal neoplasms with characteristic morphological and immunohistochemical (IHC) patterns. However, some malignant PEComas are poorly differentiated with atypical histopathological features, making a definitive diagnosis difficult. PEComas are most commonly found in females and often show either TSC1 or TSC2 alterations, which result in the activation of the mTOR pathway, or TFE3 fusions. Given these molecular characteristics, mTOR inhibitors have recently been approved by the FDA in the treatment of malignant PEComas, particularly in those with TSC1/2 alterations. Therefore, molecular analyses may be helpful for both the diagnostic workup of and predicting response to mTOR inhibitors in cases of malignant PEComas. Case presentation Here, we report a case of an aggressive, 23 cm mesenteric malignant PEComa with multiple peritoneal metastases in a young male patient. Pathological examination of the initial biopsy showed a malignant epithelioid neoplasm with high-grade morphology and atypical immunoprofile, which precluded a definitive diagnosis. Because of the patient’s excessive transfusion requirements due to intra-tumoral hemorrhage, a palliative R2 resection was performed. Histopathological examination of the tumor revealed focal immunoreactivity for Melan-A, HMB-45, desmin, and CD117. Although a diagnosis of malignant PEComa was favored, other entities such as epithelioid gastrointestinal stromal tumor (GIST) or melanoma could not be definitively ruled out. Given the favored diagnosis, the patient was started on sirolimus, an mTOR inhibitor, rather than chemotherapy. Molecular analyses were performed and the tumor was found to harbor mutations in TP53 and TSC2, supporting a definitive diagnosis of malignant PEComa. The patient was then switched to nab-sirolimus, with initial stabilization of the disease. Conclusions This report details a multidisciplinary approach for the diagnosis and management of a highly aggressive, metastatic malignant PEComa in a young male patient. The basis for the treatment of malignant PEComas with the recently FDA-approved mTOR inhibitor, nab-sirolimus, is also reviewed. In summary, this case highlights the importance of molecular analysis, particularly TSC1/2 alterations, for both the definitive diagnosis of malignant PEComas and predicting their response to nab-sirolimus.

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Section: Discussionmentioning

confidence: 99%

A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report

et al. 2023

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Case report: Malignant epithelioid angiosarcoma in a Chinese female patient

Li,

Chen,

et al. 2024

Front. Oncol.

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Perivascular epithelioid cell tumors (PEComas) are mesenchymal tumors that exhibit characteristic epithelioid or spindle cell morphology and typically grow around blood vessels. These tumors are characterized by the expression of melanocytic and smooth muscle markers, such as HMB-45, Melan-A, and smooth muscle actin, indicating a dual differentiation phenotype. PEComas are extremely rare diseases, and patients typically have a very poor prognosis. Here, we report a case of malignant cutaneous PEComa with pulmonary metastasis in a Chinese female and review relevant literature. The patient underwent surgical resection of a soft tissue tumor in the left upper arm under general anesthesia, and the subsequent pathological findings suggested a tumor with perivascular epithelioid cell differentiation (PEComa). The patient received adjuvant chemotherapy and radiotherapy after surgical resection, along with monitoring through computed tomography (CT) scans. Three months later, pulmonary metastasis was detected, but both the cutaneous PEComa in the left upper limb and the pulmonary metastatic lesions were stably controlled under active management and treatment. This is a rare case worth reporting and studying, and therefore, we conducted a long-term follow-up, and we hope to provide help for the clinical treatment of PEComa.

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Risk stratification and outcomes in 210 gynecologic perivascular epithelioid cell tumors (PEComas) cases

Cited by 2 publications

References 12 publications

A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report

A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report

Case report: Malignant epithelioid angiosarcoma in a Chinese female patient

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