Primary perivascular epithelioid cell tumor (PEComa) in bone: A review of the literature and a case arising in the humerus with multiple metastases

Jingyu Zhong; Yangfan Hu; Liping Si; Yue Xing; Jia Geng; Qiong Jiao; Huizhen Zhang; Weiwu Yao

doi:10.1016/j.jbo.2020.100336

Primary perivascular epithelioid cell tumor (PEComa) in bone: A review of the literature and a case arising in the humerus with multiple metastases

J Bone Oncol. 2020 Nov 5:26:100336. doi: 10.1016/j.jbo.2020.100336. eCollection 2021 Feb.

Authors

Jingyu Zhong¹, Yangfan Hu², Liping Si¹, Yue Xing¹, Jia Geng³, Qiong Jiao⁴, Huizhen Zhang⁴, Weiwu Yao¹

Affiliations

¹ Department of Imaging, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, 1111 XianXia Road, Shanghai 200336, China.
² Department of Radiology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 YiShan Road, Shanghai 200233, China.
³ Department of Radiology, The First Affiliated Hospital, College of Medicine, Zhejiang University, 79 QingChun Road, Hangzhou 310003, China.
⁴ Department of Pathology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 YiShan Road, Shanghai 200233, China.

Abstract

Introduction: Perivascular epithelioid cell tumors (PEComas) are a family of mesenchymal tumors that rarely arise as a primary bone tumor.

Material and methods: We report a case of primary malignant bone PEComa. A literature review via PubMed, Embase and Web of Science databases with the keyword "PEComa" and "bone" was performed.

Results: We reported a 33-year-old female with primary malignant bone PEComa in right distal humerus. The patient received an inhibitor of the mammalian target of rapamycin (mTOR) protein based on negative molecular investigation result of transcription factor E3 (TFE3) rearrangement, and additional therapies including palliative radiotherapy, anti-angiogenics and immunotherapy when the disease progression was detected. The patient was alive with the disease twenty-three months postoperatively. A total of nineteen related literature cases were retrieved and reviewed. Taking current case into account, ten males and ten females with median age of 24 years (range, 3-93 years) were identified, who were most frequently affected in tibia. The median follow-up duration of 24 months (range, 3-96 months). One patient died due to this disease, and six patients showed metastases. Three patients experienced recurrence, and two of them experienced twice and three times, respectively.

Conclusion: To our knowledge, this is the first case of primary malignant bone PEComa arising in humerus. Clinicopathological and radiological correlation is mandatory to the correct diagnosis and to determine its malignancy. More studies are required to understand the role of molecular test and imaging in selecting suitable treatment and mechanisms of treatment resistance.

Keywords: 18F-FDG, fluorine-18-fluorodeoxyglucose positron; ASPS, alveolar soft part sarcoma; Bone neoplasm; CT, computed tomography; ECT, emission computed tomography; EMA, membrane antigen; HMB 45, human melanoma black 45; HPF, high-power fields; Humerus; MITF, microphthalmia-associated transcription factor; MRI, magnetic resonance imaging; Malignant; Metastasis; PEComa, perivascular epithelioid cell tumor; PET/CT, positron emission tomography/computed tomography; Perivascular epithelioid cell tumor (PEComa); SMA, smooth muscle actin; SUVmax, maximum standard uptake value; TFE3, transcription factor E3; mTOR, mammalian target of rapamycin.