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Case Reports
. 2020 Nov 23:10:582087.
doi: 10.3389/fonc.2020.582087. eCollection 2020.

Case Report: Gastrointestinal PEComa With TFE3 Rearrangement Treated With Anti-VEGFR TKI Apatinib

Jiaming Xu  1 , Xiao-Lei Gong  1 , Huanwen Wu  2 , Lin Zhao  1
Affiliations
Case Reports

Case Report: Gastrointestinal PEComa With TFE3 Rearrangement Treated With Anti-VEGFR TKI Apatinib

Jiaming Xu et al. Front Oncol. .

Abstract

Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors. Unresectable malignant PEComas with TFE3 rearrangement have no recommended therapy to date. Here, we report the first case of malignant gastrointestinal PEComa with TFE3 rearrangement which has a response to the targeted therapy of an anti-VEGFR tyrosine kinase inhibitor (TKI), apatinib. A 31-year-old female was diagnosed with malignant gastrointestinal PEComa with TFE3 rearrangement and hepatic metastases. A resection of the giant retroperitoneal mass was performed. The patient received the anti-VEGFR TKI apatinib to treat the hepatic metastasis. The tumor remained stable during apatinib treatment and the progression-free survival (PFS) lasted about 7 months. This case suggests that targeting the VEGF/VEGFR signaling pathway may be an essential new therapeutic choice for TFE3-associated malignant PEComas.

Keywords: TFE3; anti-VEGFR; apatinib; mammalian target of rapamycin inhibitor; perivascular epithelioid cell tumors; tyrosine kinase inhibitor.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Timeline with relevant data from the episode of medical care.
Figure 2
Figure 2
Hematoxylin and eosin (H&E) staining and immunohistochemical analyses of the resected tumor. (A) The tumor cells arrange in a diffuse pattern(×4). (B) Epithelioid tumor cells are oval or polygonal, with clear or granular eosinophilic cytoplasm. Nucleoli are prominent in the vesicular nuclei. Increased mitotic activity and dysplasia are observed (×20). Tumor cells are positive for (C) HMB-45 (strong and diffuse), (D) Melan-A (patchy) and (E) TFE3 (modest and diffuse), and are negative for (F) SMA.
Figure 3
Figure 3
RNA-based next-generation sequencing identified SFPQ-TFE3 fusion in tumor cells. (A) Visualization of the sequencing results through the Integrative Genomics Viewer (IGV). A SFPQ-TFE3 fusion was showed. (B) shows the location where the fusion took place. (C) shows the retained protein domains of the fusion protein.
Figure 4
Figure 4
Response of apatinib for metastatic PEComa of the liver. (A) Multiple hepatic metastases revealed after surgery. (B) Tumor progression after everolimus treatment. (C) Response of hepatic metastases after apatinib treatment. (D) Tumor progression in April 2019.
See this image and copyright information in PMC

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