scholarly journals A Liver Transplant for Local Control in a Pediatric Patient with Metastatic TFE3-Associated Perivascular Epithelioid Cell Tumor (PEComa) to the Liver

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Whayoung Lee ◽  
Josephine HaDuong ◽  
Aaron Sassoon ◽  
Tuan Dao ◽  
Ali Nael
Keyword(s):  
Local Control ◽  
Gene Rearrangement ◽  
Epithelioid Cell ◽  
Cell Tumor ◽  
The Body ◽  
Separate Entity ◽  
Mesenchymal Tumors ◽  
Perivascular Epithelioid Cell ◽  
First Case ◽  
Isolated Liver

Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors with widespread distribution throughout the body and unpredictable clinical behavior. Recently, a subset of these tumors has been reported to harbor Transcription Factor E3 (TFE3) gene rearrangement with distinct morphologic and immunophenotypic features. Although limited, these tumors may represent a separate entity from the conventional PEComas and may require different treatment approaches. Surgery is the main treatment option with no clear consensus on systemic therapy. Here, we present the first case of a malignant pediatric colonic TFE3-associated PEComa with isolated liver metastasis leading to liver transplantation for the local control.

Gastric Perivascular Epithelioid Cell Tumor (PEComa)

2019 ◽  
Vol 152 (2) ◽  
pp. 221-229 ◽  
Author(s):  
Jinghong Xu ◽  
Yu Yan ◽  
Xueping Xiang ◽  
Peter Jiang ◽  
Xiangrong Hu ◽  
...  
Keyword(s):  
Gene Rearrangement ◽  
Smooth Muscle Actin ◽  
Epithelioid Cell ◽  
Cell Tumor ◽  
Perivascular Epithelioid Cell Tumor ◽  
Rare Neoplasm ◽  
Perivascular Epithelioid Cell ◽  
Molecular Features ◽  
First Case

Abstract Objectives To review the clinicopathologic, immunophenotypic, and molecular features of gastric perivascular epithelioid cell tumor (PEComa). Methods We identified two new cases of gastric PEComa and summarized the clinical and pathologic characteristics of this rare neoplasm. Results The first case was a 48-year-old woman who was treated with an endoscopic submucosal dissection (ESD), and the second case was a 64-year-old man who received a distal gastrectomy. Microscopic examination showed one tumor was composed of purely epithelioid cells, while the other was composed of epithelioid and spindle cells. Both tumors were immunoreactive for melanocytic markers (HMB45 and Melan-A), smooth muscle actin, and vimentin. No TFE3 gene rearrangement was identified by fluorescence in situ hybridization in either case. Conclusions Gastric PEComa is an exceedingly rare neoplasm, with only seven other reported cases to date. We are the first to report the results of molecular assays for the TFE3 gene rearrangement associated with gastric PEComa.

scholarly journals PEComa: A Perivascular Epithelioid Cell Tumor in the Liver—A Case Report and Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Faseeh Khaja ◽  
Allison Carilli ◽  
Said Baidas ◽  
Aravindhan Sriharan ◽  
Shanedelle Norford
Keyword(s):  
Malignant Tumors ◽  
Mtor Inhibitors ◽  
Epithelioid Cell ◽  
Soft Tissue Tumors ◽  
Cell Tumor ◽  
The Body ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Perivascular Epithelioid Cell ◽  
Perivascular Epithelioid Cell Tumors

Perivascular epithelioid cell tumors are soft tissue tumors that can occur in various locations in the body whose incidence is rising. Hepatic PEComas are quite rare and diagnosis involves positivity of Melan-A and HMB45 on immunohistochemistry. Usual treatment is surgery for benign tumors and chemotherapy including mTOR inhibitors for malignant tumors. Here we discuss the radiological and pathological diagnosis, evaluation, and management of a hepatic PEComa. We describe a 51-year-old patient who was diagnosed incidentally after unusual physical exam findings.

scholarly journals An Inguinal Perivascular Epithelioid Cell Tumor Metastatic to the Orbit

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Zofia Tynski ◽  
Way Chiang ◽  
Albert Barrett
Keyword(s):  
Clear Cell ◽  
Middle Age ◽  
Epithelioid Cell ◽  
Ligamentum Teres ◽  
Cell Tumor ◽  
The Third ◽  
Perivascular Epithelioid Cell ◽  
Mesenchymal Neoplasms ◽  
First Case ◽  
Sugar Tumor

Malignant PEComas are rare mesenchymal neoplasms. These tumors harbor distinct myomelanocytic phenotype. The PEComa family of tumors includes lymphangioleiomyomatosis, angiomyolipoma, clear cell sugar tumor of the lung, and myomelanocytic tumor of the falciparum ligament/ligamentum teres. PEComas have no known normal cell counterpart. Majority of PEComas are benign and occur predominantly in the middle-age women. These tumors are commonly encountered in the uterus. Herein, we report a 20-year-old woman with a left inguinal mass metastatic to orbit, brain, lumbar spine, and skin at presentation. To our knowledge, this is the first case of metastatic PEComa to the orbit. This is the third case of primary PEComa of the inguinal area.

scholarly journals Malignant Subcutaneous Perivascular Epithelioid Cell Tumor of Anterior Abdominal Wall

2021 ◽  
Vol 36 (2) ◽  
pp. e239-e239
Author(s):  
David Eng Yeow Gan ◽  
Rebecca Xin Yi Choy ◽  
Harivinthan Sellappan ◽  
Firdaus Hayati ◽  
Nornazirah Azizan
Keyword(s):  
Anterior Abdominal Wall ◽  
Rectus Sheath ◽  
Epithelioid Cell ◽  
Cell Tumor ◽  
Resection Margins ◽  
Epithelioid Cells ◽  
Mesenchymal Tumors ◽  
Perivascular Epithelioid Cell ◽  
Spindle Cells ◽  
Subcutaneous Lesion

Perivascular epithelioid cell tumors (PEComas) are a family of rare mesenchymal tumors with discrete histological and immunohistochemical characteristics. Even rarer among them are cutaneous and subcutaneous PEComas. We describe a 34-year-old woman who presented with a large anterior abdominal subcutaneous lesion showing intact overlying skin and no obvious invasion of the abdominal musculature. A wide local excision was performed. Histopathology revealed a solitary tumor measuring 75 × 55 × 90 mm with epithelioid cells in nests with thin fibrovascular septa and spindle cells. Resection margins were clear with no invasion to the skin or rectus sheath. Tumor cells were positive for HMB-45 but negative for other markers. This is the largest subcutaneous PEComa reported to date.

scholarly journals Malignant Mesenteric Perivascular Epithelioid Cell Neoplasm Presenting as an Intra-Abdominal Fistula in a 49-Year-Old Female

2014 ◽  
Vol 2014 ◽  
pp. 1-5
Author(s):  
Sakshi Kapur ◽  
Napoleon K. Patel ◽  
Miles B. Levin ◽  
Richard Huang
Keyword(s):  
Exploratory Laparotomy ◽  
Epithelioid Cell ◽  
Hepatic Flexure ◽  
The Body ◽  
Mesenchymal Tumors ◽  
Diffuse Abdominal Pain ◽  
Perivascular Epithelioid Cell ◽  
Mesenteric Mass ◽  
Poor Differentiation ◽  
The Right

Perivascular epithelioid cell tumors are rare mesenchymal tumors arising from histologically and immunohistochemically distinctive perivascular epithelioid cells that express both myogenic and melanocytic markers. These tumors are known to arise from different organs in the body and usually have an unpredictable clinical course. We report a case of a 49-year-old female who presented with diffuse abdominal pain, fever, chills, and nonbilious vomiting for a day. Work-up revealed a mesenteric mass measuring13.5×7.7×9.5 cm, arising in the mesentery of the hepatic flexure, with adjacent gas suggestive of fistularization into the right colon. An exploratory laparotomy with resection of the mesenteric mass was performed, and the initial histopathology results were compatible with either an adenocarcinoma or a sarcoma; however, because of poor differentiation it was difficult to make a definitive diagnosis. However, final histopathology results revealed a malignant perivascular epithelioid cell tumor (with reservation that a S100 negative metastatic melanoma must be excluded clinically). Following surgery the patient was started on everolimus, an m-TOR inhibitor, and has shown good response to this medication.

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

2020 ◽  
Vol 10 ◽  
Author(s):  
Jiaming Xu ◽  
Xiao-Lei Gong ◽  
Huanwen Wu ◽  
Lin Zhao
Keyword(s):  
Kinase Inhibitor ◽  
Hepatic Metastases ◽  
Progression Free Survival ◽  
Epithelioid Cell ◽  
Mesenchymal Tumors ◽  
Free Survival ◽  
Perivascular Epithelioid Cell ◽  
First Case ◽  
Therapeutic Choice ◽  
Recommended Therapy

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.

scholarly journals Sustained response to pembrolizumab in recurrent perivascular epithelioid cell tumor with elevated expression of programmed death ligand: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ali McBride ◽  
Andrew J. Garcia ◽  
Lauren J. Sanders ◽  
Kelly Yiu ◽  
Lee D. Cranmer ◽  
...  
Keyword(s):  
Cell Death ◽  
Case Report ◽  
Programmed Cell Death ◽  
Epithelioid Cell ◽  
Cell Tumor ◽  
World Health ◽  
Mesenchymal Tumors ◽  
Curative Intent ◽  
Perivascular Epithelioid Cell Tumor ◽  
Perivascular Epithelioid Cell

Abstract Background Perivascular epithelioid cell tumors are defined by the World Health Organization as “a collection of rare mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells.” Whereas localized perivascular epithelioid cell tumor is typically benign and treated successfully with surgical resection, prognosis for patients with advanced or metastatic perivascular epithelioid cell tumor is unfavorable, and there is no standard curative treatment. Case presentation We report a Caucasian case of metastatic perivascular epithelioid cell tumor previously treated with chemotherapy and surgery with elevated surface expression of programmed cell death ligand 1. Based on this result, treatment via immune checkpoint inhibition with the monoclonal antibody pembrolizumab was pursued. After 21 cycles, the patient sustained a complete response. Therapy was stopped after the 40th cycle, and she was moved to surveillance. She remained disease free 19 months off treatment. Conclusions This case report of a patient with perivascular epithelioid cell tumor treated successfully with programmed cell death protein-1 targeted therapy suggests that programmed cell death ligand-1 levels should be measured in patients with perivascular epithelioid cell tumor and immunotherapy considered for recurrent or metastatic patients. Future phase II/III studies in this disease should focus on sequencing of surgery and immunotherapy with a design of curative intent.

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