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

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.

Download Full-text

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

Case Reports in Pathology ◽

10.1155/2021/3924565 ◽

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.

Download Full-text

CLINICAL CASE OF A MALIGNANT PECOMA OF THE LUNG

Problems in oncology ◽

10.37469/0507-3758-2019-65-5-756-759 ◽

2019 ◽

Vol 65 (5) ◽

pp. 756-759

Author(s):

Mikhail Postolov ◽

Nadezhda Kovalenko ◽

K. Babina ◽

Stanislav Panin ◽

Yelena Levchenko ◽

...

Keyword(s):

Good Condition ◽

Lung Neoplasm ◽

Rare Condition ◽

Epithelioid Cell ◽

X Ray ◽

Perivascular Epithelioid Cell ◽

Mesenchymal Neoplasm ◽

Preoperative Ct ◽

Lymph Duct ◽

The Right

Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm characterized by expression of both mela-nocytic and smooth muscle markers. Only 10 primary malignant lung PEComas have been reported up to date. We report a 59-year-old male who presented with a lung neoplasm, found during the routine X-ray examination. Preoperative CT-scan revealed the 3,5-cm-sized mass, located at the border of the upper, middle and lower lobes of the right lung. Patient underwent a thoracotomy, resection of the upper, middle and lower lobes of the right lung accompanied with mediastinal lymphadenectomy. After surgery, chylothorax was revealed. Conservative treatment was unsuccessful, so we performed laparoscopic clipping of the thoracic lymph duct. Patient was dismissed from hospital on the 10-th day after the second operation in good condition. In this report, we intend to increase the limited knowledge relating to natural history and optimal treatment of such a rare condition as a primary malignant lung PEComa.

Download Full-text

Ultrasound Features of a Uterine Perivascular Epithelioid Cell Tumor (PEComa): Case Report and Literature Review

Diagnostics ◽

10.3390/diagnostics10080553 ◽

2020 ◽

Vol 10 (8) ◽

pp. 553

Author(s):

Luca Giannella ◽

Giovanni Delli Carpini ◽

Nina Montik ◽

Valeria Verdecchia ◽

Francesca Puccio ◽

...

Keyword(s):

Color Doppler ◽

Laparoscopic Hysterectomy ◽

Smooth Muscle Tumor ◽

Epithelioid Cell ◽

Uterine Wall ◽

Imaging Features ◽

Rare Occurrence ◽

Mesenchymal Tumors ◽

Perivascular Epithelioid Cell ◽

Ultrasound Evaluation

Background: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors. One of the most frequent localizations of PEComas is the female genitourinary tract, and the uterus is the most involved site after the kidney. Correct preoperative diagnosis is rarely achieved due to the presence of nonspecific imaging features. We report a case of a uterine PEComa with particular reference to ultrasound’s role in characterizing this rare occurrence. Case presentation: a 45-year-old White woman came to our observation for cyclic abdominopelvic pain and chronic constipation. The pre-surgical ultrasound examination showed a heterogeneous tumor that was 4 cm in size, localized on the right anterolateral uterine wall. The mass had well-delimited borders and a central hypoechoic portion. The use of color Doppler showed a rich, irregular vasculature in the center with low impedance. The preoperative diagnostic hypothesis was of a smooth muscle tumor of uncertain malignant potential. After careful counseling, a surgical approach was decided upon, including a total laparoscopic hysterectomy with bilateral salpingectomy. The histological and phenotypical features were consistent with a uterine PEComa. At the last follow-up, two years after surgery, the patient is alive and well. Conclusions: Uterine PEComa is a rare occurrence that should be included in the differential diagnosis of uterine wall tumors. It can appear as a small uterine mass with heterogeneous echogenicity and a rich vascular pattern during an ultrasound evaluation. This diagnostic suspicion may assist in better surgical planning.

Download Full-text

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

Case Reports in Medicine ◽

10.1155/2013/904126 ◽

2013 ◽

Vol 2013 ◽

pp. 1-4 ◽

Cited By ~ 15

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.

Download Full-text

Rapidly enlarging malignant abdominal PEComa with hepatic metastasis: a promising initial response to sirolimus following surgical excision of primary tumor

Oxford Medical Case Reports ◽

10.1093/omcr/omaa013 ◽

2020 ◽

Vol 2020 (3) ◽

Author(s):

Dustin J Uhlenhopp ◽

Jacob West ◽

Jonathan Heckart ◽

Ruth Campbell ◽

Abdelaziz Elhaddad

Keyword(s):

Mtor Inhibitor ◽

Mtor Inhibitors ◽

Surgical Excision ◽

Initial Response ◽

Epithelioid Cell ◽

Primary Lesion ◽

Mesenchymal Tumors ◽

Perivascular Epithelioid Cell ◽

Metastatic Lesions ◽

Perivascular Epithelioid Cell Tumors

Abstract Intra-abdominal perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors. Although no effective therapies have been agreed upon, mTOR inhibitors are currently being investigated as a potential therapy for this extremely rare tumor. We present a case of a 64-year-old male found to have a large intra-abdominal PEComa with multiple metastatic lesions in the liver. Patient underwent surgical resection of the primary lesion in the abdomen and sigmoid colon followed by adjuvant therapy with the mTOR inhibitor, sirolimus. Initial response was noted with a decrease in size and number of lesions found in the patient’s liver. After 8 months of therapy, restaging imaging showed disease progression in the liver lesions. Patient subsequently failed treatments with pazopanib, investigational therapy TAK-228 (Sapanisertib) and nivolumab and ipilimumab. Overall the patient died after 22 months of disease. PEComas generally follow a benign course. This case is a much rarer entity given the malignant features/outcome.

Download Full-text

A Primary Adrenal Epithelioid Angiomyolipoma (PEComa) in a Patient with Tuberous Sclerosis Complex: Report of a Case and Review of the Literature

Case Reports in Medicine ◽

10.1155/2020/5131736 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Nancy Torres Luna ◽

Jorge Esteban Mosquera ◽

Isin Yagmur Comba ◽

Mustafa Kinaan ◽

Jorge Otoya

Keyword(s):

Aggressive Behavior ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Present Report ◽

Epithelioid Cell ◽

Renal Tumors ◽

Mesenchymal Tumors ◽

Epithelioid Angiomyolipoma ◽

Perivascular Epithelioid Cell Neoplasms ◽

Perivascular Epithelioid Cell

Epithelioid angiomyolipomas (EAMLs) are mesenchymal tumors that are part of the family of the perivascular epithelioid cell neoplasms (PEComas). These tumors portray a potential aggressive behavior with metastatic lesions found in around 30% of reported cases. EAMLs might present sporadically or in association with the tuberous sclerosis complex (TSC). They typically involve the kidneys, liver, and lungs. It is extremely rare for these tumors to arise from other organs. The present report describes an unusual case of an adult patient with a history of TSC who developed EAML of the adrenal gland. Moreover, he presented with metastatic disease to the liver, a feature rarely described. The diagnosis of EAMLs can be challenging as they are hard to distinguish from other adrenal or renal tumors without a thorough histopathologic and immunohistochemical evaluation. Due to the potential aggressive behavior of these malignancies, timely diagnosis is extremely important and has significant therapeutic and prognostic implications.

Download Full-text

Malignant Subcutaneous Perivascular Epithelioid Cell Tumor of Anterior Abdominal Wall

Oman Medical Journal ◽

10.5001/omj.2021.21 ◽

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.

Download Full-text

Transcription Factor E3 Protein–Positive Perivascular Epithelioid Cell Tumor of the Appendix Presenting as Acute Appendicitis: A Case Report and Review of the Literature

Archives of Pathology & Laboratory Medicine ◽

10.5858/arpa.2012-0103-cr ◽

2013 ◽

Vol 137 (3) ◽

pp. 434-437 ◽

Cited By ~ 5

Author(s):

Kristina A. Matkowskyj ◽

M. Sambasiva Rao ◽

Kirtee Raparia

Keyword(s):

Transcription Factor ◽

Acute Appendicitis ◽

Neuron Specific Enolase ◽

Epithelioid Cell ◽

Renal Angiomyolipoma ◽

Mesenchymal Tumors ◽

Perivascular Epithelioid Cell ◽

Eosinophilic Cytoplasm ◽

Immunohistochemical Studies ◽

Perivascular Epithelioid Cell Tumors

Perivascular epithelioid cell tumors (PEComas) are a group of mesenchymal tumors that coexpress melanocytic and smooth muscle markers; their exact origin remains unknown. This group includes renal angiomyolipoma, clear cell sugar tumor, and lymphangioleiomyomatosis, although the term perivascular epithelioid cell tumors is currently used for lesions that exhibit a similar morphologic and immunohistochemical profile throughout the human body. Recently, a distinct subset of PEComas has been shown to harbor transcription factor E3 gene (TFE3) fusions. We report, for the first time, a unique case of TFE3-positive PEComa presenting as acute appendicitis in a 24-year-old woman. Microscopically, the tumor was composed of benign-appearing epithelioid cells with clear and eosinophilic cytoplasm, and arranged in nested and alveolar patterns. Immunohistochemical studies showed diffuse strong positivity for neuron-specific enolase, TFE3, and progesterone receptor and focal strong positivity for human melanoma black–45 (HMB-45) and melanocyte differentiation antigen (Melan-A) in the tumor cells. Although rare, PEComa should be included in the differential diagnosis of mesenchymal tumors of the appendix.

Download Full-text

Malignant Perivascular Epithelioid Cell Tumor Mimicking Renal Cell Carcinoma: A Diagnostic Pitfall

American Journal of Clinical Pathology ◽

10.1093/ajcp/aqz113.061 ◽

2019 ◽

Vol 152 (Supplement_1) ◽

pp. S62-S62

Author(s):

Natalya Hakim ◽

Yevgen Chornenkyy ◽

Shadi Qasem

Keyword(s):

Clear Cell ◽

Metastatic Potential ◽

Epithelioid Cell ◽

Initial Diagnosis ◽

World Health ◽

Epithelioid Cells ◽

Mesenchymal Tumors ◽

Fuhrman Grade ◽

Perivascular Epithelioid Cell ◽

Eosinophilic Cytoplasm

Abstract Introduction Perivascular epithelioid cell tumors (PEComas) are defined by the World Health Organization (WHO) as mesenchymal tumors arising from perivascular epithelioid cells with myomelanocytic immunophenotype. In the kidney, they are often referred to as epithelioid angimyolipoma (AML). Most are benign but some can be malignant. Their rarity and wide differential render diagnosis challenging. Case Presentation A 56-year-old male presented with a 3-month history of flank pain. Computed tomography (CT) identified bilateral necrotic heterogeneous enhancing kidney masses, with right significantly larger than left. Initially, the patient underwent a right radical nephrectomy. On gross examination, no tumor infiltration was observed. Histology demonstrated sheets of highly atypical cells with clear cytoplasm and easily identifiable nucleoli. Areas of spindle and rhabdoid differentiation were present. The initial diagnosis was renal clear cell (RCC) carcinoma, Fuhrman grade 4, with extensive rhabdoid and focal sarcomatoid features. A follow-up CT demonstrated a hypodense area within the right hepatic lobe. Status post liver resection and histomorphological examination, the lesion was identical to the renal mass except for focal areas of prominent epithelioid cells with eosinophilic cytoplasm. Immunohistochemical (IHC) stains of both masses were positive for Melan-A, HMB-45, and EMA but negative for PAX8, SOX10, S100, SMA, desmin, and cytokeratin. The initial diagnosis was amended to malignant AML with hepatic metastasis. Discussion and Conclusion Renal PEComa (epithelioid AML) is a rare tumor with a prevalence of 0.44%. While most are benign, some are malignant with metastatic potential. The differential diagnosis for PEComa is broad and includes more common tumors like RCC, melanoma, clear cell sarcoma, and liposarcoma. The presence of spindle and epithelioid histology with eosinophilic cytoplasm in RCC should prompt additional IHC workup (HMB45, Melan-A, SMA, and EMA) in order to exclude PEComa/AML.

Download Full-text

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

Frontiers in Oncology ◽

10.3389/fonc.2020.582087 ◽

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.

Download Full-text