Epithelioid Angiomyolipoma: A Morphologically Distinct Variant That Mimics a Variety of Intra-abdominal Neoplasms

2011 ◽  
Vol 135 (5) ◽  
pp. 665-670
Author(s):  
Ozgur Mete ◽  
Theodorus H. van der Kwast
Keyword(s):  
Correct Diagnosis ◽  
Smooth Muscle Tumor ◽  
Epithelioid Cell ◽  
Cell Phenotype ◽  
Renal Oncocytoma ◽  
Nerve Sheath Tumor ◽  
Epithelioid Angiomyolipoma ◽  
Perivascular Epithelioid Cell ◽  
Show Evidence ◽  
Clear Cytoplasm

Abstract This review examines the histopathologic, immunohistochemical, ultrastructural, and molecular biologic features of epithelioid angiomyolipoma (EAML), with an emphasis on the differential diagnosis of intra-abdominal EAML. Epithelioid angiomyolipoma is an uncommon mesenchymal tumor with malignant potential, frequently associated with tuberous sclerosis complex. Histologically, EAML is characterized by sheets or nests of large polygonal epithelioid cells with abundant eosinophilic or occasionally clear cytoplasm, often with prominent nucleoli, and EAML may include multinucleated and markedly pleomorphic forms. As these tumors share a distinctive perivascular epithelioid cell phenotype, they belong to the PEComa tumor family. Nearly all EAMLs show immunoreactivity for both melanocytic and myoid markers. Ultrastructurally, EAMLs show evidence of melanogenesis by the presence of premelanosomes. Epithelioid angiomyolipoma can pose significant diagnostic challenges as it mimics morphologically a variety of neoplasms including renal cell carcinoma, renal oncocytoma, adrenal cortical neoplasm, epithelioid smooth muscle tumor, epithelioid peripheral nerve sheath tumor, epithelioid gastrointestinal stromal tumor, epithelioid melanoma, hepatoblastoma, and hepatocellular carcinoma. The variation in immunophenotype in these tumors requires a prudent use of immunohistochemistry, which may occasionally need complementation by electron microscopy to establish the correct diagnosis.

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

Diagnostics ◽  
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.

scholarly journals Renal Perivascular Epithelioid Cell Tumor with Lymph Nodes Metastasis: A Case Report and Literature Review

2021 ◽  
Author(s):  
Lingkai Cai ◽  
Qiang Cao ◽  
Hongjin Hua ◽  
Qikai Wu ◽  
Baorui Yuan ◽  
...  
Keyword(s):  
Lymph Nodes ◽  
Epithelioid Cell ◽  
Cell Tumor ◽  
Epithelioid Angiomyolipoma ◽  
Case Presentation ◽  
Perivascular Epithelioid Cell Tumor ◽  
Lymph Nodes Metastasis ◽  
Perivascular Epithelioid Cell ◽  
Renal Hilum

Abstract Background: Perivascular epithelioid cell tumor (PEComa) is mesenchymal tumor that originated from perivascular epithelioid cells. Angiomyolipoma (AML) is a common benign PEComa, composed of blood vessels, smooth muscle and mature adipose tissue. Epithelioid angiomyolipoma (EAML) is a rare subtype of AML that has the potential to be malignant.Case presentation: The patient was a 42-year-old woman admitted to the hospital for her left low back swelling. The computed tomography angiography (CTA) revealed a 6.3*5.5*6.7cm cystic-solid tumor in the intermediate kidney. Then we performed a left nephrectomy. Postoperative pathology showed that the tumor was angiomyolipoma (PEComa) with necrotic formation and was 6cm*6cm*5.5cm in size. Additionally, lymph nodes involved (4/17) were observed in the left renal hilum. Immunohistochemistry staining indicated that tumor cells focally expressed MelanA and HMB45. No evidence of disease progression at the six-month follow-up after surgery.Conclusions: Lymph nodes involvement in renal PEComa was rare and was regarded as a type of metastasis. Lymph nodes metastasis might indicate a poor prognosis.

A Tale of 2 Morphologies: Diagnostic Pitfalls in TFEB-Associated Renal Cell Carcinomas, Including a Novel NEAT1-TFEB Fusion

2020 ◽  
pp. 106689692095627
Author(s):  
Aarti E. Sharma ◽  
Megan Parilla ◽  
Pankhuri Wanjari ◽  
Jeremy P. Segal ◽  
Tatjana Antic
Keyword(s):  
Renal Cell ◽  
Correct Diagnosis ◽  
Epithelioid Cell ◽  
World Health ◽  
Renal Tumors ◽  
Renal Neoplasm ◽  
Renal Cell Carcinomas ◽  
Perivascular Epithelioid Cell ◽  
Variable Morphology ◽  
Health Organization

Aims Translocation-associated renal cell carcinomas (RCCs) have been extensively subcharacterized in recent years, such that each is largely recognized by the 2016 World Health Organization as categorical neoplastic entities in the genitourinary tract. Those belonging to the t(6;11) family of tumors classically have a fusion between TFEB and MALAT1/α, and display a particular histomorphology. Specifically, they show a biphasic population of both small and large epithelioid cells, the smaller component of which surrounds basement membrane-type material. Despite this apt description, the tumors have variable morphology and mimic other RCCs including those with TFE3 translocations. Therefore, a high degree of suspicion is required to make the correct diagnosis. Methods The 2 cases described in this article were of strikingly different appearance, and initially considered consistent with other non-translocation–associated renal tumors. These included clear cell RCC (CCRCC), perivascular epithelioid cell tumor (PEComa), and other eosinophilic RCCs (mainly papillary RCC type 2). Results Using RNA sequencing techniques, they were found to harbor distinct pathogenic rearrangements involving the TFEB gene, namely, fusions with CLTC and NEAT1 (the latter partnering heretofore never reported). Conclusions These alterations manifested in 2 notably dissimilar lesions, underscoring the importance of including this family of carcinomas in the differential of any renal neoplasm that does not display immunophenotypic characteristics consistent with its morphology.

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

2020 ◽  
Vol 2020 ◽  
pp. 1-4 ◽  
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.

A renal epithelioid angiomyolipoma/perivascular epithelioid cell tumor with TFE3 gene break visualized by FISH

2012 ◽  
Vol 45 (4) ◽  
pp. 234-237 ◽  
Author(s):  
Chisato Ohe ◽  
Naoto Kuroda ◽  
Ondrej Hes ◽  
Michal Michal ◽  
Tomas Vanecek ◽  
...  
Keyword(s):  
Epithelioid Cell ◽  
Cell Tumor ◽  
Epithelioid Angiomyolipoma ◽  
Perivascular Epithelioid Cell Tumor ◽  
Perivascular Epithelioid Cell

scholarly journals Renal Epithelioid Angiomyolipoma Associated with Pulmonary Lymphangioleiomyomatosis: Imaging Findings

2017 ◽  
Vol 7 ◽  
pp. 18 ◽  
Author(s):  
Athina C Tsili ◽  
Alexandra Ntorkou ◽  
Maria I Argyropoulou
Keyword(s):  
Renal Mass ◽  
English Literature ◽  
Epithelioid Cell ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Epithelioid Angiomyolipoma ◽  
Pulmonary Lesions ◽  
Computed Tomographic ◽  
Perivascular Epithelioid Cell ◽  
Pulmonary Lymphangioleiomyomatosis

Renal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are the most common tumors of the perivascular epithelioid cell (PEComa) family. Both may be associated with tuberous sclerosis (TS) complex. Epithelioid AML (EAML) is a rare variety of AMLs, with a potential aggressive behavior. There are few reports in the English literature addressing on the imaging findings of renal EAMLs, which are considered nonspecific. We present the sonographic, computed tomographic, and magnetic resonance imaging findings of a renal EAML in a pregnant woman with concomitant pulmonary lesions indicative of LAM, without stigmata of TS. We conclude the importance of considering EAML as a possible diagnosis in the presence of a large renal mass with high cellular content and small amounts of fat in the coexistence of pulmonary LAM.

Pigmented Perivascular Epithelioid Cell Tumor of the Kidney

2009 ◽  
Vol 133 (12) ◽  
pp. 1981-1984 ◽  
Author(s):  
Masaharu Fukunaga ◽  
Tohru Harada
Keyword(s):  
Tumor Cells ◽  
Spindle Cell ◽  
S100 Protein ◽  
Epithelioid Cell ◽  
Cell Tumor ◽  
Cell Renal Cell Carcinoma ◽  
Perivascular Epithelioid Cell Tumor ◽  
Perivascular Epithelioid Cell ◽  
Spindle Cell Proliferation ◽  
Clear Cytoplasm

Abstract A case of pigmented perivascular epithelioid cell tumor of the kidney in a 57-year-old woman with a clinically indicated tuberous sclerosis is presented. The lesion was a 3.0-cm, well-demarcated, black-colored mass. The tumor was histologically characterized by an epithelioid arrangement of round to polygonal cells with round nuclei and clear cytoplasm containing abundant melanin. Tumor cells showed mild atypia and low mitotic activity. A spindle cell proliferation was focally observed. There were no adipose elements or thick-walled vascular vessels. The stroma demonstrated intervening, thin, fibrovascular septa. Immunohistochemically, the tumor cells were strongly positive for HMB-45 but negative for epithelial and muscle markers, vimentin, and S100 protein. The patient had no evidence of disease 3 months after surgery. Pathologists and clinicians should know about the existence of pigmented perivascular epithelioid cell tumor of the kidney. This type of tumor should be differentiated from clear cell renal cell carcinoma or malignant melanoma.

scholarly journals Renal Epithelioid Angiomyolipoma: A Case Report and Review of Literature

2020 ◽  
Vol 35 (5) ◽  
pp. e178-e178
Author(s):  
Rashid Al Umairi ◽  
Ruqaiya Al Shamsi ◽  
Atheel Kamona ◽  
Fatma Al Lawati ◽  
Sadiq Abdul Baqi ◽  
...  
Keyword(s):  
Epithelioid Cell ◽  
Malignant Potential ◽  
Renal Neoplasm ◽  
Review Of Literature ◽  
Resonance Imaging ◽  
Epithelioid Angiomyolipoma ◽  
Renal Masses ◽  
Perivascular Epithelioid Cell ◽  
History Of ◽  
Histopathology Examination

Epithelioid angiomyolipoma (EAML) is an uncommon renal neoplasm with malignant potential. It is classified under the group of perivascular epithelioid cell tumors and can be sporadic or as part of the tuberous sclerosis complex. On imaging, unlike classical AML that contains fat, EAML has a very low percentage of fat which can mimic the imaging findings of renal cell carcinoma. We reported a 31-year-old female who had a history of renal failure and bilateral renal masses. Magnetic resonance imaging of the abdomen revealed bilateral large renal masses replacing renal parenchyma with features suggestive of bilateral renal AML. The patient underwent left nephrectomy, and histopathology examination findings were consistent with the diagnosis of EAML.

scholarly journals Large Retroperitoneal Perivascular Epithelioid Cell Neoplasm (PEComa): A Case Report and a Brief Review

2021 ◽  
pp. 1-6
Author(s):  
Giorgio Lucandri ◽  
Giorgio Lucandri ◽  
Marco Maria Lirici ◽  
Alessia Fassari ◽  
Vito Pende ◽  
...  
Keyword(s):  
Case Report ◽  
Immunohistochemical Staining ◽  
Correct Diagnosis ◽  
Distant Metastases ◽  
Complete Removal ◽  
En Bloc Resection ◽  
Epithelioid Cell ◽  
Bloc Resection ◽  
En Bloc ◽  
Perivascular Epithelioid Cell

Objective: To describe a case of retroperitoneal perivascular epithelioid cell tumor (PEComa) and to discuss the main features of this rare pathology. Introduction: PEComas represent a rare cluster of neoplasms with uncertain origin; their precursor cells are spindle-shaped and characterized by a myomelanocytic phenotype, so only immunohistochemical staining makes a definitive diagnosis possible. To date, less than three hundred cases are reported in Literature and retroperitoneal site accounts for 7-8% of overall locations. Case Report: Middle-aged female has visited for abdominal pain and urinary complaints; physical findings and imaging demonstrated a huge inhomogeneous mass occupying right abdomen and arising from renal capsule. After multidisciplinary evaluation, patient has been addressed to open surgery and an en-bloc resection of the mass, with right nephrectomy and adrenalectomy. Immunohistochemical staining made a diagnosis of PEComa possible. After an uneventful postoperative stay, the patient entered a follow up protocol, without signs of local recurrence and distant metastases. Conclusion: Retroperitoneal PEComa often presents as a bulky mass with renal and adrenal involvement. Surgical resection should be aimed to obtain a complete removal with negative margins; this makes compartment surgery and en-bloc resection mandatory. Immunostaining is the key methods for a correct diagnosis.

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