TFE3 Gene Rearrangement in Perivascular Epithelioid Cell Neoplasm (PEComa) of the Genitourinary Tract

Vannucchi, Margherita; Minervini, Andrea; Salvi, Matteo; Montironi, Rodolfo; Raspollini, Maria Rosaria

doi:10.1016/j.clgc.2020.04.004

Cited by 19 publications

(15 citation statements)

References 42 publications

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“…Molecularly, the transcription factor binding to IGHM enhancer 3 (TFE3) and its protein, located on the short arm of chromosome Xp11.23, belong to the microphthalmia-associated transcription (MIT) family [11]. A recent study found that 23% of PEComa have TFE3 gene rearrangements [2].…”

Section: Discussionmentioning

confidence: 99%

Transurethral en bloc resection of a bladder perivascular epithelioid cell tumor (PEComa): a case report

Zeng

Sun

et al. 2022

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Background: Perivascular epithelioid cell tumor (PEComa) is a mesenchymal tumor with distinct histologic and immunologic features. PEComa originating in the bladder is extremely rare clinically, with only 35 cases reported in the English literature so far. We report the first case of bladder PEComa resection by transurethral en bloc resection of bladder tumor (ERBT). Case presentation: A 66-year-old woman presented to our hospital with an ultrasound finding of a slightly strong echogenic mass of about 1.5×1.3×1.3 cm in size on the posterior wall of the bladder. The patient did not have any clinical symptoms during the disease. The enhanced computed tomography and enhanced magnetic resonance imaging after admission both suggested a well-defined isolated nodular mass on the posterior wall of the bladder with significant enhancement on the enhanced scan. The tumor was successfully and completely resected by ERBT. Postoperative pathological examination and immunohistochemical results confirmed that the mass was bladder PEComa. No tumor recurrence was observed in the six-month postoperative follow-up. Conclusions: Bladder PEComa is an extremely rare mesenchymal tumor of the urinary system. When imaging and cystoscopy revealed a nodular mass with an abundant blood supply in the bladder, PEComa should be included in the differential diagnosis of bladder tumors. Surgical resection is currently the main option for the treatment of bladder PEComa. For solitary, with pedicle, narrow-basal, small-sized bladder PEComa, resection of the tumor by ERBT is safe and feasible.

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Section: Discussionmentioning

confidence: 99%

Transurethral en bloc resection of a bladder perivascular epithelioid cell tumor (PEComa): a case report

Zeng

Sun

et al. 2022

Preprint

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“…PEComa unrelated to germline mutations in the TSC1/2 gene are sporadic cases. Some of these cases also have somatic mutations in the TSC1/2 gene [8], and some have other genetic changes [9].…”

Section: Discussionmentioning

confidence: 99%

A Case Report of Multifocal PEComa Affecting the Pancreas and Liver and a Literature Review

Guan

Shen

Huang

2021

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Background: Perivascular epithelioid cell tumor (PEComa) is a rare tumor derived from soft tissues and organs. Its morphology includes several types such as angiomyolipoma, lymphangiomyomatosis and pulmonary clear-cell “sugar” tumor with similar immunophenotype. Multifocal PEComa is a rarer lesion, which would cause confusion in imaging examination and clinical management. We reported a case of multifocal angiomyolipoma in pancreas and liver. At the same time, we reviewed the literature to explore the clinicopathological characteristics and possible pathogenesis of multifocal PEComa.Case presentation: A 28-year-old woman presented with a lesion in the head of the pancreas and liver 5/6 segment respectively, initially suspected of pancreatic tumor with liver metastasis. In the liver mass resection and pancreatic mass biopsy, it was found that the two lesions had similar pathological morphology. The tumor cells were mainly epithelioid and spindle cells arranged in nests pattern and partially radially distributed around blood vessels. The tumors had no malignant manifestations in morphology. Immunohistochemical assay showed that the tumor cells expressed melanocytic and smooth muscle markers. A diagnosis of pancreatic and liver angiomyolipoma was rendered.Conclusion: Based on the case we reported here and the other 12 cases we reviewed for the study, multifocal PEComa with no indications of malignancy based on morphology is biologically benign and has a good prognosis. The lesion may be caused by the blood dissemination of tumor cells rather than metastasis. Radical treatment should not be used in clinical management. In addition, follow-up for PEComa would be long-term, because a second PEComa lesion may appear many years later for the “benign” dissemination of tumor cells.

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“…PEComas unrelated to germline mutations in the TSC1/2 gene are sporadic cases. Some of these cases also have somatic mutations in the TSC1/2 gene[8], and some have other genetic changes [9].…”

Section: Discussionmentioning

confidence: 99%

Multifocal Pancreatic and Liver PEComas Mimic Metastatic Tumors: Case Report and Literature Review

Guan

Shen

Huang

2021

Preprint

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Background: Perivascular epithelioid cell tumor (PEComa) is a mesenchyme tumor derived from soft tissues and organs. Its morphology includes several types such as angiomyolipoma, lymphangiomyomatosis and pulmonary clear-cell “sugar” tumor with similar immunophenotype. Multifocal PEComas are rare lesions, which would confuse imaging examination and clinical management. We reported a case of multifocal angiomyolipomas in the pancreas and liver in a young patient. And we reviewed the literature to explore the clinicopathological characteristics and possible pathogenesis of multifocal PEComas.Case presentation: A 28-year-old woman presented with a lesion in the head of the pancreas and liver 5/6 segment respectively, initially suspected of a pancreatic tumor with liver metastasis. To explore the nature of the lesion, a liver mass resection and a pancreatic mass biopsy were performed at the first operation. After the postoperative pathology was confirmed as an epithelioid angiomyolipoma, the patient underwent a pancreatic segmental resection. After the operation, the patient did not receive any adjuvant treatment and was followed up for 25 months without tumor recurrence or metastasis.Conclusion: Multifocal PEComas present a chronic clinical course and have a good prognosis. Surgical resection is the main treatment. In the diagnosis, in addition to metastatic tumors, multifocal lesions also need to be differentiated with multifocal PEComa; in the treatment, radical treatment should not be performed for this type of disease; in the long-term monitoring of the disease, it is necessary to consider the possibility of a second or a greater number of PEComa lesions even many years later.

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TFE3 Gene Rearrangement in Perivascular Epithelioid Cell Neoplasm (PEComa) of the Genitourinary Tract

Cited by 19 publications

References 42 publications

Transurethral en bloc resection of a bladder perivascular epithelioid cell tumor (PEComa): a case report

Transurethral en bloc resection of a bladder perivascular epithelioid cell tumor (PEComa): a case report

A Case Report of Multifocal PEComa Affecting the Pancreas and Liver and a Literature Review

Multifocal Pancreatic and Liver PEComas Mimic Metastatic Tumors: Case Report and Literature Review

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