PEComa of the Terminal Ileum Mesentery as a Secondary Tumour in an Adult Survivor of Embryonal Rhabdomyosarcoma

Hasan, Haroon; Howard, A. Fuchsia; Alassiri, Ali H.; Ng, Tony; McGregor, Gregor I.; Goddard, Karen

doi:10.3747/co.22.2265

Cited by 4 publications

(3 citation statements)

References 27 publications

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“…To date, only 14 cases are reported in the literature. Interestingly, most of these cases exhibited an epithelioid morphology and had favorable outcomes [12,[22][23][24][25][26][27][28][29][30][31]. Thirdly, our patient's tumor presented as an unusually aggressive disease with rapid growth and multiple metastases, fulfilling all 6 highrisk histologic features for malignant PEComas.…”

Section: Discussionmentioning

confidence: 78%

A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report

et al. 2023

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Background Malignant perivascular epithelioid cell tumors (PEComas) are exceedingly rare malignant mesenchymal neoplasms with characteristic morphological and immunohistochemical (IHC) patterns. However, some malignant PEComas are poorly differentiated with atypical histopathological features, making a definitive diagnosis difficult. PEComas are most commonly found in females and often show either TSC1 or TSC2 alterations, which result in the activation of the mTOR pathway, or TFE3 fusions. Given these molecular characteristics, mTOR inhibitors have recently been approved by the FDA in the treatment of malignant PEComas, particularly in those with TSC1/2 alterations. Therefore, molecular analyses may be helpful for both the diagnostic workup of and predicting response to mTOR inhibitors in cases of malignant PEComas. Case presentation Here, we report a case of an aggressive, 23 cm mesenteric malignant PEComa with multiple peritoneal metastases in a young male patient. Pathological examination of the initial biopsy showed a malignant epithelioid neoplasm with high-grade morphology and atypical immunoprofile, which precluded a definitive diagnosis. Because of the patient’s excessive transfusion requirements due to intra-tumoral hemorrhage, a palliative R2 resection was performed. Histopathological examination of the tumor revealed focal immunoreactivity for Melan-A, HMB-45, desmin, and CD117. Although a diagnosis of malignant PEComa was favored, other entities such as epithelioid gastrointestinal stromal tumor (GIST) or melanoma could not be definitively ruled out. Given the favored diagnosis, the patient was started on sirolimus, an mTOR inhibitor, rather than chemotherapy. Molecular analyses were performed and the tumor was found to harbor mutations in TP53 and TSC2, supporting a definitive diagnosis of malignant PEComa. The patient was then switched to nab-sirolimus, with initial stabilization of the disease. Conclusions This report details a multidisciplinary approach for the diagnosis and management of a highly aggressive, metastatic malignant PEComa in a young male patient. The basis for the treatment of malignant PEComas with the recently FDA-approved mTOR inhibitor, nab-sirolimus, is also reviewed. In summary, this case highlights the importance of molecular analysis, particularly TSC1/2 alterations, for both the definitive diagnosis of malignant PEComas and predicting their response to nab-sirolimus.

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Section: Discussionmentioning

confidence: 78%

A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report

et al. 2023

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“…Angiomyolipoma (AML) constitute 3% of solid renal masses (1). Although AMLs are mostly composed of smooth muscle, blood vessels, and fat cells, Epithelioid AML (Perivascular Epithelioid Cell Tumor-PEComa), a type of AML that may show malignant potential, is caused by perivascular epithelial cells (2). 2016 WHO Renal Neoplasia Classification defined Renal Epithelioid AML as a potentially malignant mesenchymal neoplasm (3) PEcoma is in the "Tumors of uncertain differentiation" group in the 2020 WHO classification of soft tissue tumors.…”

Section: Introductionmentioning

confidence: 99%

Renal Epithelioid Angiomyolipoma with Aggresive Progression: A Case Report and Literature Review

Altintas¹,

Batur²,

Kaynar³

et al. 2021

acmr

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Epithelioid cellular morphology can be seen in clinically benign usual (or classic) angiomyolipoma (AML). Perivascular Epithelioid Cell Tumors (PEComa) are rarely seen as a variant of AML and usually benign in nature; however, they may have unpredictable pathological behavior. Here, we present a case of renal PEComa with malignant clinical progression and compare it with the current literature. A 56-year-old patient with a history of recurrent side pain present for about four months applied to our clinic. A hypodense mass was detected on the upper pole of the left kidney by ultrasonography. Computerized tomography showed an 8x4 cm mass originating from the upper pole of the left kidney and the adrenal gland, and was thought to invade the psoas muscle. The patient underwent a left transperitoneal radical nephrectomy. During the operation, vena cava inferior repair was required due to invasion and performed. Histopathologic examination revealed a PEComa. During the third month follow-up visit, a recurrent mass and lymph node enlargement were detected at the operation site. The mass was excised, and histopathology revealed a PEComa again. Considered as a rare variant of AML, PEComa is a tumor with the potential to exhibit malignant behavior. Although only a limited number of cases of renal PEComa have been reported; diagnosis, treatment, and follow-up are important due to their high potential for malignancy.

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“…Perivascular epithelioid cell tumor (PEComa) is a mesenchymal tumor composed of perivascular epithelioid cells with immunohistochemical characteristics of smooth muscle and melanocytic markers. [ 1 ] Although the morbidity of this tumor can happen with either sex, it has a predilection for women. [ 2 ] Unlike typical angiomyolipoma, PEComa can display an aggressive clinical course with a 47% rate of disease progression.…”

Section: Introductionmentioning

confidence: 99%

Pigmented perivascular epithelioid cell tumor (PEComa) arising from kidney

Zhou²,

Xu³

et al. 2016

Medicine

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Introduction:Perivascular epithelioid cell tumor (PEComa) is a mesenchymal neoplasm composed of perivascular epithelioid cells with clear to eosinophilic cytoplasm. Pigmented PEComa arising from kidney is extraordinarily rare and sometimes can exhibit aggressive biological behavior.Case report:We present here a rare case of pigmented renal PEComa in a 46-year-old female. The patient had complained of lumbago complicated with nausea and vomiting for 2 weeks and therefore was referred to our department. An enhanced computed scan revealed a 4 × 3 × 3 cm round-like mass in the lower pole of right kidney with inhomogeneous enhancement. The tumor cells immunestained was positive for HMB-45, focally positive for c-Kit (CD117), and negative for vimentin, S-100, AE1/AE3, CK-7, CK-18, CD-10, RCC antigen, CgA, DOG-1, EMA, smooth muscle actin, and synaptophysin. We successfully performed 3-dimensional laparoscopic resection of the neoplasm, which was then diagnosed as pigmented PEComa by postoperative pathology. No further growing lesion or metastasis was observed during a 1-year follow-up.Conclusion:This case report shows that pigmented renal PEComa is often presented as a renal mass with nonspecific symptoms and imaging features. The gold diagnosis of renal pigmented PEComa is mainly based on the combination of histopathology and immunohistochemistry. Complete resection by 3-dimensional laparoscopic nephron-sparing surgery can be an effective therapeutic management.

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PEComa of the Terminal Ileum Mesentery as a Secondary Tumour in an Adult Survivor of Embryonal Rhabdomyosarcoma

Cited by 4 publications

References 27 publications

A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report

A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report

Renal Epithelioid Angiomyolipoma with Aggresive Progression: A Case Report and Literature Review

Pigmented perivascular epithelioid cell tumor (PEComa) arising from kidney

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