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

Giannella, Luca; Carpini, Giovanni Delli; Montik, Nina; Verdecchia, Valeria; Puccio, Francesca Di; Giuseppe, Jacopo Di; Tsiroglou, Dimitrios; Goteri, Gaia; Ciavattini, Andrea

doi:10.3390/diagnostics10080553

Cited by 16 publications

(10 citation statements)

References 21 publications

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“…In general, PEComa shows favorable prognosis [ 4 ], but TFE3-associated PEComas show aggressive behavior (52%of cases) and poor prognosis during follow-up [ 9 , 11 , 12 ]. Folpe et al showed that TFE3 fusion PEComa has an invasive behavior, local recurrence, and metastasis rates of 8.7% and 20.3%, respectively [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

TFE3-associated perivascular epithelioid cell tumor with complete response to mTOR inhibitor therapy: report of first case and literature review

Purwar

Soni

Shukla³

et al. 2022

World J Surg Onc

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Background Perivascular epitheloid cell tumor (PEComas) are characterized by expression of both muscles, most often smooth muscle actin (in ~80% of cases) and melanocytic markers (mainly HMB-45 and Melan A). TFE 3-associated PEComas are new variant which are poorly defined due to their limited reports in literature. These tumors lack response to targeted mTOR inhibitor therapy due to lack of mutation in TSC gene. Hereby, we are reporting a case of TFE3 associated pelvic PEComa showing excellent response to Everolimus. Case presentation A 45-year-old female presented with complaint of abdominal mass and bleeding per vaginum for 4 months. She had a history of total abdominal hysterectomy 3 years back in view of abnormal uterine bleeding and exploratory laprotomy 7 months back to remove some pelvic mass. Imaging suggested of ill-defined heterogenous mass of 9.3 x 9.2 x 16 cm involving the uterus, cervix, and upper 1/3 vagina. Multiple omental and peritoneal deposits were also seen, making probable diagnosis of carcinoma endometrium. USG guided biopsy showed cores of fibrous tissue with the presence of cells in sheets with granular eosinophillic cytoplasm; IHC showed positivity for TFE-3, H Caldesmon, GATA-3, and Melan A- and HMB-45; and Ki 67 index was 35%. The basis of above diagnosis of PEComa was made and she was started on Everolimus; repeat imaging after 3 months of therapy showed complete response. Conclusion We are reporting first case of malignant pelvic TFE 3 PEComa showing response to mTOR therapy. Identification of TFE 3 PEComa is important because they showed different biologic behavior then their conventional PEComa.

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Section: Discussionmentioning

confidence: 99%

TFE3-associated perivascular epithelioid cell tumor with complete response to mTOR inhibitor therapy: report of first case and literature review

Purwar

Soni

Shukla³

et al. 2022

World J Surg Onc

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“…The characteristic imaging findings of LAM or PEComa have not been firmly established. According to reports, ultrasound examinations generally tend to show heterogeneous echogenicity and abundant vessels [ 7 , 8 ], whereas MRI findings generally appear as low- and high-signal intensities on T 1- and T 2-weighted images, respectively. However, these findings vary [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

A Case of Uterine Lymphangioleiomyomatosis Complicated by Tuberous Sclerosis Complex

Yamada

Yamanishi

Aratake

et al. 2022

Case Reports in Obstetrics and Gynecology

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Lymphangioleiomyomatosis (LAM) is one of the presentations of perivascular epithelioid cell neoplasm that is frequently complicated by tuberous sclerosis complex (TSC). Here, we report an uncommon case of uterine LAM treated with everolimus, which is a mechanistic target of rapamycin (mTOR) inhibitor. A 42-year-old female patient (gravida 0) with a history of TSC presented with abdominal pain. Pelvic magnetic resonance imaging showed multiple masses in the uterine myometrium, suggesting tumors that may contain internal hemorrhagic components. The lesions were suspected as the root cause of her symptoms. After everolimus was administered for a previously diagnosed renal angiolipoma, her uterine tumors temporarily decreased in size. Subsequently, laparoscopic hysterectomy and bilateral salpingectomy were performed since she could not tolerate everolimus for a long period due to the medication’s side effects. Furthermore, the patient was diagnosed with LAM through histopathological examination after surgical resection. Therefore, it is advisable to suspect and investigate uterine LAM when a patient with a history of TSC presents with irregular genital bleeding or abdominal pain. Moreover, mTOR inhibitors may be a treatment option, in addition to surgery, in cases of uterine LAM exacerbation.

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“…In general, PEComa shows favourable prognosis, [4] but TFE3 associated PEComas show aggressive behaviour (52%of cases) and poor prognosis during follow up [9,11,12]. Folpe et al, showed that TFE3 fusion PEComa has an invasive behaviour, local recurrence and metastasis rates of 8.7% and 20.3%, respectively [4].…”

Section: Discussionmentioning

confidence: 99%

TFE3 Associated Perivascular Epithelioid Cell Tumor with Complete Response to mTOR Inhibitor Therapy: Report of First Case and Literature Review

Purwar

Soni

Shukla³

et al. 2021

Preprint

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Background: Perivascular epitheloid cell tumor (PEComas) are characterised by expression of both muscles, most often smooth muscle actin (in ~80% of cases) and melanocytic markers (mainly HMB-45 and Melan A). TFE 3 associated PEComas are new variant which are poorly defined due to their limited reports in literature. These tumors lack response to targeted mTOR inhibitor therapy due to lack of mutation in TSC gene. Hereby we are reporting a case of TFE3 associated pelvic PEComa showing excellent response to Everolimus. Case presentation: A 45-year-old female presented with complaint of abdominal mass and bleeding per vaginum for 4 months. She had a history of total abdominal hysterectomy 3 years back in view of abnormal uterine bleeding and exploratory laprotomy 7 months back to remove some pelvic mass. Imaging suggested of ill-defined heterogenous mass of 9.3 x 9.2 x 16 cm involving uterus, cervix and upper 1/3 vagina. Multiple omental and peritoneal deposits were also seen, making probable diagnosis of carcinoma endometrium. USG guided biopsy showed cores of fibrous tissue with presence of cells in sheets with granular eosinophillic cytoplasm, IHC showed positivity for TFE -3, H Caldesmon, GATA-3, Melan A-and HMB-45, Ki 67 index was 35%. On the basis of above diagnosis of PEComa was made and she was started on Everolimus, repeat imaging after 3 months of therapy, showed complete response.Conclusion: We are reporting first case of malignant pelvic TFE 3 PEComa showing response to mTOR therapy. Identification of TFE 3 PEComa is important because they showed different biologic behaviour then their conventional PEComa.

show abstract

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

Cited by 16 publications

References 21 publications

TFE3-associated perivascular epithelioid cell tumor with complete response to mTOR inhibitor therapy: report of first case and literature review

TFE3-associated perivascular epithelioid cell tumor with complete response to mTOR inhibitor therapy: report of first case and literature review

A Case of Uterine Lymphangioleiomyomatosis Complicated by Tuberous Sclerosis Complex

TFE3 Associated Perivascular Epithelioid Cell Tumor with Complete Response to mTOR Inhibitor Therapy: Report of First Case and Literature Review

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