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

Luna, Nancy Torres; Mosquera, Jorge Esteban; Comba, Isin Yagmur; Kinaan, Mustafa; Otoya, Jorge

doi:10.1155/2020/5131736

Cited by 6 publications

(5 citation statements)

References 18 publications

(25 reference statements)

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“…Most cases are reported in the fourth decade of life, predominately in the female sex. The organs involved are the uterus, falciparum ligament, and retroperitoneum, lung, breast, cardiac septum, kidney, and gastrointestinal involvement is reported in the liver, rectum, small and large bowel [ 2 , 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Perivascular epithelioid cell tumors (PEComa) are a family of mesenchymal neoplasms that include angiomyolipoma, clear cell "sugar" tumors of the lung, and lymphangiomyomatosis [ 1 ]. PEComa family tumor incidence is high in patients with tuberous sclerosis complex (TSC), a genetic disorder that is autosomal dominant with incomplete penetrance [ 2 ]. The diagnosis is mainly based on histopathological and immunohistochemical analysis.…”

Section: Introductionmentioning

confidence: 99%

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Malignant Perivascular Epithelioid Cell Tumor of the Uterus

Dhanesar¹,

Rengarajan²,

Chakraborty³

2023

Cureus

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Perivascular epithelioid cell tumors (PEComa) are soft tissue tumors. They belong to the family of mesenchymal tumors and include angiomyolipomas, clear cell sugar tumors of the lung, and PEComas not otherwise specified (NOS). Tuberous sclerosis complex 1 (TSC1) and tuberous sclerosis complex 2 (TSC2) gene mutation is associated with PEComa, which causes hyperactivation of the mammalian target of rapamycin (mTOR) signaling pathway. In some cases, transcription factor E3 (TFE3) gene fusion is also observed. They are usually found in middle-aged women with clinical symptoms of abnormal uterine bleeding and pelvic pain. Radical surgical resection with clear margins is the mainstay of the treatment. We encountered a 54-year-old woman who had postmenopausal abnormal uterine bleeding. A hysterectomy was planned, but pelvic adhesions were discovered during the procedure. As a result, she underwent an exploratory laparotomy with hysterectomy, appendectomy, and total omentectomy. The biopsy of the uterus, left ovary, and a small bowel nodule revealed diffuse growth of epithelioid cells with eosinophilic granular cytoplasm with HMB45 staining, which indicated PEComa. A treatment plan with an mTOR inhibitor nab-sirolimus was proposed for the patient. Early detection, a multidisciplinary approach, and timely treatment are crucial for better disease prognosis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Malignant Perivascular Epithelioid Cell Tumor of the Uterus

Dhanesar¹,

Rengarajan²,

Chakraborty³

2023

Cureus

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“…In other eAML cases, the presence of an area of fat density was not reported on imaging. Surgery indications are usually made by the suspicion of adrenocortical carcinoma (D'Antonio et al, 2009;Komarowska et al, 2015;Valeshabad et al, 2019;Torres Luna et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

Primary Epithelioid Angiomyolipoma of Adrenal Gland: Case Report and Literature Review

et al. 2022

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Angiomyolipomas (AMLs) are mesenchymal tumours derived from perivascular epithelioid cells. Although AMLs are generally known as benign and extremely rare epithelioid variants of AML, they may be potentially aggressive. Here we present an adrenal epithelioid AML and the literature review. A 64-year-old female patient was diagnosed with a left adrenal mass detected incidentally on ultrasonography. Preoperative abdominal CT (computed tomography) showed a 95×68 mm heterogeneous contrast enhancement mass lesion in the left adrenal gland. The lesion was hormone inactive in the endocrinological evaluation, and left laparoscopic adrenalectomy was performed. The patient was discharged on the 2nd postoperative day. Pathology was reported as epithelioid subtype AML. The patient has no local recurrence or metastasis in the 18-month follow-up period and imaging. Adrenal epithelioid AML is an extremely rare and potentially aggressive variant. According to the literature, open or laparoscopic adrenalectomy seems to be suitable option for disease management.

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“…Although PEComas have a predilection for deep soft tissue, they can also arise at visceral sites, with the most common being the uterus and gastrointestinal tract 2,3 . Adrenal gland PEComas are very rare and, to our knowledge, have only been documented as case reports 4–6 . Some of these have been referred to as epithelioid angiomyolipomas; however, they lack the classic triphasic morphology of angiomyolipoma and, more importantly, have the potential for aggressive clinical behavior.…”

mentioning

confidence: 99%

“…2,3 Adrenal gland PEComas are very rare and, to our knowledge, have only been documented as case reports. [4][5][6] Some of these have been referred to as epithelioid angiomyolipomas; however, they lack the classic triphasic morphology of angiomyolipoma and, more importantly, have the potential for aggressive clinical behavior. In the adrenal gland, PEComas may be particularly difficult to recognize, given their morphologic overlap with much more common adrenal cortical adenomas and carcinomas.…”

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confidence: 99%

PEComa of the Adrenal Gland

Wakefield,

Sadow,

Hornick

et al. 2023

American Journal of Surgical Pathology

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PEComas are a family of mesenchymal neoplasms composed of histologically distinctive perivascular epithelioid cells which demonstrate myomelanocytic differentiation. PEComas of the adrenal gland are very rare and can represent a considerable diagnostic challenge given their morphologic overlap with more common adrenal cortical neoplasms. We present the clinicopathologic features of 7 primary adrenal PEComas. The cohort comprised 5 male and 2 female patients with a median age of 63 years (range: 31 to 71 y). One patient had Birt-Hogg-Dubé syndrome and another had Lynch syndrome; however, none had a history of tuberous sclerosis complex. Histologically, tumors showed nested and/or sheet-like growth and epithelioid cytomorphology with pale-to-eosinophilic granular cytoplasm. Two tumors had an admixed spindle cell component. There was a median of 4 mitoses per 10 HPFs (range: 0 to 8). Necrosis was present in 4 tumors and lymphovascular invasion in 1. Four tumors were classified as malignant. By immunohistochemistry, tumors were positive for HMB-45 (3/7), MITF (3/3), Melan-A (3/7), smooth muscle actin (5/7), desmin (5/7), and caldesmon (1/1). Two tumors were positive for TFE3 (2/4). Inhibin and SF1 were negative in all tumors assessed (0/6). Of 3 patients with available clinical follow-up information, 1 patient developed locally recurrent and metastatic disease (at 18 mo) and was alive with persistent disease at the last follow-up. Two patients had no recurrent or metastatic disease at the last follow-up (60 and 25 mo). Although PEComas of the adrenal gland are rare, pathologists need to be alert to this entity in the differential diagnosis of primary adrenocortical neoplasms. In suspected cases, the judicious use of melanocytic and smooth muscle markers, in addition to TFE3 and markers of adrenocortical differentiation (such as SF1 and inhibin) can assist in diagnosis. As in PEComas arising at other visceral sites, an association with tuberous sclerosis complex seems to be uncommon.

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

Cited by 6 publications

References 18 publications

Malignant Perivascular Epithelioid Cell Tumor of the Uterus

Malignant Perivascular Epithelioid Cell Tumor of the Uterus

Primary Epithelioid Angiomyolipoma of Adrenal Gland: Case Report and Literature Review

PEComa of the Adrenal Gland

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