Pigmented/melanocytic malignant perivascular epithelioid cell tumor with TFE3-SFPQ(PSF) rearrangement – a challenging diagnosis of PEComa family of tumors

Szumera-Cieækiewicz, Anna; Kuczkiewicz-Siemion, Olga; Seliga, Katarzyna; Grabowska-Kierył, Magdalena; Tysarowski, Andrzej; Wągrodzki, Michał; Świtaj, Tomasz; Prochorec‐Sobieszek, Monika; Rutkowski, Piotr

doi:10.5114/pjp.2019.93136

Cited by 5 publications

(3 citation statements)

References 18 publications

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“…The histopathology diagnosis of all enrolled patients was reviewed in MSCNRIO by experienced sarcoma pathologists as reported by us before [32], including staining with SMA, Desmin, h-caldesmon, S100p, SOX-10, CD34, ERG, CKAE1/AE3. Cathespin K, HMB-45.…”

Section: Analyzed Groupmentioning

confidence: 99%

Efficacy of Sirolimus Treatment in PEComa–10 Years of Practice Perspective

Świtaj

Sobiborowicz

Teterycz

et al. 2021

JCM

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Perivascular epithelioid cell tumors (PEComa) represent a family of rare mesenchymal tumors resultant from deregulation in mTOR pathway activity. The aim of this study is to evaluate the long-term efficacy of targeted PEComa treatment. We reviewed all consecutive patients with PEComa who started systemic treatment with sirolimus in our reference sarcoma center between January 2011 and August 2020. Histopathology of PEComa was reviewed and confirmed in all cases by a designated sarcoma pathologist. Any surviving progression-free patients were censored at the last follow-up (31 March 2021). Survival curves were calculated according to Kaplan–Meier method and compared with the log-rank test or a Cox proportional hazard model. Fifteen (12 females and 3 males) consecutive PEComa patients were treated. The median age of patients treated systemically was 50 years. Median progression-free survival (PFS) was 4.9 months (95% CI: 3.8-NA) for first-line chemotherapy and was not reached (95% CI: 42.0-NA) for sirolimus as first-line therapy. There was one objective response (OR) in the chemotherapy group. The OR rate reached 73% (11/15 cases) for sirolimus regardless of the treatment line. All patients archived disease control. Three patients died due to disease progression after 55, 32, and 32 months since metastatic disease diagnosis. After a median follow-up of 55.7 (range: 3.2–220) months, the 5 yr OS was 65% (CI 95% 39–100). Our study is the largest single-institution report on PEComa systemic targeted therapy and fills the gap in the field of advanced PEComa care since the FDA/EMEA approval of sirolimus.

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Section: Analyzed Groupmentioning

confidence: 99%

Efficacy of Sirolimus Treatment in PEComa–10 Years of Practice Perspective

Świtaj

Sobiborowicz

Teterycz

et al. 2021

JCM

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“… 5 The second characterized molecular abnormality in the pathogenesis of PEComa is TFE3 translocations that by transcriptional up-regulation activate MET signaling. 6 , 7 In AML related to TSC, numerous usually large tumors are diagnosed with a tendency to bleeding and progressive kidney insufficiency as a result. 8 In approximately 8% of cases of AML, more commonly those associated with tuberous sclerosis, the dominance of epithelial cells is observed in the tumor and they can show characteristics of nuclear atypia resulting in the development of epithelioid angiomyolipoma (EAML).…”

Section: Introductionmentioning

confidence: 99%

Management Strategies for Adults with Locally Advanced, Unresectable or Metastatic Malignant Perivascular Epithelioid Cell Tumor (PEComa): Challenges and Solutions

Czarnecka¹,

Skoczylas²,

Bartnik³

et al. 2023

CMAR

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PEComa (PEC tumor; perivascular epithelioid cell tumors) is a rare group of tumors of mesenchymal origin composed of perivascular epithelioid cells (PEC) with features of melanotic and smooth muscle differentiation. In this article, we would like to present the current treatment options for this group of tumors. PEComas are classified as tumors of uncertain malignant potential because recurrences occur after radical treatment. The primary treatment is surgical resection with negative margins. Due to the different locations of the tumors, often the cooperation of multispecialty surgeons is required during the operations. In locally advanced cases, cytoreduction and HIPEC may be effective but still are an experimental treatment. For nonresectable PEComa chemotherapy, mTOR inhibitors and VEGFR inhibitors are used.

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“…These tumors have been referred to as melanotic PEComas but, due to their rarity, they have been mainly described in case reports and small series. [8][9][10][11] Here, we report a series of 7 melanotic PEComas with associated molecular analyses and clinical follow-up data.…”

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Melanotic PEComa

de la Fouchardiere,

Papke,

Pissaloux

et al. 2023

American Journal of Surgical Pathology

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Perivascular epithelioid cell neoplasms (PEComas) are tumors of uncertain cell lineage that show a strong female predominance. Their hallmark is the presence of combined smooth muscle and melanocytic differentiation. In most cases, melanocytic differentiation is detectable only by immunohistochemistry, but there are rare reports of PEComa with extensive melanin accumulation (so-called “melanotic PEComa”). Here we report a clinicopathologic series of 7 melanotic PEComas that occurred across a wide patient age range of 21 to 82 years (median: 41 y) and with a wide anatomic distribution, including 2 cases in the pelvis and 1 case each in the gallbladder, cervix, eyelid, epidural space, and femur. All tumors were heavily pigmented and, like conventional PEComas, were composed of variably sized neoplastic cells with voluminous granular, or less commonly clear, cytoplasm with prominent nucleoli. All tumors expressed HMB45 by immunohistochemistry, and 6 of 7 showed nuclear TFE3 expression. Where tested, tumors were uniformly negative for Mart-1/Melan-A, S100, desmin, and smooth muscle actin. Molecular analysis identified TFE3 gene rearrangement in 5 of 7 cases, 4 of which were demonstrated by fluorescence in situ hybridization and one by whole-exome RNA sequencing which revealed a SFPQ::TFE3 fusion. The one tumor negative for TFE3 by immunohistochemistry was found instead to harbor a SFPQ::TFEB fusion, the first reported example to our knowledge of TFEB fusion in a PEComa. Clinical follow-up was available for 6 of 7 patients (median: 2.5 y: range: 0.75 to 7 y). The patient whose tumor harbored SFPQ::TFEB died of metastatic disease 9 months after diagnosis. The other tumors behaved in an indolent fashion: 4 patients were alive without evidence of disease at the most recent follow-up and 1 patient died of an unrelated cancer 4 years after diagnosis of the melanotic PEComa. Our results expand the morphologic and molecular spectrum of melanotic PEComa, and awareness of this rare but distinctive subtype is important to ensure accurate diagnosis within the broader family of heavily pigmented neoplasms.

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Pigmented/melanocytic malignant perivascular epithelioid cell tumor with TFE3-SFPQ(PSF) rearrangement – a challenging diagnosis of PEComa family of tumors

Cited by 5 publications

References 18 publications

Efficacy of Sirolimus Treatment in PEComa–10 Years of Practice Perspective

Efficacy of Sirolimus Treatment in PEComa–10 Years of Practice Perspective

Management Strategies for Adults with Locally Advanced, Unresectable or Metastatic Malignant Perivascular Epithelioid Cell Tumor (PEComa): Challenges and Solutions

Melanotic PEComa

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