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Complexity of PEComas : Diagnostic approach, molecular background, clinical management.

ABSTRACT: Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal neoplasms with features of both melanotic and smooth muscle differentiation. PEComa morphology is highly variable and encompasses epithelioid to spindle cells often with clear cytoplasm and prominent nucleoli. Molecularly, most PEComas are defined by a loss of function of the TSC1/TSC2 complex. Additionally, a distinct small subset of PEComas harboring rearrangements of the TFE3 (Xp11) gene locus has been identified. By presenting a series of three case reports with distinct features, we demonstrate diagnostic pitfalls as well as the importance of molecular work-up of PEComas because of important therapeutic consequences.

SUBMITTER: Utpatel K

PROVIDER: S-EPMC7286949 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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Complexity of PEComas : Diagnostic approach, molecular background, clinical management.

Utpatel K K Calvisi D F DF Köhler G G Kühnel T T Niesel A A Verloh N N Vogelhuber M M Neu R R Hosten N N Schildhaus H-U HU Dietmaier W W Evert M M

Der Pathologe 20200601 Suppl 1

Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal neoplasms with features of both melanotic and smooth muscle differentiation. PEComa morphology is highly variable and encompasses epithelioid to spindle cells often with clear cytoplasm and prominent nucleoli. Molecularly, most PEComas are defined by a loss of function of the TSC1/TSC2 complex. Additionally, a distinct small subset of PEComas harboring rearrangements of the TFE3 (Xp11) gene locus has been identified. B ...[more]

PMID: 31309284

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Project description:OBJECTIVE. The purposes of this study were to describe the prevalence of background parenchymal uptake categories observed at screening molecular breast imaging (MBI) and to examine the association of background parenchymal uptake with mammographic density and other clinical factors. MATERIALS AND METHODS. Adjunct MBI screening was performed for women with dense breasts on previous mammograms. Two radiologists reviewed images from the MBI examinations and subjectively categorized background parenchymal uptake into four groups: photopenic, minimal-mild, moderate, or marked. Women with breast implants or a personal history of breast cancer were excluded. The association between background parenchymal uptake categories and patient characteristics was examined with Kruskal-Wallis and chi-square tests as appropriate. RESULTS. In 1149 eligible participants, background parenchymal uptake was photopenic in 252 (22%), minimal-mild in 728 (63%), and moderate or marked in 169 (15%). The distribution of categories differed across BI-RADS density categories (p < 0.0001). In 164 participants with extremely dense breasts, background parenchymal uptake was photopenic in 72 (44%), minimal-mild in 55 (34%), and moderate or marked in 37 (22%). The moderate-marked group was younger on average, more likely to be premenopausal or perimenopausal, and more likely to be using postmenopausal hormone therapy than the photopenic or minimal-mild groups (p < 0.0001). CONCLUSION. Among women with similar-appearing mammographic density, background parenchymal uptake ranged from photopenic to marked. Background parenchymal uptake was associated with menopausal status and postmenopausal hormone therapy but not with premenopausal hormonal contraceptives, phase of menstrual cycle, or Gail model 5-year risk of breast cancer. Additional work is necessary to fully characterize the underlying cause of background parenchymal uptake and determine its utility in predicting subsequent risk of breast cancer.

Dataset Information

Complexity of PEComas : Diagnostic approach, molecular background, clinical management.

Publications

Complexity of PEComas : Diagnostic approach, molecular background, clinical management.

Similar Datasets

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