mTOR inhibitor in the treatment of TFE-positive advanced maligmnant PEComa of the uterus: a case report and literature review | Zhong

<!DOCTYPE html> <head lang="en"> <meta http-equiv="content-type" content="text/html;charset=UTF-8"/> <meta name="viewport" content="height=device-height,width=device-width,initial-scale=1,user-scalable=no"/> <title>mTOR inhibitor in the treatment of TFE-positive advanced maligmnant PEComa of the uterus: a case report and literature review | Zhong | Ginekologia Polska</title> <meta name="description" content=""/> <meta name="gs_meta_revision" content="1.1" /> <meta name="citation_journal_title" content="Ginekologia Polska"/> <meta name="citation_issn" content="2543-6767"/> <meta name="citation_author" content="Yaoxiang Zhong"/> <meta name="citation_author_institution" content="Meizhou People's Hospital/Meizhou Academy of Medical Sciences"/> <meta name="citation_author" content="Haikun Yang"/> <meta name="citation_author_institution" content="Meizhou People's Hospital/Meizhou Academy of Medical Sciences"/> <meta name="citation_title" content="mTOR inhibitor in the treatment of TFE-positive advanced maligmnant PEComa of the uterus: a case report and literature review"/> <meta name="citation_online_date" content="2024/10/17"/> <meta name="citation_doi" content="10.5603/gpl.99247"/> <meta name="citation_abstract_html_url" content="https://journals.viamedica.pl/ginekologia_polska/article/view/99247"/> <meta name="citation_language" content="en"/> <meta name="citation_keywords" xml:lang="en" content="gynecologic tumors"/> <meta name="citation_keywords" xml:lang="en" content="mTOR inhibitors"/> <meta name="citation_keywords" xml:lang="en" content="uterine PEComa"/> <meta name="citation_keywords" xml:lang="en" content="TFE"/> <meta name="citation_keywords" xml:lang="en" content="vascular perivascular epithelioid cell cumors"/> <meta name="citation_pdf_url" content="https://journals.viamedica.pl/ginekologia_polska/article/download/99247/79852"/> <link rel="schema.DC" href="http://purl.org/dc/elements/1.1/" /> <meta name="DC.Creator.PersonalName" content="Yaoxiang Zhong"/> <meta name="DC.Creator.PersonalName" content="Haikun Yang"/> <meta name="DC.Date.created" scheme="ISO8601" content="2024-10-17"/> <meta name="DC.Date.dateSubmitted" scheme="ISO8601" content="2024-03-01"/> <meta name="DC.Date.issued" scheme="ISO8601" content="2024-10-17"/> <meta name="DC.Date.modified" scheme="ISO8601" content="2024-10-17"/> <meta name="DC.Description" xml:lang="en" content=" Background: The pre- and intra-operative diagnoses of malignant uterine vascular perivascular epithelioid cell tumors (PEComas) can be challenging, for which the literature is limited. Some cases have been shown to have TSC gene mutations or rearrangements of the MiT factor family, resulting in variable responses to mTOR inhibitors. We report a case of a TFE-positive malignant PEComa of the uterus with pulmonary metastases that responded favorably to the mTOR inhibitor, everolimus. Case presentation: A 52-year-old female underwent a total hysterectomy 5 years ago for suspected sub-serosal or broad ligament fibroids. The intraoperative pathologic diagnosis was leiomyosarcoma of the uterus and the postoperative diagnosis was malignant PEComa of the uterus. The patient declined genetic testing and further treatment. In December 2020 the patient presented with a pelvic mass and underwent open abdominal mass resection and pelvic adhesiolysis. The pathologic findings confirmed recurrent malignant PEComa of the uterus. The pulmonary lesions gradually progressed during the follow-up period, so treatment with everolimus was initiated. Close follow-up evaluation for nearly 3 years showed disease remission without recurrence or progression. Conclusion: The patient described herein had a TFE-positive uterine malignant PEComa with lung metastasis and responded well to the mTOR inhibitor, everolimus. Close follow-up in the last 3 years showed remission without recurrence or progression. "/> <meta name="DC.Format" scheme="IMT" content="application/pdf"/> <meta name="DC.Identifier" content="99247"/> <meta name="DC.Identifier.DOI" content="10.5603/gpl.99247"/> <meta name="DC.Identifier.URI" content="https://journals.viamedica.pl/ginekologia_polska/article/view/99247"/> <meta name="DC.Language" scheme="ISO639-1" content="en"/> <meta name="DC.Rights" content=" By sending the manuscript with figures and charts Authors declare it has been neither published nor submitted for publication elsewhere (excluding abstracts of 250 words or less). Figures or tables that have been published elsewhere must be identified, and written permission of the original copyright owner must be provided. Such responsibility lies entirely with the Authors and PGS and its Publisher will not be liable for violation of anyone’s copyright or other rights by the authors. If the data presented in the article enable identification of the persons, their written consent to the publication must be enclosed. The author(s) also agree(s), if and when the manuscript is accepted for publication, to automatic and free transfer of copyright to the owner (i.e. PSG) allowing for the publication and distribution of the material submitted in all available forms and fields of exploitation. A Transfer of Copyright Form will be sent to the corresponding author at the time of either preliminary or final acceptance. It must be completed and returned to the publisher. The author(s) accept(s) that the manuscript will not be published elsewhere in any language without the written consent of the copyright holder, represented by the Publisher. "/> <meta name="DC.Source" content="Ginekologia Polska"/> <meta name="DC.Source.ISSN" content="2543-6767"/> <meta name="DC.Source.Issue" content="0"/> <meta name="DC.Source.URI" content="https://journals.viamedica.pl/ginekologia_polska"/> <meta name="DC.Source.Volume" content="0"/> <meta name="DC.Subject" xml:lang="en" content="gynecologic tumors"/> <meta name="DC.Subject" xml:lang="en" content="mTOR inhibitors"/> <meta name="DC.Subject" xml:lang="en" content="uterine PEComa"/> <meta name="DC.Subject" xml:lang="en" content="TFE"/> <meta name="DC.Subject" xml:lang="en" content="vascular perivascular epithelioid cell cumors"/> <meta name="DC.Title" content="mTOR inhibitor in the treatment of TFE-positive advanced maligmnant PEComa of the uterus: a case report and literature review"/> <meta name="DC.Type" content="Text.Serial.Journal"/> <meta name="DC.Type.articleType" content="REVIEW PAPERS Gynecology"/> <meta name="keywords" content=""/> <meta name="generator" content=" 2.3.6.0"/> <meta 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</style> </div></div><div class="block leftColumnDyn"><div class="blockContent"><span></span></div></div></div></div> </div> <div class="col-xl-9 col-lg-8 col-12 mainColumn"> <div class="block mainColumn"><div class="blockContent"><div class="mainContent"> </div></div></div> <div class="blockContent"> <script> var ArticleCitationDataFiles2 = { id: '99247', authors: '[{\"firstName\":\"Yaoxiang\",\"middleName\":\"\",\"lastName\":\"Zhong\",\"affililiations\":[{\"userCanEdit\":false,\"_data\":{\"id\":\"75281\",\"creator_id\":\"75041\",\"country\":\"\",\"address\":{\"en_US\":\"\"},\"city\":{\"en_US\":\"\"},\"organization\":{\"en_US\":\"Meizhou People\'s Hospital\\/Meizhou Academy of Medical Sciences\"},\"postalCode\":{\"en_US\":\"\"}},\"_metadataAdapters\":[]}]},{\"firstName\":\"Haikun\",\"middleName\":\"\",\"lastName\":\"Yang\",\"affililiations\":[{\"userCanEdit\":false,\"_data\":{\"id\":\"75281\",\"creator_id\":\"75041\",\"country\":\"\",\"address\":{\"en_US\":\"\"},\"city\":{\"en_US\":\"\"},\"organization\":{\"en_US\":\"Meizhou People\'s Hospital\\/Meizhou Academy of Medical Sciences\"},\"postalCode\":{\"en_US\":\"\"}},\"_metadataAdapters\":[]}]}]', doi: "{}", title: "mTOR inhibitor in the treatment of TFE-positive advanced maligmnant PEComa of the uterus: a case report and literature review", language: "en", journal: "Ginekologia Polska", pages: "[\"\"]", keywords: "[\"gynecologic tumors\",\"mTOR inhibitors\",\"uterine PEComa\",\"TFE\",\"vascular perivascular epithelioid cell cumors\"]", abstract: "Background: The pre- and intra-operative diagnoses of malignant uterine vascular perivascular epithelioid cell tumors (PEComas) can be challenging, for which the literature is limited. Some cases have been shown to have TSC gene mutations or rearrangements of the MiT factor family, resulting in variable responses to mTOR inhibitors. We report a case of a TFE-positive malignant PEComa of the uterus with pulmonary metastases that responded favorably to the mTOR inhibitor, everolimus. Case presentation: A 52-year-old female underwent a total hysterectomy 5 years ago for suspected sub-serosal or broad ligament fibroids. The intraoperative pathologic diagnosis was leiomyosarcoma of the uterus and the postoperative diagnosis was malignant PEComa of the uterus. The patient declined genetic testing and further treatment. In December 2020 the patient presented with a pelvic mass and underwent open abdominal mass resection and pelvic adhesiolysis. The pathologic findings confirmed recurrent malignant PEComa of the uterus. The pulmonary lesions gradually progressed during the follow-up period, so treatment with everolimus was initiated. Close follow-up evaluation for nearly 3 years showed disease remission without recurrence or progression. Conclusion: The patient described herein had a TFE-positive uterine malignant PEComa with lung metastasis and responded well to the mTOR inhibitor, everolimus. Close follow-up in the last 3 years showed remission without recurrence or progression.", volume: "0", number: "0", year: "2024", datePublished: "2024-10-17", url: "https://journals.viamedica.pl/ginekologia_polska/article/view/99247", doiurl: "https://doi.org/10.5603/gpl.99247", issn: "{\"print\":\"0017-0011\",\"online\":\"2543-6767\"}", publisher: "VM Media Group sp. z o.o., Grupa Via Medica", }; </script> <div> <div class="articleLandingPage"> <div class="articleTitle"> <h3>mTOR inhibitor in the treatment of TFE-positive advanced maligmnant PEComa of the uterus: a case report and literature review</h3> </div> <div class="authors"> <span data-id="559111"><span class="author-name">Yaoxiang Zhong</span><sup title="Meizhou People's Hospital/Meizhou Academy of Medical Sciences">1</sup></span>, <span data-id="559110"><span class="author-name">Haikun Yang</span><sup title="Meizhou People's Hospital/Meizhou Academy of Medical Sciences">1</sup><a class="orcid-link" data-orcid-id="0009-0002-7116-9519" target="_blank" href="https://orcid.org/0009-0002-7116-9519"><img src="/images/orcid.png" /></a></span> </div> <script> $('.authors > [data-id]').each(function() { var $span = $(this); var authorId = $(this).attr("data-id"); var $a = $('<a href="#author-id-' + authorId + '"></a>') .insertBefore($span).append($span); $a.click(function() { var $authorBox = $('<div class="authorBox"></div>'); var $authorName = $('<h4 class="author-name"></h4>').appendTo($authorBox); $authorName.html($span.find(".author-name").html()); if ($span.find(".orcid-link").length) { var $orcid = $span.find(".orcid-link"); $orcid.clone().appendTo($authorBox).append($('<span class="orcid-id">' + $orcid.attr("data-orcid-id") + '</span>')); } $span.find("sup").each(function() { var $affiliation = $(this); $('<div class="author-affiliation">' + $affiliation.attr("title").trim() + '</div>').appendTo($authorBox); }); new _v.tooltips.tooltip($a, $authorBox, {class: 'affiliationInBox', positionParams: {offsetTop: 10}}); return false; }); }); </script> <div class="articleParameters"> <div class="doi"> <span>DOI:</span> <a href="https://doi.org/10.5603/gpl.99247">10.5603/gpl.99247</a> </div> <div class="doi"> <span>Pubmed:</span> <a href="https://www.ncbi.nlm.nih.gov/pubmed/39469825" target="_blank" style="padding: 0px; display: inline">39469825</a> </div> </div> <div class="articleAbstract"> <h4>Abstract</h4> <div class="articleAbstractText"> <p><strong>Background:</strong> The pre- and intra-operative diagnoses of malignant uterine vascular perivascular epithelioid cell tumors (PEComas) can be challenging, for which the literature is limited. Some cases have been shown to have TSC gene mutations or rearrangements of the MiT factor family, resulting in variable responses to mTOR inhibitors. We report a case of a TFE-positive malignant PEComa of the uterus with pulmonary metastases that responded favorably to the mTOR inhibitor, everolimus. <strong>Case presentation:</strong> A 52-year-old female underwent a total hysterectomy 5 years ago for suspected sub-serosal or broad ligament fibroids. The intraoperative pathologic diagnosis was leiomyosarcoma of the uterus and the postoperative diagnosis was malignant PEComa of the uterus. The patient declined genetic testing and further treatment. In December 2020 the patient presented with a pelvic mass and underwent open abdominal mass resection and pelvic adhesiolysis. The pathologic findings confirmed recurrent malignant PEComa of the uterus. The pulmonary lesions gradually progressed during the follow-up period, so treatment with everolimus was initiated. Close follow-up evaluation for nearly 3 years showed disease remission without recurrence or progression. <strong>Conclusion:</strong> The patient described herein had a TFE-positive uterine malignant PEComa with lung metastasis and responded well to the mTOR inhibitor, everolimus. Close follow-up in the last 3 years showed remission without recurrence or progression.</p> <div class='articleKeywords'> <p> <span class="keywordsLabel strong">Keywords: </span> <span class="subject">gynecologic tumors</span><span class="subject">mTOR inhibitors</span><span class="subject">uterine PEComa</span><span class="subject">TFE</span><span class="subject">vascular perivascular epithelioid cell cumors</span> </p> </div> </div> </div> <div class="block otherGalleysInline"><div class="blockContent"> <div class="otherGalleys"> <h2>Article available in PDF format</h2> <a class="access icon" data-mini-label="PDF" data-mini-icon="view" href="https://journals.viamedica.pl/ginekologia_polska/article/view/99247/79852" class="file" target="_parent"> View PDF </a> <a class="access icon" data-mini-label="PDF" data-mini-icon="download" href="https://journals.viamedica.pl/ginekologia_polska/article/download/99247/79852" class="file" target="_parent"> Download PDF file </a> </div> </div></div> <div class="articleCitations" id="articleCitations"> <h4 class="articleCitationsTitle"> References</h4> <div class="articleCitationsText"> <ol> <li>Saleem A, Narala S, Raghavan SS. 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