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dc.contributor.authorFindakly, Dawood
dc.contributor.authorWang, Jue
dc.date.accessioned2020-09-05T01:04:19Z
dc.date.available2020-09-05T01:04:19Z
dc.date.issued2020-04-16
dc.identifier.citationFindakly D, Wang J (April 16, 2020) Molecular Profiling of Benign Metastasizing Leiomyoma of the Uterus Revealing Unique Novel Therapeutic Targets. Cureus 12(4): e7701. doi:10.7759/cureus.7701en_US
dc.identifier.issn2168-8184
dc.identifier.doi10.7759/cureus.7701
dc.identifier.urihttp://hdl.handle.net/10150/642584
dc.description.abstractExtra-uterine manifestations of benign uterine leiomyoma (fibroids) are rare. Benign metastasizing leiomyoma (BML) comprises an uncommon variant characterized by metastatic lung nodules. The pathologic characteristics for BML are well known in the literature; however, the underlying biology and molecular mechanisms remain poorly understood. We present a case of a 43-year-old woman who presented to the hospital complaining of dyspnea and lower extremity edema. Medical history includes a previous hysterectomy for leiomyomata two years prior. A reduced ejection fraction and right atrium globular filling defect are seen on transthoracic echo (TTE). CT scans of the chest, abdomen, and pelvis reported pelvic mass with an extensive inferior vena cava (IVC) thrombus extending into the right atrium, which was subsequently completely resected. Subsequent histopathology for the thrombus reported intravascular leiomyomatosis (IVL) and pelvic mass reported benign leiomyoma. Two years later, the symptoms recurred, and a chest CT revealed new pulmonary nodules. Subsequent pathology from a biopsy of these nodules was consistent with BML with ER+/PR+ on immunohistochemical staining. Genetic testing showed amplification of JUN, cyclin-dependent kinase 4 (CDK4), and MCL1, and loss of SUFU, AT-rich interaction domain 1A (AR1D1A), RB transcriptional corepressor 1 (RBI), and hepatocyte nuclear factor 1-alpha (HNF1A). The patient deemed to be a poor surgical candidate, and, therefore, she was started on hormonal treatment with leuprolide and letrozole. The disease remained stable upon follow-up at 48 months. Here, we report novel genomic profiling findings for the first time in a patient with a newly diagnosed BML. These findings may suggest molecular evidence that IVL may not be as benign as previously thought. Our study further highlights the value of genetic profiling in the understanding of this tumor's behavior and identification of new patient-specific therapeutic targets.en_US
dc.language.isoenen_US
dc.publisherCUREUS INCen_US
dc.rightsCopyright © 2020 Findakly et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0.en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en_US
dc.subjectbenign metastasizing leiomyoma (bml)en_US
dc.subjectintravascular leiomyomatosis (ivl)en_US
dc.subjectuterine leiomyomaen_US
dc.subjectmolecular analysisen_US
dc.titleMolecular Profiling of Benign Metastasizing Leiomyoma of the Uterus Revealing Unique Novel Therapeutic Targetsen_US
dc.typeArticleen_US
dc.contributor.departmentUniv Arizona, Canc Ctr Dign Hlth St Josephsen_US
dc.identifier.journalCUREUSen_US
dc.description.noteOpen access journalen_US
dc.description.collectioninformationThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at repository@u.library.arizona.edu.en_US
dc.eprint.versionFinal published versionen_US
dc.source.journaltitleCureus
refterms.dateFOA2020-09-05T01:04:19Z


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Copyright © 2020 Findakly et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0.
Except where otherwise noted, this item's license is described as Copyright © 2020 Findakly et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0.