Uterine leiomyosarcoma (uLMS) is an aggressive mesenchymal tumor associated with a poor prognosis. Research demonstrates that PARP inhibitors (PARPi) improve disease-stable survival in patients with somatic mutations through the process of synthetic lethality. Therefore, PARPi's may have a role in treating gynecologic malignancies with deleterious mutations. This patient is a 50-year-old female with a history of stage IB uterine leiomyosarcoma, complicated by recurrence along the vaginal cuff and metastases to the lungs. A somatic mutation was identified, and the patient was started on Olaparib for treatment of recurrent disease. The patient has now been disease free for two years. We recommend next generation sequencing be performed to identify functional BRCA1/2 loss in uLMS as PARPi may be a potential targeted therapy for uLMS.
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http://dx.doi.org/10.1016/j.gore.2022.101044 | DOI Listing |
Clin Biochem
January 2025
Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi, China; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China; Key Laboratory of Hematology, Guangxi Medical University, Education Department of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China. Electronic address:
Background: High molecular weight kininogen (HMWK), encoded by the kininogen-1 (KNG1) gene, is a multifunctional glycoprotein closely associated with the initiation of blood coagulation, tumor growth, and other pathological processes.
Objective: We conducted a study on the clinical phenotype, genetic mutations, and molecular pathogenesis of a female patient with uterine leiomyosarcoma, who presented with HMWK deficiency and an isolated prolonged activated partial thromboplastin time (APTT).
Methods: Clinical phenotyping was conducted through APTT mixing studies, quantitative assessments of intrinsic coagulation factor activities, antigen levels of HMWK, and thromboelastography.
J Clin Med
December 2024
Institut für Pathologie und Molekularpathologie, Universitätsspital Zürich, 8091 Zürich, Switzerland.
Uterine fibroids are benign monoclonal neoplasms of the myometrium, representing the most common female pelvic neoplasms globally. Treatments may be invasive, such as hysterectomy and myomectomy, non-invasive, such as medical therapy or focused ultrasound, or minimally invasive, such as transcervical radiofrequency ablation (TFA). To date, more than 12,000 women have been treated worldwide using TFA with the Sonata System.
View Article and Find Full Text PDFBMC Cancer
January 2025
Department of Obstetrics and Gynecology, University Medicine Greifswald, Sauerbruchstr., Greifswald, 17475, Germany.
Background: The diagnosis of rare uterine leiomyosarcoma (uLMS) remains a challenge given the high incidence rates of benign uterine tumors such as leiomyoma (LM). In the last decade, several clinical scores and blood serum markers have been proposed. The aim of this study is to validate and update the pLMS clinical scoring system, evaluating the accuracy of the scoring system by Zhang et al.
View Article and Find Full Text PDFFront Oncol
December 2024
Department of Obstetrics and Gynecology, The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
The distinction between a uterine leiomyosarcoma (uLMS) and a perivascular epithelioid cell neoplasm (PEComa) can be quite challenging. Here we report a 39-year-old woman who underwent a hysteroscopic myomectomy. An intraoperative frozen section pathological examination revealed that the mass was likely to be a mesenchymal malignancy.
View Article and Find Full Text PDFBMJ Open
December 2024
Edinburgh Cancer Centre, Western General Hospital, Edinburgh, UK.
Background: Although rare, uterine sarcomas account for a high proportion of uterine cancer mortality. Treatment options and robust trial data are limited.
Objectives: The TOURISM study (Treatment Outcomes in UteRIne SarcoMa) is a UK-wide study by the National Oncology Trainees Collaborative for Healthcare Research which aimed to characterise this patient cohort.
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