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KNG1 mutations (c.618 T > G and c.1165C > T) cause disruption of the Cys206-Cys218 disulfide bond and truncation of the D5 domain leading to hereditary high molecular weight kininogen deficiency.
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.
Precision medicine in diagnosis, prognosis, and disease monitoring of bone and soft tissue sarcomas using liquid biopsy: a systematic review.
Arch Orthop Trauma Surg
January 2025
Department of Orthopaedics and Trauma, Medical University of Graz, Auenbruggerplatz 5, 8036, Graz, Austria.
Introduction: Liquid biopsy as a non-invasive method to investigate cancer biology and monitor residual disease has gained significance in clinical practice over the years. Whilst its applicability in carcinomas is well established, the low incidence and heterogeneity of bone and soft tissue sarcomas explains the less well-established knowledge considering liquid biopsy in these highly malignant mesenchymal neoplasms.
Materials And Methods: A systematic literature review adhering to the PRISMA guidelines initially identified 920 studies, of whom 68 original articles could be finally included, all dealing with clinical applicability of liquid biopsy in sarcoma.
First Case Report of Uterine Leiomyosarcoma Diagnosed After Transcervical Fibroid Ablation.
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 PDFNovel Therapeutics in Soft Tissue Sarcoma.
Cancers (Basel)
December 2024
Sarcoma Unit, The Royal Marsden Hospital and Institute of Cancer Research, London SW3 6JZ, UK.
There has been noteworthy progress in molecular characterisation and therapeutics in soft tissue sarcomas. Novel agents have gained regulatory approval by the FDA. Examples are the tyrosine kinase inhibitors avapritinib and ripretinib in gastrointestinal stromal tumours (GIST), the immune check point inhibitor atezolizumab in alveolar soft part tissue sarcoma, the γ-secretase inhibitor nirogacestat in desmoid tumours, the NTRK inhibitors larotrectinib and entrectinib in tumours with fusions, the mTOR inhibitor nab-sirolimus in PEComa, and the EZH-2 inhibitor tazemetostat in epithelioid sarcoma.
View Article and Find Full Text PDFCellular Schwannoma Arising After the Resection of an Anterior Mediastinal Leiomyosarcoma.
Ann Thorac Surg Short Rep
December 2024
Department of General Thoracic Surgery, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Kure, Japan.
Cellular schwannoma is a schwannoma subtype with histopathologic features resembling those of malignant tumors. We report a case of a cellular schwannoma arising at the resection margin of an anterior mediastinal leiomyosarcoma. An 88-year-old woman who had undergone resection of an anterior mediastinal leiomyosarcoma 2 years previously developed a mediastinal tumor at the resection margin, raising suspicion of leiomyosarcoma recurrence.
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