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- Title
From factor V Leiden mutation to vascular leiomyosarcoma – a medical challenge.
- Authors
Goga, Iolanda; Moraru, Mihaela; Cioc, Enache; Nichita, Adriana-Monica; Dumitrescu, Elena-Adriana; Gheorghe, Adelina-Silvana; Stănculeanu, Dana-Lucia; Zob, Daniela-Luminița
- Abstract
Vascular leiomyosarcoma, an extremely rare tumor, is characterized by aggressiveness and a high likelihood of local recurrence and metastasis. It tends to affect women more frequently and is included in the category of malignant soft tissue tumors, representing less than 1% of all malignant tumors in adults. We present the case of a 42-year-old female diagnosed with factor V Leiden mutation and a history of deep iliofemoral venous thrombosis. In February 2022, the patient was urgently admitted with chest pain and hemoptysis. Computed tomography (CT) revealed a massive bilateral pulmonary embolism (PE), with progression under heparin therapy, leading to the decision to implant an inferior vena cava filter. Further evaluation involved consultations with specialists in hematology, rheumatology, gastroenterology and general surgery, due to the various symptomatology, including persistent abdominal pain, which raised the suspicion of enteric ischemia. Computed tomography angiography (CTA) identified a possible tumorous lesion in the iliac veins, leading to an oncology consultation and biopsy, which confirmed the diagnosis of vascular leiomyosarcoma with secondary pulmonary metastases. The patient underwent six cycles of first-line chemotherapy with doxorubicin and ifosfamide. In September 2022, the imaging assessment indicated a stationary aspect of the disease, and the treatment with tyrosine kinase inhibitor was initiated, the patient currently having a very good performance status. In conclusion, due to its rarity and unusual clinical course, the diagnosis and treatment of vascular leiomyosarcoma present challenges for the multidisciplinary medical team.
- Subjects
LEIDEN (Netherlands); FACTOR V Leiden; LEIOMYOSARCOMA; SOFT tissue tumors; SURGERY; VENA cava inferior; VENOUS thrombosis
- Publication
Oncolog-Hematolog, 2023, Issue 64, p35
- ISSN
2066-8716
- Publication type
Article