BackgroundEBV-associated smooth muscle tumours (EBV-SMTs) are uncommon neoplasms associated with immunodeficiency. The pathogenesis of EBV-SMTs is poorly understood. IL-2-inducible T-cell kinase (ITK), a member of the Tec family of tyrosine kinases, is the predominant Tec kinase in T cells. Researchers have shown that ITK is involved in the pathogenesis of autoimmune diseases and carcinogenesis, and the loss of ITK function due to mutation in patients can lead to EBV-associated lymphoproliferation. Multiple Epstein-Barr virus–associated smooth muscle tumours with ITK mutation have rarely been reported.Case presentationA 6-year-old female child was admitted to the hospital due to recurrent bilateral hip pain for more than one year. Tumours were found in the lung, near the intracranial cavernous sinus and in the lumbar spine and paraspinal soft tissues by CT and MRI. The patient underwent vertebral tumour biopsy, which suggested low-grade myogenic or inflammatory myofibroblastic tumours, so the patient was given three courses of chemotherapy without symptom relief or mass reduction. The patient underwent lumbar mass resection, the pathological results indicated EBV-SMT, and a novel germline homozygous deletion mutation in the ITK gene was detected. The deletion mutation in this gene has not yet been reported and the clinical significance of the pathogenicity of the variant is unknown. Intrabronchial mass resection was performed under fibre bronchoscopy, and the pathological results indicated EBV-SMT. No significant recurrence or progression was observed after more than 2 years of follow-up.ConclusionsWe present a rare case of multiple EBV-SMTs combined with ITK gene mutation. Some of the tumours were removed, and some were treated conservatively. There was no significant recurrence or progression after more than two years of follow-up. The optimal treatment regimen still needs to be further explored, and the relationship between ITK gene mutation at this locus and immunodeficiency and EBV-SMT warrants further investigation.
Background: Congenital absence of the internal carotid artery (ICA) is a very rare congenital anomaly of the ICA. Most reports in the literature are of individual cases, and most were diagnosed by computed tomographic angiography (CTA) or digital subtraction angiography (DSA). There are few reports on the diagnosis of congenital absence of the ICA by carotid Doppler ultrasound (CDUS). Case presentation: A 61-year-old male patient who was admitted to the hospital because of dizziness and showed no abnormality on CDUS conducted at another hospital. CDUS conducted at our hospital found maldevelopment of the right common carotid artery (RCCA) with normal a blood flow velocity and spectrum. A high-resistance frequency spectrum could be detected in the “ICA” that continued directly from the RCCA, and two adjacent small blood vessel branches were also observed. Superficial temporal artery tap and tracing of the courses of the small blood vessels confirmed that the RCCA directly continued to the external carotid artery (ECA). The final diagnosis was congenital absence of the ICA, which was confirmed during the clipping of an anterior communicating artery (ACoA) aneurysm.Conclusion: CDUS, as a noninvasive and rapid screening tool for cervical vascular diseases, offers a new approach for the diagnosis of congenital absence of the ICA.
BackgroundExtraskeletal osteosarcoma (ESOS) is a highly malignant osteosarcoma that occurs in extraskeletal tissues. It often affects the soft tissues of the limbs. ESOS is classified as primary or secondary ESOS. Case presentationwe report a case of primary hepatic osteosarcoma in a 76-year-old male patient. The patient had a giant cystic-solid mass in the right liver that was evident on ultrasound and computed tomography. Postoperative pathology and immunohistochemistry of the mass, which was surgically removed, suggested fibroblastic osteosarcoma. No other abnormal lesions were found. Therefore, the patient was diagnosed with primary hepatic osteosarcoma. The hepatic osteosarcoma reoccurred 48 days after surgery, resulting in significant compression and narrowing of the hepatic segment of the inferior vena cava. Consequently, the patient underwent stent implantation in the inferior vena cava and transcatheter arterial chemoembolization. Unfortunately, the patient died of postoperative multiple organ failure.ConclusionsHepatic osteosarcoma is a rare mesenchymal tumor with a short course and a high likelihood of metastasis and recurrence. If a biopsy were to return osteoid in a large liver tumor, ESOS would be suspected. However, there is no evidence-based treatment plan to date. Surgical resection combined with adjuvant chemoradiotherapy seems to be the best treatment option.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.