Vascular anomalies are a heterogeneous group of disorders that are currently classified based on their clinical and histological characteristics. Over the past decade, there have been significant advances in molecular genetics that have led to identification of genetic alterations associated with vascular tumors, vascular malformations, and syndromes. Here, we describe known genetic alterations in vascular anomalies, discuss when and how to test, and examine how identification of causative genetic mutations provides for better management of these disorders through improved understanding of their pathogenesis and increasing use of targeted therapeutic agents in order to achieve better outcomes for our patients.
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http://dx.doi.org/10.1002/pbc.29320 | DOI Listing |
J Pediatr Hematol Oncol
January 2025
Cook Children's Medical Center, Fort Worth, TX.
Kaposiform lymphangiomatosis (KLA) is a rare and aggressive subtype of complex lymphatic anomalies (CLA), characterized by abnormal lymphatic proliferation leading to distinct clinical manifestations. Despite the complexity of this condition, there is no established standard therapy, and treatment options such as sclerotherapy, laser therapy, and surgery remain variably effective and are limited to symptom management rather than curative. Sirolimus, an mTOR pathway inhibitor, has shown promise as a primary therapy, particularly in patients without a driver mutation.
View Article and Find Full Text PDFInt J Hematol
January 2025
Associated Department With Mie Graduate School of Medicine, Mie Prefectural General Medical Center, Yokkaichi, Japan.
This study discusses disseminated intravascular coagulation (DIC) associated with solid cancers and various vascular abnormalities, both of which generally exhibit chronic DIC patterns. Solid cancers are among the most significant underlying diseases that induce DIC. However, the severity, bleeding tendency, and progression of DIC vary considerably depending on the type and stage of the cancer, making generalization difficult.
View Article and Find Full Text PDFCureus
December 2024
Neurosurgery, Southmead Hospital, North Bristol NHS, Bristol, GBR.
Cerebral arteriovenous malformations (AVMs) are tangles of abnormal vessels with early arteriovenous (AV) shunting that can lead to intracerebral hemorrhage, seizures, neurologic deficit, or headache. To date, only a few cases of carcinomas metastasizing to pre-existing cerebral AVMs have been reported in the literature. However, renal clear cell carcinoma (RCC) brain metastases that exhibit early AV shunting, where AVM pathology is not present, are extremely rare.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
September 2024
Department of Pediatric Cardiovascular Surgery, Kanazawa Medical University, Ishikawaken, Japan.
Background: The study focuses on vascular compression of the main bronchus in the aortopulmonary space, examining potential contributors within the same axial plane. Its goal is to uncover mechanisms of bronchial compression in patients with intracardiac anomalies and review surgical outcomes, aiming to enhance future results.
Methods: The morphology and topology of structures within the axial plane of the aortopulmonary space were objectively analyzed, including the sternum, ascending aorta, heart, pulmonary artery, descending aorta, and other relevant elements.
Ann Thorac Surg Short Rep
September 2024
Division of Cardio-thoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine at Christus Children's Hospital of San Antonio, Texas.
Aneurysms of the superior vena cava are rare vascular malformations of systemic veins. This report presents the case of a 27-year-old woman with an incidental finding of mediastinal shadow widening on the chest roentgenogram that was confirmed by computed tomographic angiography to be a superior vena cava saccular aneurysm >4 cm in diameter. Surgical resection was recommended on the basis of aneurysmal size and shape and was performed through median sternotomy by using cardiopulmonary bypass.
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