The diagnosis and treatment of vascular malformations is a typical example of a condition that requires an approach transcending narrowly defined disciplinary or age-specific boundaries. The causes of vascular malformations are genetic mutations in signaling pathways responsible for the formation and development of blood vessels. These pathways are well known and can be therapeutically influenced by targeted oncology drugs. The pathophysiology of the development of these malformations explains why they can appear, and in any part of the body, they may eventually be associated with other somatic disorders, which then affect the way these patients are cared for. Historically, these conditions have been described in the literature in a rather promiscuous and confused manner. It was not until the international classification of vascular anomalies in 2018 and the gradual discovery of the genetic causes of these conditions that a much-needed system was brought to the diagnosis and care of these patients (https://www.issva.org/).
Patients with vascular malformations are still overwhelmingly managed only in narrowly defined and specialized fields, and there is a complete lack of interconnection of individual specialties, sharing of care and coordination of transfer of patients from pediatric to adult care. Traditionally, these patients have been cared for by dermatologists, as most patients with vascular malformations also have some form of skin involvement. However, this is only part of the overall picture and is usually not the main or most burdensome symptom for the patient.
Experts in the fields of radiology and interventional radiology, surgery, molecular biology, pathology, pharmacy, clinical oncology, and hematology, along with other organ- or age-specific specialties (e.g., dermatology, ENT, orthopedics, surgery, pediatrics, etc.) must be involved in the diagnosis and care.
Excellent coordination and collaboration among various specialties are essential to ensure adequate molecular genetic diagnostics (in most cases based on tissue biopsy) and, once the diagnosis is established, an adequate treatment plan utilizing both local treatments (surgery, dermatology, interventional radiology) and, if necessary, systemic treatments (clinical oncology and clinical hematology).
This is met by running a center combining physicians with board certifications across the age spectrum for systemic treatment with expertise in molecular diagnostics and a physician specializing in local treatment. This is also the way in which international centres are organized (https://vascern.eu/group/vascular-anomalies) as part of the European Reference Network, to which we were invited this year. For this purpose, a Multidisciplinary Indication Board for the Diagnosis and Treatment of Vascular Malformations was established at the University Hospital Brno (more information) (head of the Board Prof. Jaroslav Sterba, M.D., Ph.D., Deputy Olga Koskova, M.D., Ph.D.). Molecular diagnostics is carried out in collaboration with the CEITEC MU laboratories and the Department of Biology, Faculty of Medicine, MU (more information) (group of Prof. Slaby, Petra Pokorna), where examinations are carried out using a targeted sequencing panel for vascular malformations. Since sequencing began in 2021, over 80 patients have already been examined, and approximately one-third of them have been successfully treated with targeted drugs typically used in cancer treatment, based on molecular findings.
Contact person:
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Prof. Jaroslav Sterba, M.D., Ph.D.Head of the Department of Pediatric Oncology, University Hospital Brno and Faculty of Medicine, Masaryk University Email: |