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Progressive vascular tumor in infant: A case report and literature review of PIK3CA vascular malformation

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Abstract

Purpose

Vascular anomalies are classified as either vascular tumors or vascular malformations. Vascular malformations can be difficult to diagnose and treat in the pediatric population and can masquerade as malignant processes. Understanding the genetics behind vascular malformations can lead to identification of specific mutations which can be treated with targeted immunotherapy.

Methods

Our case presents a pediatric patient with progressively enlarging vascular malformation despite multiple surgical resections and systemic medical treatments who underwent genetic evaluation and was found to have PIK3CA mutation.

Results

After identification of PIK3CA mutation, our patient was successfully treated with the p110ɑ-specific inhibitor, alpelisib, with both shrinkage of malformation on follow-up imaging as well as gains in her developmental milestones.

Conclusion

Progressive vascular malformations in the pediatric population can be hard to diagnose and treat and are thought to arise from somatic mutations. Our case highlights a patient with progressive malformation despite multiple surgical resections who was successfully treated with targeted immunotherapy after proper identification of genetic mutation.

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Authors and Affiliations

  1. The University of Texas Health Science Center at Houston, Houston, TX, USA

    Allison Medina, Laura Zima, Autumn Atkinson, Neethu M. Menon, Meenakshi Bhattacharjee, Eliana Bonfante, David I. Sandberg, Matthew R. Greives & Manish Shah

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  1. Allison Medina
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  2. Laura Zima
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Contributions

A.M. wrote the main manuscript text. L.Z. assisted with writing of the main manuscript text. A.A. assisted with the diagnosis of the patient. N.M. assisted with the diagnosis of the patient. M.B. assisted with tissue diagnosis of the patient. E.B. assisted with radiographic diagnosis and preparing figures. D.S. assisted with surgical resection and diagnosis. M.G. assisted with surgical resection. M.S. was the primary surgeon and assisted with diagnosis and treatment of the patient. He is the most senior author of the paper. All authors reviewed the manuscript.

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Correspondence to Allison Medina.

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Medina, A., Zima, L., Atkinson, A. et al. Progressive vascular tumor in infant: A case report and literature review of PIK3CA vascular malformation. Childs Nerv Syst 40, 1005–1010 (2024). https://doi.org/10.1007/s00381-024-06290-2

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