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Diagnosis

Not actual patients.

A PROS diagnosis is the first step to targeted treatment with VIJOICE

PROS is a spectrum of diverse overgrowth disorders caused by a PIK3CA mutation. Understanding the diagnosis of PROS can help you identify which patients may benefit from VIJOICE, the first and only FDA-approved treatment for patients with PROS. A National Institutes of Health (NIH) workshop* proposed the following diagnostic criteria for PROS1:

NIH Workshop Diagnostic Criteria*

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Congenital or early childhood onset

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Sporadic and mosaic overgrowth

A presumptive PROS diagnosis can be considered based on features if a PIK3CA mutation is not identified1-3

*Clinical diagnostic criteria were determined after a 2-day workshop that included several researchers who have been studying this group of disorders and 3 parent representatives of patient-family support and advocacy organizations for individuals with these conditions. These criteria may change as research develops.1

Find a multidisciplinary team

The International Society for the Study of Vascular Anomalies (ISSVA) has compiled a list of multidisciplinary teams that treat vascular anomalies, which may be a manifestation of PROS. ISSVA believes "that a team environment is the optimal setting for managing the complex problems that arise in treating vascular anomalies."

To view the list of multidisciplinary care teams, click here

References: 
1. Keppler-Noreuil KM, Rios JJ, Parker VER, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287-295. doi:10.1002/ajmg.a.36836
2. Kang HC, Baek ST, Song S, Gleeson JG. Clinical and genetic aspects of the segmental overgrowth spectrum due to somatic mutations in PIK3CA. J Pediatr. 2015;167(5):957-962. doi:10.1016/j.jpeds.2015.07.049.
3. Kuentz P, St-Onge J, Duffourd Y, et al. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genet Med. 2017;19(9):989-997. doi:10.1038/gim.2016.220.