Resources

Download important information about PROS (PIK3CA-Related Overgrowth Spectrum)

 

PROS Fact Sheet

Learn about the genetic cause, diagnosis, and current management landscape of PROS and its associated disorders.

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Partners in PROS Flashcard

Learn about specialists who may help support your patients with PROS at every step of their journey.

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Watch helpful videos about PROS

 

Pros Discuss PROS

Learn from experts about the impact of PROS on patients, the current management landscape, and how a diagnosis can help.

Mechanism of Disease

Discover how PIK3CA mutations are at the root of PROS.

PIK3CA-related overgrowth spectrum (PROS) is an umbrella term that includes rare, phenotypically varied, but overlapping features driven by somatic, gain-of-function mutations in the PIK3CA gene and presents with variable expression. Diagnostic features of PROS may include the presence of somatic PIK3CA mutation, congenital or early childhood onset, and abnormal tissue growth in a sporadic or mosaic pattern. Somatic gain-of-function mutations in the PIK3CA gene, which encodes the catalytic alpha subunit of phosphatidylinositol 3-kinase (PI3K), can result in hyperactivation of the PI3K pathway. This can lead to increased cellular proliferation and abnormal growth of affected tissue. PROS is driven by postzygotic somatic activating mutations in PIK3CA that arise in a mosaic pattern. The stage of embryonic development in which the mutations are acquired determines the mosaicism. PROS-related abnormal growth can range from pleiotropic, severe and/or extensive to tissue specific and localized. Diagnosis of PROS is often based on clinical features, imaging, and/or genetic testing for PIK3CA mutation. However, absence of identification of PIK3CA mutation does not preclude PROS, as low-level mosaicism is observed in many patients. Common features of PROS include congenital or early childhood onset and segmental growth, but clinical presentation of PROS disorders is highly variable. For example, megalencephaly-capillary malformation (M-CM) is a PROS disorder. Macrodactyly is also a PROS disorder. Despite differences in the range of tissues affected and phenotypic severity, both overgrowth disorders are part of the spectrum of PROS because they are caused by PIK3CA mutations. Complications from PROS depend on the site and extent of overgrowth. These complications may include psychological impact, chronic pain, superficial infections, hemorrhages and embolisms, neurologic complications, functional impairments, and cardiac and renal abnormalities. Complications may be debilitating and may lead to early mortality. Management of patients with PROS is tailored to patient-specific manifestations and often involves referral to appropriate specialists and a coordinated, multidisciplinary care team.

 

Access relevant patient advocacy groups

 

K-T Support Group logo

K-T Support Group

Find resources and support for people with Klippel-Trenaunay Syndrome and related conditions.

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CLOVES Syndrome Community logo

CLOVES Syndrome Community

Find resources, educational materials, a patient-led research network, and support for people with CLOVES syndrome and their families.

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Lymphangiomatosis & Gorham's Disease Alliance logo

Lymphangiomatosis & Gorham’s Disease Alliance

The mission of the LGDA is to bring hope to and improve the quality of life of patients with generalized lymphatic anomaly (GLA) (previously known as lymphangiomatosis), kaposiform lymphangiomatosis (KLA), Gorham-Stout disease (GSD), and central conducting lymphatic anomaly (CCLA) (previously known as lymphangiectasia), by providing support to members of the patient community and their families; education for the community, professionals, and the general public; and supporting research that will improve understanding of these diseases and establish best practices for their diagnosis and management.

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M-CM Network logo

M-CM Network

Find information, resources, and patient-centered research for people with M-CM and their families.

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WonderFIL smiles logo

WonderFIL smiles

WonderFIL smiles is a global community for those affected by Facial Infiltrating Lipomatosis (FIL). Our goal is to support people with FIL and their families, and to empower them with information, knowledge, and connectivity.

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Project FAVA logo

Project FAVA

Project FAVA is a 501(c)(3) nonprofit patient advocacy group that promotes awareness of fibroadipose vascular anomalies; educates patients, their families, and the global community; and provides helpful resources to those with FAVA.

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All organizations listed are not-for-profit and/or government agencies, and are independent from Novartis Pharmaceuticals Corporation. Novartis has no financial interest in any organization listed, but may provide occasional funding support to these organizations. All descriptions are copyright of the respective organizations.