RESEARCH

This page is dedicated to research that has been undertaken in to PROS:

Here is a website that gives you a detailed explanation of PROS:

https://rarediseases.info.nih.gov/diseases/12182/pik3ca-related-overgrowth-spectrum

The following research papers are collated in date order, for the latest research please scroll down the page:

2012

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome (FULL ARTICLE)

https://www.sciencedirect.com/science/article/pii/S0002929712002625 

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA (ABSTRACT ONLY)

https://www.nature.com/articles/ng.2332

2014

PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation (FULL ARTICLE)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480633/

Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum (FULL ARTICLE)

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.36552

2015

Heterozygous expression of the oncogenic Pik3caH1047R mutation during murine development results in fatal embryonic and extraembryonic defects (FULL ARTICLE)

https://www.sciencedirect.com/science/article/pii/S0012160615002444

Mouse models of human PIK3CA-related brain overgrowth have 1 acutely treatable epilepsy (FULL ARTICLE)

https://cdn.elifesciences.org/articles/12703/elife-12703-v1.pdf

2016

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans (ABSTRACT ONLY)

http://stm.sciencemag.org/content/8/332/332ra43.abstract

Cancer drug could treat blood vessel deformities (FULL ARTICLE)

https://www.sciencedaily.com/releases/2016/03/160330152036.htm

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation (FULL ARTICLE)

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.37758

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (FULL ARTICLE)

 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5019182/

2017

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing (FULL ARTICLE)

https://www.nature.com/articles/gim2016220

Mosaic Disorders and the Taxonomy of Human Disease (FULL ARTICLE)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992089/

Gene Editing With CRISPR-Cas9: The Next Step In Human Evolution Will Be Worth $25 Billion By 2030 (FULL ARTICLE)

https://www.forbes.com/sites/reenitadas/2017/12/14/gene-editing-with-crispr-cas9-the-next-step-in-human-evolution-to-be-worth-25-billion-by-2030/#42703065449f

2018

Gene edited human stem cells provide insights into early human development and complex growth disorder.

2018_STEM_for_Britain_Madsen_3597

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) (FULL ARTICLE)

https://link.springer.com/article/10.1007%2Fs10048-018-0540-1

Lessons for cancer drug treatment from tackling a non-cancerous overgrowth syndrome (FULL ARTICLE)

https://www.nature.com/articles/d41586-018-05365-w

PI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations (FULL ARTICLE)

https://www.nature.com/articles/s41419-017-0064-x.epdf?shared_access_token=Gn8b691O9RMpuItD1jaEP9RgN0jAjWel9jnR3ZoTv0P1nn2bNSjQxgal3VEQrAoAJRWreClIDdNrCcf88YL0238wPlzoeAhGYLjccMDEJ5L-Q0YnEMDiVuCW7o2XuWNv3snJ7V9xkw-QOfmuRi3UYkTJJviov89FEEIxgExkoUU%3D

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum (FULL ARTICLE)

https://www.nature.com/articles/s41436-018-0297-9

Cancer-AssociatedPIK3CAMutationsinOvergrowthDisorders (FULL ARTICLE)

https://www.cell.com/trends/molecular-medicine/pdf/S1471-4914(18)30163-1.pdf

Severe PI3Kinase Overgrowth Syndrome Treated with the AKT Inhibitor Miransertib

 Irvine_ASHG_Final

Update on UK PIK3CA Overgrowth Research

Update on PIK3CA Research_Patients_Oct_2018                     

2019

Open-Label, Phase 1/2 Study of Miransertib (ARQ 092), an Oral pan-AKT Inhibitor, in Patients with PIK3CA-Related Overgrowth Spectrum (PROS): Preliminary Result. (FULL ARTICLE)

https://www.arqule.com/wp-content/uploads/ARQ-092-103_ASHG.pd

Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome (ABSTRACT ONLY)

https://www.cell.com/ajhg/fulltext/S0002-9297(19)30015-1

Oncogenic PIK3CA promotes cellular stemness in an allele dose-dependent manner (FULL ARTICLE)

https://www.pnas.org/content/early/2019/04/03/1821093116

ArQule’s Approach to Rare Overgrowth Diseases: Miransertib, a Portfolio in a ProductPursuing Treatments for Biomarker-Driven Cancers and Rare Diseases (Page 17 onwards for PROS)

http://investors.arqule.com/static-files/164e2b01-45e3-416d-aa93-64defd65b21f

Alpelisib for PIK3CA-Mutated, Hormone Receptor–Positive Advanced Breast Cancer

https://www.nejm.org/doi/full/10.1056/NEJMoa1813904#.XN3JHfAhQEk.twitter