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PIK3CA-Related Overgrowth Spectrum
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PIK3CA-Related Overgrowth Spectrum Overview

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Learn About PIK3CA-Related Overgrowth Spectrum

What is the definition of PIK3CA-Related Overgrowth Spectrum?
PIK3CA-related overgrowth spectrum is a term used to describe a group of rare genetic disorders that cause an overgrowth of body parts. This overgrowth of body parts is caused by mutations in the PIK3CA gene that assists in cell growth.
What are the symptoms of PIK3CA-Related Overgrowth Spectrum?
Symptoms of PIK3CA-related overgrowth spectrum disorders depend on the subtype. Symptoms of PIK3CA-related overgrown spectrum disorders can include overgrowth of muscles, fingers, toes, arms, legs, trunk, or brain; intellectual disability; autism; language disorders; seizures; blood clots; lip malformation; face and neck malformation; fatty tissue overgrowth; vascular malformations; moles; bone abnormalities; port-wine stains; prominent veins; pulmonary embolism; scoliosis; spinal cord compression; kidney abnormalities; gastrointestinal bleeding; genitourinary tract bleeding; heart failure; extra fingers or toes; lipomas; enlarged teeth; enlarged tongue; neuromas; lymphatic malformations; and nerve disorders.
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What are the current treatments for PIK3CA-Related Overgrowth Spectrum?
Treatment for PIK3CA-related overgrowth spectrum disorders depends on the subtype and the symptoms. Treatments for PIK3CA-related overgrowth spectrum disorders may include targeted therapy, such as alpelisib; laser ablation; sclerotherapy; anticoagulation therapy; surgery; orthotics; brain shunt placement; anti-seizure medications; physical, occupational, and speech therapy; and special education.
Who are the top PIK3CA-Related Overgrowth Spectrum Local Doctors?
Sara M. Tolaney
Elite in PIK3CA-Related Overgrowth Spectrum
Dr. Sara M. Tolaney
Oncology
Elite in PIK3CA-Related Overgrowth Spectrum
Dr. Sara M. Tolaney
Oncology
Referral may be required

Dana-Farber Cancer Institute, Breast Oncology Program

450 Brookline Avenue, Susan F. Smith Center For Women's Cancers, 
Boston, MA 
617-632-2335
Languages Spoken:
English
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Dr. Tolaney is Chief of the Division of Breast Oncology at Dana-Farber Cancer Institute, and Associate Professor of Medicine at Harvard Medical School.  She is a breast medical oncologist whose research focuses on the development of novel therapies in the treatment of breast cancer.  She has been instrumental in developing several treatment approaches for breast cancer, including approaches focused on tailoring therapy for early stage HER2+ disease, use of cdk 4/6 inhibitors, antibody drug conjugates, and immunotherapy.She is a member of the National Cancer Institute Breast Cancer Steering Committee and is Vice Chair for Late-Stage Development in Breast Cancer in the Alliance for Clinical Trials in Oncology. Her research has been funded by the Breast Cancer Research Foundation and Susan G. Komen. She currently chairs multiple phase 3 trials in breast cancer and serves on several steering committees for practice-changing trials.  Her work has been published in journals such as the New England Journal of Medicine, Lancet, Lancet Oncology, Journal of Clinical Oncology, and others. She received her undergraduate degree from Princeton University in 1998 and her medical degree from UC San Francisco in 2002. She subsequently completed her residency in Internal Medicine at Johns Hopkins University, and fellowships in hematology and medical oncology at Dana-Farber Cancer Institute. She obtained a Masters in Public Health from the Harvard School of Public Health in 2007. In 2008, she joined the staff of Dana-Farber Cancer Institute and Brigham and Women's Hospital. Dr. Tolaney is rated as an Elite provider by MediFind in the treatment of PIK3CA-Related Overgrowth Spectrum. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Breast Cancer, HER-2 Positive Breast Cancer, Inflammatory Breast Cancer, and Triple-Negative Breast Cancer. Dr. Tolaney is board certified in Medical Oncology.

Sibylle F. Loibl
Elite in PIK3CA-Related Overgrowth Spectrum
Sibylle F. Loibl
Elite in PIK3CA-Related Overgrowth Spectrum
Sibylle F. Loibl
Referral may be required
Martin Behaim Str 12, 
Neu Isenburg, HE, DE 

Sibylle Loibl practices practicing medicine in Neu Isenburg, Germany. Ms. Loibl is rated as an Elite expert by MediFind in the treatment of PIK3CA-Related Overgrowth Spectrum. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Breast Cancer, PIK3CA-Related Overgrowth Spectrum, Triple-Negative Breast Cancer, Breast Cancer in Men, and Mastectomy.

 
 
 
 
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Fabrice Andre
Elite in PIK3CA-Related Overgrowth Spectrum
Fabrice Andre
Elite in PIK3CA-Related Overgrowth Spectrum
Fabrice Andre
Referral may be required

Gustave Roussy

Villejuif, FR 

Fabrice Andre practices practicing medicine in Villejuif, France. Mr. Andre is rated as an Elite expert by MediFind in the treatment of PIK3CA-Related Overgrowth Spectrum. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Breast Cancer, PIK3CA-Related Overgrowth Spectrum, Triple-Negative Breast Cancer, Tissue Biopsy, and Mastectomy.

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What are the latest PIK3CA-Related Overgrowth Spectrum Clinical Trials?
The Phenotype and Etiology of Proteus Syndrome
The Phenotype and Etiology of Proteus Syndrome
Enrollment Status: Recruiting
Publish Date: June 18, 2026

Summary: This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, t...

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A Phase Ib/II, Open-label, Multicenter, Randomized Umbrella Study Evaluating the Efficacy and Safety of Multiple Treatment Combinations in Patients With Metastatic Breast Cancer (Morpheus-panBC)
A Phase Ib/II, Open-label, Multicenter, Randomized Umbrella Study Evaluating the Efficacy and Safety of Multiple Treatment Combinations in Patients With Metastatic Breast Cancer (Morpheus-panBC)
Who is this study for: Adult patients with metastatic or inoperable locally advanced triple negative breast cancer
Enrollment Status: Recruiting
Publish Date: June 17, 2026
Intervention Type: Drug
Study Drugs: Capecitabine, Atezolizumab, Ipatasertib, SGN-LIV1A, Bevacizumab, Chemotherapy (Gemcitabine + Carboplatin or Eribulin), Selicrelumab, Tocilizumab, Nab-Paclitaxel, Sacituzumab Govitecan
Study Phase: Phase 1/Phase 2

Summary: This is an umbrella study evaluating the efficacy and safety of multiple treatment combinations in participants with metastatic or inoperable locally advanced breast cancer. The study will be performed in two stages. During Stage 1, seven cohorts will be enrolled in parallel in this study: Cohort 1 will consist of programmed death-ligand 1 (PD-L1)-positive participants who have received no prior s...

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What are the Latest Advances for PIK3CA-Related Overgrowth Spectrum?
Study on the mechanisms of action of Ephedra sinica Stapf extract in treating acute exacerbation of chronic obstructive pulmonary disease (AECOPD).
Study on the mechanisms of action of Ephedra sinica Stapf extract in treating acute exacerbation of chronic obstructive pulmonary disease (AECOPD).
Journal: Natural product research
Published: June 21, 2026
Mechanism-Based Multitarget Modeling for Pathway-Level Prediction of PI3K/Akt Signaling Perturbation Induced by Liquid Crystal Monomers.
Mechanism-Based Multitarget Modeling for Pathway-Level Prediction of PI3K/Akt Signaling Perturbation Induced by Liquid Crystal Monomers.
Journal: Environmental science & technology
Published: June 18, 2026
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Clinicogenomic Landscape of Histologic Subtypes in Ovarian Cancer: Real-World Evidence From a Japanese Nationwide Cohort.
Clinicogenomic Landscape of Histologic Subtypes in Ovarian Cancer: Real-World Evidence From a Japanese Nationwide Cohort.
Journal: JCO precision oncology
Published: June 12, 2026
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