# 4th Annual International PTEN Symposium: From Patient-Centered Research to Clinical Care

> **NIH NIH R13** · CLEVELAND CLINIC LERNER COM-CWRU · 2021 · $5,000

## Abstract

Project Summary: The 4th Annual International PTEN Symposium: From Patient-Centered
Research to Clinical Care is a unique opportunity to review the latest scientific and clinical
advances in PTEN Hamartoma Tumor Syndrome (PHTS), a rare genetic condition caused by
germline mutations in the PTEN gene that is associated with an increased risk for certain cancers
and benign growths and is one of the most common etiologies for neurodevelopmental
conditions, including autism spectrum disorder. Presented by Cleveland Clinic's Genomic
Medicine Institute and Center for Personalized Genetic Healthcare and endorsed by the PTEN
Hamartoma Tumor Syndrome Foundation and PTEN Italia, the symposium will offer state-of-
the-art information to healthcare providers treating patients with germline PTEN mutations and
provide a forum for members of the PHTS patient community to connect and learn about cutting-
edge PTEN research as well as clinical surveillance and management guidelines. PHTS is a rare,
complex disorder affecting multiple organs over the lifespan with differing manifestations based
on age. Patients with a PTEN mutation require lifetime follow-up for neurological concerns and
cancer risk surveillance as well as familial screening and evaluation. A comprehensive care
model that includes both pediatric and adult specialists familiar with this condition and prepared
to provide optimal care is necessary. Unfortunately, PHTS is not well known to many clinicians
throughout the world. To address this knowledge gap, the program is centered on the following
learning objectives: (1) describe current PTEN translational and clinical research, (2) apply
research information about PHTS to diagnosis, screening, surveillance, guidelines, patient needs,
clinical features and coordination of multidisciplinary team care and (3) demonstrate awareness
and share education about PHTS, leading to timely diagnosis, appropriate surveillance and
improved patient outcomes. Expert Cleveland Clinic and guest faculty will share case-based
presentations and research highlighting the advances of genetics and genomics of PHTS and the
science of PTEN. Topics include neurodevelopment, gynecological cancer risks, cutaneous
findings, hormone use and high-risk patients, and stress and resilience in coping with PHTS. The
program also will incorporate a research panel on PTEN clinical trials and a patient experience
panel on PTEN and family dynamics. The symposium will be held as a live one-day event at the
InterContinental Hotel and Bank of America Conference Center in Cleveland, Ohio and will be
available to virtual attendees via a livestream.

## Key facts

- **NIH application ID:** 10236804
- **Project number:** 1R13TR003732-01
- **Recipient organization:** CLEVELAND CLINIC LERNER COM-CWRU
- **Principal Investigator:** Charis Eng
- **Activity code:** R13 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $5,000
- **Award type:** 1
- **Project period:** 2021-03-10 → 2022-03-09

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10236804

## Citation

> US National Institutes of Health, RePORTER application 10236804, 4th Annual International PTEN Symposium: From Patient-Centered Research to Clinical Care (1R13TR003732-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10236804. Licensed CC0.

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