For children and adults with a confirmed or possible diagnosis of PTEN Hamartoma Tumor syndrome (PHTS), Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), or other conditions within the PTEN spectrum.
What Is PTEN?
PTEN is one of the body’s many tumor suppressor genes. When they work properly, tumor suppressor genes help to control cell growth. When they are not functioning properly, cells can grow out of control and turn into either benign or malignant tumors. Many people with Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and a few other genetic conditions have been found to have PTEN gene mutations as the cause of their medical concerns. These conditions as a group are referred to as PTEN Hamartoma Tumor syndrome (PHTS). Dr. Charis Eng, our medical director and chairman of the Cleveland Clinic Genomic Medicine Institute, led the research team which in 1997 discovered the causative relationship between the PTEN gene and Cowden syndrome.
What Do We Do?
Some patients with PHTS, CS, or BRRS have health needs for which coordinated visits with multiple subspecialists are helpful. Our clinical team includes healthcare providers who have seen and treated other patients with PHTS/CS/BRRS and are knowledgeable regarding these rare syndromes. Our clinical coordinator can discuss your/your child’s specific needs and help arrange any appropriate visits.
Making an Appointment
Please call 216.636.1768 or e-mail PTEN Cowden Clinic.
Each patient will see Dr. Eng for a clinical genetics assessment, and may be scheduled for visits with these or other providers depending on the patient’s needs and physician availability.
Medical Director and Clinical Cancer Geneticist
Brain Tumor Oncology
High-Risk Breast Care
What to Expect
Before Your Visit
Before your visit, please make sure to have a copy of the medical records from each healthcare facility where you/your child have undergone treatment, testing, evaluation, surgery, or any other medical procedure. You may send a completed copy of the Authorization for the Release of Medical Information (PDF) to each external facility and ask them to send records by fax (if 30 pages or fewer) to 216.445.6935 or postal mail to:
PTEN Study Staff
9500 Euclid Ave. NE50
Cleveland, OH 44195
It would also be helpful to have a list of your local medical providers available to give the clinicians you are seeing so that your medical records from your appointments in Cleveland are sent to everyone you would like to receive a copy.
Traveling to Cleveland
The Medical Concierge service at Cleveland Clinic can assist out-of-state patients organize their travel needs, including hotel recommendations, car rental, and other services.
- Other lodging information
- Maps and directions (Cleveland Clinic Main Campus & Family Health Centers)
Prior to your visit, our team will contact you to have an in-depth discussion regarding a time frame for your trip and what visits may be helpful to you based on your/your child’s personal medical history and needs. Depending on the number and types of providers you’d like to see, your stay in Cleveland may range from one to five days. We will make every effort to coordinate your visits as closely together as possible to help you minimize travel expenses. Once medical records are received, our clinical coordinator will ensure the providers you are seeing have a copy of your relevant records before your visit takes place.
At Your Visit
Once you arrive in Cleveland, if your genetics appointment is not the first visit scheduled, our clinical coordinator will meet briefly with you to review the plan for the week and answer any last-minute questions. During your genetics appointment you will have the opportunity to ask our team any questions you have about PHTS/CS/BRRS and your medical management.
Following Your Visit
After your visit, it may take anywhere from a few days to two weeks for the final clinic notes from your Cleveland Clinic appointments to reach you and the healthcare providers you requested to receive a copy. You are always welcome to recontact any Cleveland Clinic provider you have seen with questions following your visit. We are also glad to communicate personally with any of your local healthcare providers about your case as needed.
Cost & Insurance
Cleveland Clinic has experience working with a broad range of insurance providers. We strongly recommend that you contact your insurance company prior to your appointment date to verify coverage. We are happy to write letters of medical necessity as needed to help you obtain coverage for visit costs. To learn more about billing options and financial assistance, review our billing and insurance information.
Are any visit costs covered by the PTEN research study?
Briefly, no. The PTEN study, in which you/your child may or may not already be a participant, does not cover clinical or travel costs for any patient.
"Working with the Cleveland Clinic and their PTEN Study team delivers calm clarity following what can feel like choppy waters after a diagnosis. Contacting a provider to refer me into the program and traveling to Cleveland were the best medical decisions I have ever made. Where else would a PTEN patient want to be than with Dr. Charis Eng, the geneticist who discovered the gene our mutation is on? Having a single point of Cleveland contact to plan my visit, coordinate my team care, and follow up with questions brought focus and a sense of manageability to my family and me. What more could someone with a rare genetic disorder ask for?"
– Brenda, 37, Iowa