Cowden Syndrome (PTEN) | PTEN Multidisciplinary Clinic: Center of Excellence

Overview

Cleveland Clinic’s PTEN Multidisciplinary Clinic provides clinical services and support 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.

Designated by the PTEN Hamartoma Tumor Syndrome Foundation as one of only three PHTS Clinical Centers of Excellence in the United States, the PTEN Multidisciplinary Clinic is uniquely equipped to meet the health needs of patients with PHTS, CS, or BRRS for which coordinated visits with multiple subspecialists prove helpful. Our clinical team includes subspecialists who have seen and treated other patients and families with PHTS/CS/BRRS for more than 10 years and are knowledgeable regarding these rare syndromes.

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 Center for Personalized Genetic Healthcare, 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 Multidisciplinary Clinic: Center of Excellence.

Our Team

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

Charis Eng, MD, PhD

Brain Tumor Oncology

Glen Stevens, DO, PhD

Breast

Cardiology – Pediatric

Shahnawaz Amdani, MD

Dermatology

Endocrinology – Adults

Christian Nasr, MD

Endocrinology – Pediatric

Anzar Haider, MD

Endocrine Surgery

Gastroenterology – Adults

Gastroenterology – Pediatric

Neurology – Adults

Andrew Dhawan, MD (staff – MaryAnn Mays, MD)

Neurology – Pediatric

Neuropsychology

Robyn Busch, PhD

OB/GYN

Psychology/Behavioral Health – Adult

Karen Hurley, PhD

Pulmonology

Peter Mazzone, MD, MPH

Social Work

Kelly Vitello, LISW-S

Urology

Steven Campbell, MD, PhD

Vascular – Pediatric

Shahnawaz Amdani, MD

Vascular Surgery – Adults

Francis Caputo, MD (non-cardiac, non-neuro)

FAQs

What is the PTEN gene, and what happens when it is mutated?

PTEN is a tumor suppressor gene that helps to control cell growth. PTEN produces an enzyme that helps signal cells to stop dividing. When PTEN is mutated, this enzyme is not properly produced, which can lead to uncontrolled cell growth that causes tumors to form.

Inherited, or germline, PTEN mutations are associated with a group of genetic disorders that increase the risk for certain cancers, cognitive and behavioral deficits, benign growths and tumors (hamartomas) and larger-than-normal heads (macrocephaly). These disorders are known collectively as PTEN hamartoma tumor syndrome.

Should PTEN mutation positive patients receive the COVID-19 vaccine?

No one knows the right answer because COVID-19 is relatively new and there is not yet any research on a link between PTEN mutations and COVID-19. However, PTEN mutation positive patients are considered to have a chronic condition, and so, at this time, we recommend all eligible patients receive the COVID-19 vaccine unless there are contraindications.

What can I expect during my genetics appointment?

You will initially meet with a PTEN research nurse during your genetics appointment who will:

Explain the purpose of your visit
Collect an updated medical and family history
Answer any questions you have about PTEN-related syndromes and your medical management

Dr. Charis Eng will join the appointment virtually and:

Ask you additional questions
Conduct a physical evaluation, as needed, which will be facilitated in-person by a member of the clinical team
Talk to you about research/clinical updates, as needed

We will help you:

Create a management plan for your care moving forward, including what specialist doctors to see

Who do I speak to first to get the scheduling process started?

Please contact the PTEN navigator at 216.444.4044 to schedule an intake call with the PTEN research nurse and begin the scheduling process for the year.

During the 1-hour intake call, the research nurse will:

Gather information about your current medical management
Ask you about your genetic testing history
Talk to you about what specialists you may want to see
Ask you about what dates do not work for you during the year
Answer questions about the clinic
Talk to you about what types of records we will request

Our team will then help you schedule your PTEN-related multi-disciplinary (specialist doctors) appointments.

PLEASE NOTE: The intake call is not a clinical appointment. Please reserve all medical management questions for the genetics and specialist appointments.

Can I schedule virtual appointments with PTEN providers?

The PTEN Clinic genetics appointment must be conducted in-person at Cleveland Clinic. Additional appointments may be completed virtually (even while in Cleveland), but that is at the discretion of each provider.

When will I receive my schedule?

It is difficult to predict how long it will take to complete a schedule once registration and financial clearance are complete. Each specialist has their own practice in addition to being a part of our PTEN Clinic team. We will do everything within our power to schedule your appointments in a timely manner.

You will be emailed a schedule with the dates, times, locations and names of providers. You will be notified by the PTEN navigator if any changes to your schedule are made.
Your first appointment may not always be genetics.
If you have specific questions about non-genetics appointments on your schedule, feel free to contact the provider’s office any time.

What if I have to cancel my appointments?

Please make every attempt to keep the finalized appointments. In a rare situation when appointments must be cancelled, we will make every attempt to reschedule your visit.

To cancel an appointment more than 24 hours in advance: Please contact the PTEN navigator at 216-444-4044. Do NOT cancel your appointments via MyChart or via the Appointment Center hotline.

To cancel an appointment less than 24 hours in advance: Please cancel your appointments via MyChart or via the Appointment Center hotline. Please also notify the PTEN navigator (216-444-4044) that you have cancelled your appointment.

Please note that PTEN Clinic providers are in high demand. If appointments must be cancelled, we unfortunately cannot guarantee that all providers will be available for newly requested dates.

How do I check the status of my schedule?

Please contact the PTEN navigator at 216.444.4044 to receive your current schedule and any schedule updates.

How do I get registered for the PTEN clinic?

If you are a new patient, the PTEN navigator will help you get registered. Registration paperwork must be complete before the scheduling process begins.

All patients must submit updated health insurance and get financially cleared for each of the specialists before an appointment can be made.

How do I send my records?

The PTEN navigator will send you a Records Release Authorization form(s) to sign. We can request records on your behalf from your local providers.

If you have a copy of your records already, you may send them to us after the intake call to PTENrecords@CCF.ORG.

Please note, our specialists only need your most recent PTEN related records (last 1-3 years). If we need additional documents, this will be discussed with you.

Please bring a copy of your imaging CDs to your specialty appointments.

How much will I have to pay for clinical services?

Costs vary by insurance type. You need to contact your insurance company directly and complete a benefits investigation beforehand for each of your clinical appointments to learn about:

Out-of-pocket costs
Remaining deductible
Out-of-network policies
Covered services

Co-pays will be collected at the time of the appointment.

Will I get a bill for research appointments?

Some of our families are participating in a research study. There may be research appointments that are mandatory for the protocol. Research appointments are not billed to your health insurance.

Families may elect to have additional appointments outside of the research protocol. All appointments outside of the research protocol are clinical appointments and will be billed to your health insurance.

When will I receive my clinical genetic testing results?

If testing is needed, you will be provided with a timeline during your genetics visit by a genetic counselor.

Genetic tests that are run through a commercial clinical lab may take 2 to 4 weeks before the results are released to us.

How do I receive consult notes from the appointments and communicate with the specialists?

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. It would be helpful to have a list of your local medical providers available to give the providers you are seeing so that your medical records from your appointments at Cleveland Clinic are sent to everyone you would like to receive a copy.

You may register for Cleveland Clinic MyChart, an online health management tool that connects you to portions of your electronic medical record, including consult notes and testing results from your appointments. You can also contact your specialists following the appointment with non-urgent clinical questions using MyChart message.

MyChart registration

To request your medical records, please follow the instructions found here.

How long can I expect to stay at Cleveland and what are my lodging options?

You may need to be in Cleveland anywhere from one to five days. It is the responsibility of the patient to reserve hotel accommodations.

The PTEN navigator will provide travel and lodging information with your final schedule. You may also contact the Medical Concierge service at Cleveland Clinic for assistance in organizing your travel needs, including hotel recommendations, car rental and other services.

How do I get from one appointment to another?

There are many options for traveling between buildings on main campus.

You may rent a car and drive to each location; or you may wish to walk.
- For a full listing of patient parking options
You may utilize the Cleveland Clinic shuttle service which stops in front of campus locations every 15-20 minutes. Patients and visitors can arrange for a shuttle with any of our Redcoats or Hotel Hospitality specialists, or by calling 216 – 444- 8484.
- For more information about shuttles
You may take a taxi or an Uber, depending on your preference.

Where can I find information about PTEN research studies at Cleveland Clinic?

We currently have two active research studies that are enrolling patients and a clinical trial that is in the data analysis phase. More information can be found here.

If you have any questions, contact the PTEN clinical research team at 216.445.5850 or pten@ccf.org.

Can I enroll myself in the PTEN Study?

We require that a medical provider such as your primary care physician, geneticist, genetic counselor or other provider complete study enrollment and take responsibility for receiving research results.

I have not had clinical genetic testing done. Can I still enroll in the PTEN study?

Patients must meet the eligibility requirements found here in order to be considered eligible for the study. If (you/they) meet the requirements, you may be able to enroll without having had clinical genetic testing.

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.

Research Studies

Cleveland Clinic's PTEN Multidisciplinary Clinic is committed to spearheading PTEN research efforts. We are grateful for you and your families for making these studies possible. The PTEN clinical research team has been actively revising some study-related protocols to make your participation more streamlined.

We currently have two active research studies that are enrolling patients and a clinical trial that is in the data analysis phase.

If you have any questions, contact the PTEN clinical research team at 216.445.5850 or pten@ccf.org.

Patient Testimonial

"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

Resources

Helpful Contacts

India Clayton
PTEN Clinic Navigator
Phone: 216.444.4044
Email: pten@ccf.org

Beth Crouser, MBA
PTEN Study Research Coordinator ll
Email: pten@ccf.org

Lisa Bandy
Patient Service Specialist

Sheree Garner
Patient Access Coordinator

Cleveland Clinic Billing Representative
For all billing, insurance and financial assistance questions
Phone: 844.500.9451 | 866.621.6385

Websites for additional resources

PTEN Newsletter Sign Up