Title of Study: The PTEN Study
Nicknames: The PTEN Parsimony Study, Cowden Syndrome Study, PTEN Hamartoma Tumor Syndrome (PHTS) Study
Principal Investigator: Charis Eng, MD, PhD, FACP
Genetic Counselor Coordinator and Study Contact: Jessica Mester, MS, CGC (email: pten@ccf.org)
NEW AS OF SEPTEMBER 22, 2011
For both Outside IRB-Approved and Non-IRB Approved Sites: The downloads page has been updated with new forms which will be effective from September 23, 2011 until September 22, 2012. We will not accept any previous versions of these documents. Thank you in advance!
Brief Description of Study:
This is a multi-faceted research study that combines clinical patient information with DNA, RNA, and protein studies of the PTEN gene and related pathways. Among the many goals of this study, we hope to determine the minimal number of features associated with some likelihood of a PTEN alteration. We are also studying the frequency of particular characteristics, such as cancer diagnoses, among those with PTEN alterations. We ultimately hope that this research will lead to the development of targeted molecular therapies for persons with PTEN alterations. Click here to find our handout "Description of PTEN Study for Potential Participants."
Eligibility Criteria:
Patients may not self-enroll in this study. Enrollment must be facilitated by a health care provider (genetic counselor, doctor, nurse, etc.) able to take responsibility for receiving the patient’s results:
If you have questions about eligibility, please e-mail or fax the patient’s pedigree and a clinical summary to Jessica Mester (email: pten@ccf.org / fax: 216-636-0009 or 216-445-6935).
Please be aware that an OFC (head circumference) measurement is a required data point for all study participants. You may not submit a patient for this study without this measurement. Please ensure that the measurement is documented in the patient’s clinic notes for confirmation purposes.
Exclusion Criteria:
Please do not submit the following:
Methodology:
All samples undergo mutation scanning of the PTEN coding region, exon/intron boundaries, and flanking intronic sequences up to approximately +/-40 bases as well as promoter sequencing. Scanning techniques currently utilized by our lab include DGGE and LightScanner. When an abnormality is noted, sequencing of the section in question is performed to determine the exact nature of the abnormality. Turn-around time for this testing averages 3-6 months, but may be longer dependent on lab workload.
MLPA analysis of all nine PTEN exons will be done for patients who meet the International Cowden Consortium’s criteria for the diagnosis of Cowden syndrome (version 2000, please click here to see these criteria in a new window) as well as for patients with a Bannayan-Riley-Ruvalcaba, Proteus, or Proteus-like syndrome phenotype. Please contact Jessica Mester at pten@ccf.org for questions regarding MLPA eligibility. We are currently unable to estimate the turn-around time for MLPA results.
Results:
Patient results are provided via confidential e-mail to the referring healthcare provider. Per our institutional IRB requirements, the exact nomenclature cannot be disclosed. However, you will be informed if results were negative (no alteration identified) or if a deleterious mutation, single nucleotide polymorphism (SNP), or variant of uncertain significance (VUS) is identified. If a deleterious mutation is identified, we can share the exact mutation nomenclature with the clinical lab of your choice for site-specific mutation confirmation. At present site-specific MLPA analysis is not clinically available, but the clinical lab performing confirmatory studies may appreciate having this information.
Please be aware that we will not release the patient’s results to you until all required study documents have been completed and received.
Enrollment Instructions:
INFORMED CONSENT PROCESS COMPLETELY CHANGED AS OF JULY 7, 2009 – VERY IMPORTANT, PLEASE READ THE FOLLOWING INFORMATION VERY CAREFULLY AND CONTACT RESEARCH STAFF WITH QUESTIONS!
Outside IRB approved sites:
At present, the few institutions who have put our protocol through their institution’s IRB may provide informed consent for patients at their facility. These sites will be receiving our informed consent document once the approval process has been completed and may request additional copies by calling (216) 445-7869. If you are from an approved site, please click here for detailed instructions regarding the proper way to complete the informed consent document and other required study paperwork. Failure to complete this paperwork as described may result in the destruction of the patient’s sample.
IMPORTANT UPDATE EFFECTIVE 12/10/09: MATERIAL TRANSFER AGREEMENT
Each institution seeking IRB appproval must submit a completed Material Transfer Agreement prior to sample shipment for any new research patients. To download the form, please click here. Please follow the following instructions for the agreement.
1. Print out two copies of the MTA.
2. For each printed MTA, complete the following information:
a) In the opening paragraph, fill in the Provider's legal name and place of business; and
b) On the final page, please have the appropriate legal representative of the Provider sign and date both originals of the agreement.
3. Send both signed originals of the MTA to:
Genomic Medicine Institute
Attn: Dawn Caraballo
The Cleveland Clinic
9500 Euclid Avenue, Desk NE-5
Cleveland, OH 44195
Everyone else:
Informed consent must be performed by a member of our research staff before the patient’s blood sample is obtained. Contrary to what has been acceptable in the past, it is no longer possible for you to sign and date where indicated for “Person Obtaining Consent” for your patients. There is also no longer an option to have a patient consented during a scheduled office visit. After you recognize that the patient qualifies for our study, please complete the following and send to us by fax or postal mail. To download the first four items, please click here.
Please do not draw the patient’s blood to send with these documents. After we have received these documents and verified that all information is complete, we will mail the patient a consent document and sample collection kit and contact the subject to consent them. We will email you after we have consented the patient to keep you updated on their involvement. Samples received before the informed consent process has been completed may be destroyed.
Required Documents and other Helpful Information:
Lerner Research Institute
Cleveland Clinic, Mail Code NB21
9500 Euclid Avenue
Cleveland, Ohio 44195
