Keynote Lecture: PTEN Hamartoma Tumor Syndrome
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1 Keynote Lecture: PTEN Hamartoma Tumor Syndrome Charis Eng, MD, PhD, FACP Hardis/ACS Professor and Founding Chair, Director, Center for Personalized Genetic Healthcare Medical Director, PTEN/Cowden Multidisciplinary Clinic Cleveland Clinic PTEN Patient Symposium, Mar. 26, 2018
2 Outline Genetics 101 Overview of PTEN hamartoma tumor syndrome (PHTS) PHTS cancer risks Current cancer surveillance guidelines
3 Genetics Cells Cells = Basic Units of the Body Like Bricks to a Building Cell has Nucleus & Cytoplasm Nucleus Command Center Cytoplasm Factory Floor Egg White Egg Yolk
4 Genetics 101- Chromosomes & Genes Chromosomes in cell nucleus Genes reside on chromosomes Genes carry code for proteins Genetic Code = Alphabet of 4 letters A, C, G, T
5 Genetics 101- Proteins Housekeepers Workhorses on factory floor Under instructions from genes, proteins ensure cells behave properly When to multiply (to get more cells) When to stop multiplying
6 Genetics 101- Genes and Mutations in a Nutshell A gene is like an encyclopedia 30,000 genes -> 30,000 encyclopedias Some encyclopedias have 1 or a few volumes; others many volumes PTEN has 9 volum es Words, sentences & paragraphs have to read appropriately Gene Mutation = Typographical Error Word Misspelled Phrase(s)/Sentence(s) Missing Whole Page(s) Missing Searching for a mutation: Looking for that one typo in a many volume encyclopedia Gene Mutation --> Absent Protein or Faulty Protein
7 We Can Read the Encyclopedia(s) and Look for Serious Errors* to Help Predict Those With Disease Outcome Gene Testing to Look for Heritable Cancer Risk Like Reading our Body s Encyclopedias to Look for Serious Errors* *Mutations or Alterations
8 Where s the PTEN Gene? Participation of 12 Cowden syndrome families in research Strict inclusion criteria per International Cowden Consortium
9 PTEN is a Gene on Chromosome 10
10 Many PTEN Mutations Identified Mester & Eng, 2013
11 PTEN Hamartoma Tumor Syndrome (PHTS) PHTS Cowden Syndrome, PTEN Mut+ Proteus-like, PTEN Mut+ BRRS, PTEN Mut + Macrocephaly & autism, PTEN Mut+ Anyone with germline PTEN mutation!
12 PTEN Hamartoma Tumor Syndrome (PHTS) Any patient with germline PTEN mutation Cowden syndrome Bannayan-Riley-Ruvalcaba syndrome (BRRS) Proteus-like syndrome Autism spectrum Areas of greatest clinical concerns Increased malignancy risks Benign tumors Neurodevelopmental issues
13 Family History and PHTS Familial and sporadic (no apparent family history) cases reported PHTS has a high de novo (new) mutation rate Minimum: 10.7% Maximum: 47.6% No correlations with age, gender, or any clinical feature Mester & Eng, 2012
14 How Important is Head Size? Overall: 94% with PHTS macrocephalic ( big head ) Adults Women: >57.8 cm Men: >58.6 cm Dolicocephaly common Nellhaus, 1968; Mester et al., 2011
15 Examples of Benign Growths in PHTS Skin and mucosa Trichilemmomas (hair follicle bumps) Keratoses (rough patches) on extremities Papules on tongue, gums, inside nose Lipomas (fatty bumps) Fibromas Lhermitte-Duclos (benign tumor of the cerebellum) GI polyps Uterine fibroids, other genitourinary tumors Benign breast disease Thyroid nodules/goiter/ Hashimoto s thyroiditis Vascular anomalies/ hemangiomas
16 Cowden Syndrome Trichilemmomas and keratoses Papillomas of skin and tongue/mouth Breast disease/tumors Thyroid disease/tumors Uterine fibroids/tumors Lhermitte-Duclos Macrocephaly Lipomas GI Polyps Hashimoto s thyroiditis BRRS Developmental delays Boys: freckles on penis Vascular anomalies/ hemangiomas
17 Onset of PHTS Features
18 Lifetime Cancer Risk Estimates in Prospective Series of PHTS Individuals Analyzing Cancer Risks in a Large Series of Research Participants Leads to: Understanding Which Organs At Risk Inform which organs need enhanced clinical screening Age Cancer Risks Begin Inform when enhanced clinical screening should begin May inform when preventative surgery should be offered Tan et al. Clin Cancer Res 2012
19 Based on 368 PTEN Mutation Positive Individuals (from 3399 Prospectively Accrued Clinically Eligible Individuals) Lifetime Cancer Risk Estimates in Prospective Series of PHTS Individuals Tan et al. Clin Cancer Res 2012
20 PHTS Cancer Risks and Current Enhanced Screening Recommendations Tan et al., 2012, Ngeow et al. 2014
21 Is There/What is the Second Malignancy Risk in PHTS? 7-Year Multi-Institutional Prospective Study ( ) 2912 Eligible Adult Research Participants 2024 Invasive Cancer Comprehensive PTEN Mutation Analysis of Eligible CS and CSL Individuals 114 of 2024 Germline Pathogenic PTEN Mutations Medical Record and Pathology Review Standardized Incidence Ratios (SIR) Calculated for all Second Malignant Neoplasms (SMNs) Expected Rate Based on SEER
22 Second (Primary) Malignancies (SMNs) in PHTS Of 114 PHTS Adult Participants, 46 (40%) Had SMN Median Age at SMN = 50 yo (21-71) Median Interval between Primary Cancer and SMN = 5 years (<1-35 yr)
23 Risk of Second Malignancy in PHTS Patients Observed Expected SIR (95% CI) All Cancers * (5.8-10) Breast CA * (5.8-13) Thyroid CA * (7-27) RCC (0.5-14) Melanoma ( ) Colon CA (1.3-18) Ngeow et al. J Clin Oncol 2014
24 Age-Related Penetrance Curves for Breast, Thyroid, Endometrial and Renal Cancers Presenting as Second Malignant Neoplasms in PHTS Ngeow et al. J Clin Oncol 2014
25 SMN in PHTS: Take Home Messages? Individuals with Germline PTEN Mutations at Increased Risks of SMN s vs General Population Lifelong Enhanced Surveillance Necessary Prophylactic Mastectomy Considered Given High Risk of Primary and Second Breast Cancers Longer Follow Up of Cohort Necessary Increasing Sample Size Desirable Independent Validation by Another Group Desirable
26 Knowledge is Power: *PTEN Germine Mutation Predisposes to Breast, Thyroid, Uterine, Kidney and Colorectal Cancer, and Melanoma *Therefore: PTEN-Informed Multidisciplinary Care Genetics Evaluation Personal & Family Health History Taking Diagnoses Considered Genetic Counseling Information on Genetics Education re: Gene Testing Blood Drawn: Gene Testing PTEN Test Results Returned Positive With Post-Test Genetic Counseling PTEN-Informed Risk Management Breast, Thyroid, Uterus, Kidney, Colon Multi-Care Team
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28 Who is Eligible for Our 8458 ( original ) PTEN Study? Anyone with known PTEN mutation or variant of uncertain significance, or Anyone meeting relaxed International Cowden Consortium criteria, or Anyone with Cleveland Clinic (CC) PTEN risk score > 10 or meeting separate pediatric testing criteria Study website:
29 Not to be confused with U54 Longitudinal Study 24-month, longitudinal study Macro-ASD No PTEN (n=40) PTEN No-ASD (n=20) PTEN- ASD (n=40)
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31 Aim1: Cross-sectional (snapshot) and longitudinal (follow through over time) differences Cross-Sectional Neurobehavioral cognitive behavioral adaptive functioning Longitudinal Neurobehavioral 3 years annual = cognitive 6-months = symptoms Medical cancer prevalence
32 Aim 2: Identify biomarkers specific to PTEN ASD Cognitive Markers reduced working memory reduced processing speed Imaging Markers white matter volume and hypo-intensities white matter integrity (DTI) Blood Markers ( peripheral markers of brain )
33 Open: Pilot Randomized Controlled Trial of Everolimus in Individuals with ASD and PTEN Mutations Oral derivative of rapamycin in clinical development since 1986 Approved for several indications: Renal cell carcinoma (2009) Pancreatic neuroendocrine tumors (2011) Hormone receptor-positive HER2-negative breast cancer (2012) Immunosuppressant: transplantation (kidney 2010; liver 2013) Subependymal giant cell astrocytoma (SEGA) in TSC (2010) mtor pathway abnormally upregulated affecting cell growth, proliferation, and function mtor inhibitors reverse some deficits in Pten mouse models Selectively inhibits mtor pathway: Blocks the abnormal upregulation of mtor that occurs as a result of PTEN loss
34 OPEN: Pilot RCT of Everolimus in Children and Adolescents with ASD and PTEN Mutations Participants Flow Randomization (n=40) Everolimus (n=20) 6-month Double Blind Phase Placebo (n=20) Exit Study 6-month Open Label Phase Developmental Synaptopathies Consortium Multi-site trial: Stanford University: 10 Cleveland Clinic: 20 Boston Children s Hospital: 10
35 Alumni Eng Lab PTEN/Cowden Team Debbie J. Marsh, PhD X. P. Zhou, MD, PhD Min-Han Tan, MB, PhD Joanne Ngeow, MB, MPH Kristi L. Bennett, PhD Jason He, MB, PhD Emily Nizialek, PhD Kevin Zbuk, MD Genetic Counselor Coordinator Shreya Malhotra, MS, CGC, LGC Research Coordinators Jen Mears (Alum) -> Holly Green (4/24) Beth Crouser Current Ritika Jaini, PhD Ata Abbas, PhD Hyunpil Lee, PhD Ying Ni, PhD Madhav Sankhunny, PhD Iris N. Smith, PhD Lamis Yehia, MS Nick Sarn Stetson Thacker Tammy Sadler, MS Todd Romigh, MS Jin-Lian Chen, MS Qi Yu, MS Rose Kung, MS
36 s Center for Personalized Genetic Healthcare Genomic Medicine Doctors Adnan Al-Sadah, MD *Charis Eng, MD, PhD Angelika Erwin, MD, PhD Marvin Natowicz, MD, PhD *Marc Shapiro, MD Vickie Zurcher, MD *Kevin Zbuk, MD, Fellow (05-07) *Holly Pederson, MD, Fellow (08-10) *Min-Han Tan, MB, PhD, Fellow (10-11) *Joanne Ngeow, MB, Fellow (10-14) *Pauline Funchain, MD, Fellow (11-15 ) Genomic Medicine Biorepository Phyllis Harbor Junying Lei Brian McCue *Cancer Genetics Focus Genetic Counselors Diane Clements, MS, LGC *Brandie Heald Leach, MS, LGC *Shreya Malhotra, MS, LGC *Jessi Marquard, MS, LGC *Rebekah Moore, MS, LGC *Ryan Noss, MS, LGC Lauren Palange, MS Brittney Psensky, MS, LGC Christina Rigelsky, MS, LGC Allison Schreiber, MS, LGC Amy Shealy, MS, LGC Marissa Coleridge, MS, LGC
37 Cleveland Clinic Cowden Syndrome and PHTS Multidisciplinary Team Derm Tamburo Ifan Clin Psych Busch Frazier Speer Breast Specialist Pederson Grobmyer GU Campbell Genetics Eng Malhotra Thyroid Shin, Jin, Krishnamurthy Gyn Onc Mitchener GI Burke Radakrishnan Neurosurgery Neurology Stephens Friedman
38 International Cowden Consortium Protocol HQ Accrual Centers
39 Funding Gratefully Acknowledged Sondra J. and Stephen R. Hardis Chair of Cancer Genomic Medicine Hardis Fund for Thyroid Cancer Genomics American Cancer Society Clinical Research Professorship American Cancer Society ( ) Cleveland Clinic-Hebrew University Center for Transformative Nanomedicine Doris Duke Distinguished Clinical Scientist Award ( ) National Cancer Institute (R01, R01, P01) National Institutes of Health (R01, S10, U54) Breast Cancer Research Foundation Department of Defense US Army Breast Cancer Research Program ( ) William Randolph Hearst Foundations ( ) Susan G. Komen Breast Cancer Research Foundation Lee Foundation Singapore ( ) NMRC Clinical Research Fellowship (Singapore) [ ] The Ambrose Monell Foundation Zacconi Program of PTEN Research Excellence Generous Donations from Baker, Geller, Latham, Miller, Scherer & Vail Families
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41 Eng Lab 2016 Still PTEN
42 Eng Lab 2017: PTEN n More
43 Thank YOU for Participating in Our PTEN Research Thank YOU for Ensuring Knowledge is Power
PTEN Hamartoma-Tumour Syndrome Prof. Charis Eng
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