Central Nervous System Pathologies in Hereditary Tumor Syndromes

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Richard A. Prayson, MD, MEd – Section Head, Neuropathology, Cleveland Clinic, Ohio  USA

Series: Pathology and Laboratory Medicine
BISAC: MED107000; MED056000; MED067000
DOI: https://doi.org/10.52305/HDHV6059

The central nervous system can be affected in many hereditary tumor syndromes, also sometimes referred to as familiar tumor syndromes, genetic tumor syndromes or cancer predisposition syndromes. Although a few of these have been recognized for a long period of time and have been well delineated with regard to clinical presentations and genetic abnormalities, some have been only recently defined. These disorders are highly complex and patients are best cared for in specialized centers which have broad interdisciplinary expertise to handle the wide array of phenotypic manifestations of these disorders. This book contains a collection of chapters which focus on a subset of these syndromes. The focal of the chapters in this text is on the neuropathologic features associated with the various syndromes that are highlighted.

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Table of Contents

Preface

Chapter 1. Neurofibromatosis Type 2: Central Nervous System Pathology
Darren Liu, BS, BA1 and Richard A. Prayson2, MD, Med
1Cleveland Clinic Lerner College of Medicine
2Cleveland Clinic Department of Anatomic Pathology

Chapter 2. Tuberous Sclerosis: Central Nervous System Pathology
Alissa Becerril1, BA and Richard A. Prayson2, MD, Med
1Cleveland Clinic Lerner College of Medicine, OH, USA
2Cleveland Clinic Department of Anatomic Pathology, Cleveland Clinic, OH, USA

Chapter 3. Neuropathologic Features of von Hippel-Lindau Syndrome
Richard A. Prayson, MD, MEd and Elizabeth E. O’Toole2, MD
Cleveland Clinic1 and MetroHealth Medical Center2, Cleveland, OH, USA

Chapter 4. Sturge-Weber Syndrome: Central Nervous System Pathology
Richard A. Prayson, MD, Med
Cleveland Clinic, Department of Anatomic Pathology, Cleveland, Ohio, USA

Chapter 5. Neuropathologic Features of Cowden Disease
Richard A. Prayson and Brigid E. Prayson
Cleveland Clinic, Cleveland, Ohio and Allegheny Health Network, Pittsburgh, PA

Chapter 6. Schwannomatosis: Central Nervous System Pathology
Aiman J. Faruqi1, BS, Mario S. Belfiglio1, BS, and Richard A. Prayson2, MD
1Cleveland Clinic Lerner College of Medicine, Cleveland Clinic, Cleveland, Ohio, USA
2Cleveland Clinic, Department of Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio, USA

Chapter 7. Clinical and Pathological Aspects of Li-Fraumeni Syndrome – Focus on the Central Nervous System
Georgi Galev, MD and Richard A. Prayson, MD, Med
Cleveland Clinic Department of Anatomic Pathology, Cleveland, Ohio, USA

Chapter 8. Carney Complex: Nervous System Pathology
Maleeha F. Ahmad1 and Richard A. Prayson2 , MD
1Cleveland Clinic Lerner, College of Medicine
2Cleveland Clinic, Department of Anatomic Pathology, OH, USA

Chapter 9. Lynch Syndrome: Central Nervous System Pathology
Surabhi Tewari1 and Richard A. Prayson2
1Cleveland Clinic Lerner College of Medicine
2Department of Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio

Chapter 10. Familial Retinoblastoma: Central Nervous System Pathology
Suzie Kim1, BS, and Richard A. Prayson2, MD Med
1Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio, USA
2Cleveland Clinic, Department of Anatomic Pathology, Cleveland, Ohio, USA

Chapter 11. Fanconi Anemia: A Neuropathologic Perspective
Joshua L Tidd1, Samantha J Stallkamp Tidd2 and Richard A. Prayson3, MD
1Northeast Ohio Medical University, Rootstown, OH, United States of America
2Cleveland Clinic Lerner College of Medicine, Cleveland, OH, United States of America
3Cleveland Clinic Lerner College of Medicine and  Department of Anatomic Pathology, Cleveland Clinic, United States of America

Chapter 12. Clinicopathologic Review of the Familial Paraganglioma Syndromes
Samantha J Stallkamp Tidd1, BS, Joshua L. Tidd2, BS, and Richard A. Prayson3, MD, Med
1Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA
2Northeast Ohio Medical University, Rootstown, OH, USA
3Cleveland Clinic, Department of Anatomic Pathology, Cleveland Clinic, USA

Chapter 13. Familial Melanoma-Astrocytoma Syndrome
Narendra Bhattarai, MD and Richard A. Prayson, MD, Med
Cleveland Clinic Department of Anatomic Pathology, Clevelend, Ohio, USA

Chapter 14. Neuropathologic Findings in Familial Adenomatous Polyposis Syndrome
Hailey L. Gosnell, MD and Richard A. Prayson, MD
Cleveland Clinic, Department of Anatomic Pathology, Cleveland, Ohio, USA

Chapter 15. BAP1 Tumor Predisposition Syndrome: Central Nervous System Pathology
Maeve Pascoe1, BS and Richard A. Prayson2, MD, Med
1Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio, USA
2Cleveland Clinic Department of Anatomic Pathology, Cleveland, Ohio, USA

Chapter 16. ELP1-Medulloblastoma Syndrome
Mario-Cyriac Tcheukado1, BS, Derrick Obiri-Yeboah1, BS and Richard A. Prayson2,1, MD, Med
1Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio, USA
2Cleveland Clinic, Department of Anatomic Pathology Cleveland, Ohio, USA

Chapter 17. Nevoid Basal Cell Carcinoma Syndrome: Neuropathologic Features
Derrick Obiri-Yeboah1, BS, Mario-Cyriac Tcheukado1, BS, and Richard A. Prayson2, MD, Med
1Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio, USA
2Cleveland Clinic, Department of Anatomic Pathology Cleveland, Ohio, USA

Chapter 18. Constitutional Mismatch Repair Deficiency Syndrome: Central Nervous System Pathology
Lauren E. Heusinkveld1, BS and Richard A. Prayson2, MD, Med
1Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA
2Department of Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio, USA

Chapter 19. Rhabdoid Tumor Predisposition Syndrome: Pathology of a Heritable Syndrome Primarily Affecting the Central Nervous System
Stephanie Njemanze1, BA, BS and Richard A. Prayson2, MD, Med
1Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio, USA
2Cleveland Clinic Department of Anatomic Pathology, Cleveland, Ohio, USA

Chapter 20. DICER1 Syndrome: A Neuro-Clinicopathologic Review
Kiran A. Vaidya1, BA and Richard A. Prayson2, MD, Med
1Cleveland Clinic, Lerner College of Medicine, Cleveland, Ohio, USA
2Cleveland Clinic, Department of Anatomic Pathology,
Cleveland, Ohio, USA

Chapter 21. Pituitary Gland and Systemic Pathology of Multiple Endocrine Neoplasia Type I (MEN1)
Dhananjay Prakash1, BS, MS, Precious C. Oyem2, BA and Richard A. Prayson3, MD, Med
1Case Western Reserve University
2Cleveland Clinic Lerner College of Medicine,
3Department of Anatomic Pathology Cleveland Clinic, USA

Chapter 22. Noonan Syndrome: Central Nervous System Manifestations
Precious C. Oyem1, BA, Dhananjay Prakash2, BS, MS, and Richard A. Prayson3,1, MD
1Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio, USA
2Case Western Reserve University, Cleveland, Ohio, USA
3Cleveland Clinic Department of Anatomic Pathology, Cleveland, Ohio, USA

Chapter 23. Neuropathologic Findings in L-2-Hydroxyglutaric Aciduria
Christel M. Kinkopf1 and Richard A. Prayson2 , MD
1Ohio Heritage College of Osteopathic Medicine, Warrensville Heights, OH, USA
2Cleveland Clinic, Department of Anatomic Pathology, Cleveland, Ohio, USA

Index

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