Neurofibromatosis Type 1: Diagnosis, Prevalence and Quality of Life

$82.00

Richard G. Morgan (Editor)

Series: Dermatology – Laboratory and Clinical Research

BISAC: MED017000

This monograph includes five chapters about neurofibromatosis type 1 (NF1), a condition characterized by changes in skin coloring and the growth of tumors along nerves in the skin, brain, and other parts of the body. Chapter One concerns the evolving molecular biology, targeted therapeutics, and neurocognitive deficits in neurofibromatosis type one. Chapter Two focuses on gastrointestinal stromal tumors and reviews the clinicopathologic features of these tumors and discusses differential diagnostic considerations. Chapter Three explores juvenile myelomonocytic leukemia, a rare hematological malignancy of the pediatric population, and its association with NF1 and distinguishing features in this context. Chapter Four reviews molecular approaches for the diagnosis of NF1, from single-gene testing to next-generation sequencing of gene panels, with a focus on the issues of sensitivity and variant interpretations. Finally, Chapter Five focuses attention on focal cortical dysplasia that has been identified in the population of NF1 patients that have had coexistent hippocampal sclerosis.

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Description

Preface

Chapter 1. Evolving Molecular Biology, Targeted Therapeutics and Neurocognitive Deficits in Neurofibromatosis 1
(Sumit Gupta, MD, Department of Pediatrics, MD Anderson Cancer Center, Houston, Texas, US; Ruby Siada, BS, Mayo Clinic Alix School of Medicine, Rochester, Minnesota, US; Jonathan D. Schwartz, DO, MPH, Department of Pediatric Hematology/Oncology, Mayo Clinic, Rochester, Minnesota, US; David J. Daniels, MD, PhD, Department of Neurosurgery, Mayo Clinic, Rochester, Minnesota, US; Peter L. Stavinoha, PhD, ABBP, Department of Pediatrics, MD Anderson Cancer Center, Houston, Texas, US and Soumen Khatua, MD, Department of Pediatric Hematology/Oncology, Mayo Clinic, Rochester, Minnesota, US)

Chapter 2. Gastrointestinal Stromal Tumors Associated with Neurofibromatosis Type 1
(Adil Menon, MD, MS Department of Pathology,Northwestern University,
Evanston, Illinois, USA and Richard A. Prayson, MD, Med Case Western Reserve School of Medicine and the Department of Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio, USA)

Chapter 3. Juvenile Myelomonocytic Leukemia in the Context of Neurofibromatosis Type 1
(Derek M. Loneman, Howard J. Meyerson and Richard A. Prayson – Department of Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio, US, et al.)

Chapter 4. Emerging Molecular Approaches to the Early Diagnosis of Neurofibromatosis Type 1
(Stevephen Hung and Richard A. Prayson – Case Western Reserve University School of Medicine and Department of Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio, US)

Chapter 5. Focal Cortical Dysplasia in Neurofibromatosis Type 1
(Richard A. Prayson – Cleveland Clinic, Department of Anatomic Pathology, Cleveland Clinic, Cleveland, OH, US)

Index

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