Section I. Molecular Pathology of Pediatric Neoplasms: General Principles
1. Principles of Molecular Biology
1.1. Nucleic acid structure, composition and organization
1.2. Gene structure, organization, expression
1.3. Chromosome structure
1.4. Circulating nucleic acid
1.5. Mitochondrial DNA
2. Molecular Oncogenesis
2.1.
Oncogenes
2.2. Tumor suppressor genes
2.3. Genomic alterations
2.4. Oncogenic viruses
2.5. Genomic landscape of pediatric neoplasms
3. Molecular Testing in Oncology
3.1. Indications
3.2. Considerations for selection of a molecular test
3.3. Ethical considerations
3.4. Specimen requirements
3.5. Specimen collection and processing
3.6. Interpretation of molecular testing results
4. Molecular Methods in Oncology: Targeted Mutational Analysis
4.1. PCR-based techniques
4.2. FISH
5. Molecular Methods in Oncology: Genomic Analysis
5.1. Next-generation sequencing
5.2. Chromosomal microarray
6. Molecular Targeted Therapy of Pediatric Neoplasms
Section II. Molecular Pathology of Specific Pediatric Neoplasms
7. Hematolymphoid System
7.1. Childhood leukemias
7.2. Childhood myelodysplastic syndrome
7.3. Childhood lymphomas
8. Nervous System
8.1. Gliomas
8.1.1. Low-grade gliomas
8.1.2. High-grade gliomas
8.1.3. Diffuse intrinsic pontine glioma
8.2. Astrocytomas
8.2.1. Low-grade astrocytomas
8.2.2. High-grade astrocytoma
8.2.3. Pleomorphic xanthoastrocytoma
8.3. Atypical teratoid rhabdoid tumors
8.4. Ependymoma
8.5. Subependymal giant cell tumor
8.6. Medulloblastoma
8.7. Craniopharyngioma
8.8. Choroid plexus tumors
8.9. Retinoblastoma
9. Neuroblastoma and neuroblastic tumors
10. Skin, Soft Tissue and Bone
10.1. Melanocytic neoplasms
10.2. Langerhans cell histiocytosis
10.3. Nodular fasciitis
10.4. Fibromatosis
10.
5. Rhadomyosarcoma
10.6. Desmoplastic small round cell tumor
10.7. Ewing sarcoma family
10.8. Synovial sarcoma
10.9. Malignant peripheral nerve sheath tumor
10.10. Vascular neoplasms
10.11. Giant cell tumor
10.12. Aneurysmal bone cyst
10.13. Fibrous dysplasia/McCune-Albright syndrome
10.14. Oste
oblastoma
10.15. Osteosarcoma
10.16. Rare pediatric soft tissue neoplasms
11. Head and Neck
11.1. Salivary gland neoplasms
11.2. Thyroid and parathyroid neoplasms
12. Cardiovascular and Respiratory System
12.1. Pleuropulmonary blastoma
12.2. Inflammatory myofibroblastic tumor
12.3. Histiocytoid cardiomyopathy
13. Gastrointestinal Tract
13.1. Gastrointestinal stromal tumor
13.2. Juvenile polyposis syndrome
13.3. Familial adenomatous polyposis
13.4. Peutz-Jeghers syndrome
13.5. Cronkhite-Canada syndrome
13.6. PTEN hamartoma tumor syndromes
13.7. Cowden syndrome
13.8. Bannayan-Riley-Ruvalcaba syndrome
14. Liver and Pancreas
14.1. Hepatoblastoma
14.2. Hepatocellular carcinoma
14.3. Pancreatoblastoma
15. Genitourinary
15.1. Wilms tumor
15.2. MITF/TFE family translocation-associated carcinoma
Larissa V. Furtado, MD
Medical Director, Molecular Oncology
ARUP Laboratories
Assistant Professor of Pathology
University of Utah School of Medicine
500 Chipeta Way
MS J15-113
Salt Lake City, Utah, 84108
Aliya N. Husain, MD
Professor of Pathology
University of Chicago Medicine
5841 S. Maryland Ave., Room S-627, MC 6101
Chicago, IL 60637
This book provides a comprehensive, state-of-the art review of pediatric oncology. The text covers relevant concepts in molecular biology and addresses technical principles, applications, challenges, and integration of current and emerging genomic and molecular methods in the diagnosis and personalized management of childhood cancers. The text also discusses a wide array of pediatric neoplasms in the context of molecular pathology in a concise and understandable manner, with focus on their molecular pathogenesis, clinicopathological features, classification, molecular diagnosis, and approaches to personalized care.
Written by experts in the field, Precision Molecular Pathology of Neoplastic Pediatric Diseases serves as a valuable resource for pathologists, pediatric oncologists, trainees and researchers with an interest in pediatric and molecular pathology.