Molecular Pathology in Clinical Practice

by Leonard, Debra G. B., M.D.; Bagg, Adam, M.D.; Caliendo, Angela M., M.D., Ph.D.; Kaul, Karen L., M.D., Ph.D.

• ISBN13: 9780387332260
• ISBN10: 038733226X
• Edition: 1st
• Format: Hardcover
• Copyright: 2006-12-15
• Publisher: Springer Verlag

Summary

Molecular Pathology In Clinical Medicine is an authoritative, comprehensive textbook that provides the general pathologist in clinical practice, as well as residents and fellows during their training, with the current standard in molecular testing. The text is divided into 8 sections, as defined by the molecular pathology specialty board: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. The book integrates the latest advancements in the field with the basic principles and practical applications. Each chapter discusses the clinical significance of each diagnostic test, available assays, quality control and lab issues, interpretation, and reasons for testing. Chapters cover such topics as HIV, herpes, hepatitis, deafness, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. 189 illustrations, 45 of them in full-color, illustrate the principles outlined in the text. This textbook is a classic in the making and a must-have reference to meet the needs of every pathologist, resident and fellow.

Table of Contents

Basics of molecular biology	p. 1
Molecular pathology methods	p. 15
Genetics
Genetic counseling	p. 43
Pedigree analysis and risk assessment	p. 49
Bayesian analysis	p. 61
Developmental disabilities	p. 73
Neuromuscular diseases	p. 87
Molecular genetic testing for metabolic disorders	p. 97
Fibroblast growth factor receptor-related skeletal disorders	p. 109
Cystic fibrosis	p. 117
Deafness	p. 125
Coagulation disorders	p. 135
Hematologic disorders : hemochromatosis, hemoglobinopathies, and Rh incompatibility	p. 151
Cardiovascular disease	p. 161
Neurodegenerative disorders	p. 179
Skin and connective tissue disorders	p. 191
Inherited cancers
Inherited breast cancer	p. 207
Familial adenomatous polyposis and Turcot and Peutz-Jeghers syndromes	p. 215
Hereditary nonpolyposis colorectal cancer	p. 223
Multiple endocrine neoplasia syndromes	p. 233
The neurofibromatoses	p. 243
TP53 mutation and Li-Fraumeni syndrome	p. 251
von Hippel-Lindau disease	p. 263
Solid tumors
Breast cancer	p. 269
Urothelial carcinoma	p. 279
Sarcomas	p. 287
Gliomas	p. 299
Molecular detection of occult tumor cells	p. 305
Microarray studies (beyond histology)	p. 313
Neoplastic hematopathology
Acute myeloid leukemia	p. 321
Acute lymphoblastic leukemia	p. 337
B-cell lymphomas	p. 349
T-cell lymphomas	p. 365
Lymphoproliferations of immunodeficiency	p. 373
Myeloproliferative disorders and myelodysplastic syndromes	p. 383
Infectious diseases
Human immunodeficiency virus type 1	p. 399
Hepatitis B and C viruses	p. 411
Viral infections in transplant patients	p. 425
Viral infections of the central nervous system	p. 437
Sexually transmitted diseases	p. 447
Respiratory pathogens	p. 459
Bacterial pathogens	p. 471
Mycobacterial infections	p. 481
Identity testing
Forensic DNA typing	p. 491
Parentage and relationship testing	p. 507
Assessment of chimerism in the setting of allogeneic hematopoietic cell transplantation	p. 517
Specimen identification through DNA analysis	p. 533
HLA typing
Molecular HLA typing	p. 541
Laboratory management issues
Molecular pathology laboratory management	p. 553
From research to clinical practice	p. 577
Table of Contents provided by Blackwell. All Rights Reserved.