Titolo: Genomic Applications in Pathology

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Anatomia Patologica

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Genomic Applications in Pathology

Editore

Springer

Anno

2019

Pagine

821

ISBN

9783319968292

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The recent advances in genomics are continuing to reshape our approach to diagnostics, prognostics and therapeutics in oncologic and other disorders. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant technologic and cost changes, genomic approaches are becoming the primary methods in many laboratories and for many diseases.

As a result, a plethora of clinical genomic applications have been implemented in diagnostic pathology laboratories, and the applications and demands continue to evolve rapidly. This has created a tremendous need for a comprehensive resource on genomic applications in clinical and anatomic pathology. We believe that our current textbook provides such a resource to practicing molecular pathologists, hematopathologists and other subspecialized pathologists, general pathologists, pathology and other trainees, oncologists, geneticists and a growing spectrum of other clinicians. With periodic updates and a sufficiently rapid time from submission to publication, this textbook will be the resource of choice for many professionals and teaching programs. Its focus on genomics parallels the evolution of these technologies as primary methods in the clinical lab. The rapid evolution of genomics and its applications in medicine necessitates the (frequent) updating of this publication.

This text will provide a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays will be discussed together with issues related to reporting and the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms will be detailed. Genomic applications in pharmacogenomics, inherited genetic diseases and infectious diseases will also be discussed. The latest iteration of practice recommendations or guidelines in genomic testing put forth by stakeholder professional organizations such as the College of American Pathology and the Association for Molecular Pathology, will be discussed as well as regulatory issues and laboratory accreditation related to genomic testing. All chapters will be written by experts in their fields and will include the most up to date scientific and clinical information.

Practicing Pathology in the Post-genomic Era: Challenges and Opportunities

Kaul, Karen L.

Pages 3-11
Current Massively Parallel Sequencing Technologies: Platforms and Reporting Considerations

Bosch, John R. ten (et al.)

Pages 13-27
Emerging Next-Generation Sequencing Technologies

Anderson, Matthew W.

Pages 29-39
Transcriptome Sequencing (RNA-Seq)

Reuther, Jacquelyn (et al.)

Pages 41-63
miRNA Expression Assays

Braicu, Cornelia (et al.)

Pages 65-92

Circulating Tumor Cells: Enrichment and Genomic Applications

El-Ashry, Dorraya (et al.)

Pages 93-110
Circulating Cell-Free DNA for Molecular Diagnostics and Therapeutic Monitoring

Hunter, Natasha B. (et al.)

Pages 111-125
Genomic Pathology: Training for New Technology

Haspel, Richard L.

Pages 129-140
Clinical Implementation of Next-Generation Sequencing (NGS) Assays

Deignan, Joshua L.

Pages 141-148
Regulatory and Reimbursement Issues Related to Genomic Testing Services

Nowak, Jan A. (et al.)

Pages 149-158
Patents and Proprietary Assays

Klein, Roger D.

Pages 159-169
Ethical Issues in Clinical Genetics and Genomics

Greely, Henry T.

Pages 171-186
Transitioning Discoveries from Cancer Genomics Research Laboratories into Pathology Practice

Jamaspishvili, Tamara (et al.)

Pages 189-207
Bioinformatics Tools in Clinical Genomics

Crockett, David K. (et al.)

Pages 209-234
Next-Generation Sequencing for Single-Gene Analysis

Ho, Hao (et al.)

Pages 235-244
Next-Generation Sequencing for Gene Panels

Dorschner, Michael O.

Pages 245-259
Implementation of Exome Sequencing Assay

Chakravorty, Samya (et al.)

Pages 261-281
Implementation of Genome Sequencing Assays

Hambuch, Tina M. (et al.)

Pages 283-306
Clinical Information Systems in the Era of Personalized Medicine

Nowak, Jonathan (et al.)

Pages 307-325
Reporting Clinical Genomic Assay Results and the Role of the Pathologist

Longtine, Janina A.

Pages 327-342
Genomic Applications in Hematologic Oncology

Fisher, Kevin E. (et al.)

Pages 345-367
Genomic Applications in Brain Tumors

Snuderl, Matija

Pages 369-393
Genomic Applications in Head and Neck Cancers

Bellairs, Joseph A. (et al.)

Pages 395-414
Genomic Applications in Thyroid Cancer

Giordano, Thomas J.

Pages 415-426
Genomic Applications in Salivary Gland Tumors

Stevens, Todd M. (et al.)

Pages 427-441

Genomic Applications in Breast Carcinoma

Pareja, Fresia (et al.)

Pages 443-461
Genomic Applications in Pulmonary Malignancies

Büttner, Reinhard (et al.)

Pages 463-502
Genomic Applications in Colorectal Carcinomas

Ritterhouse, Lauren L. (et al.)

Pages 503-511
Genomic Applications in Pancreatic and Gastric Tumors

Carneiro, Fátima (et al.)

Pages 513-535
Molecular Pathology of Genitourinary Cancers: Translating the Cancer Genome to the Clinic

Magers, Martin J. (et al.)

Pages 537-567
Genomic Applications in Gynecologic Malignancies

Chiang, Sarah (et al.)

Pages 569-602
Genomic Applications in Ovarian Cancer

Köbel, Martin (et al.)

Pages 603-618
Genomic Applications in Soft Tissue Sarcomas

Wardelmann, Eva (et al.)

Pages 619-651
Genomic Applications in Melanoma

Prieto-Granada, Carlos N. (et al.)

Pages 653-693
Genomic Applications in Inherited Genetic Disorders

Krock, Bryan L. (et al.)

Pages 697-720
Sequencing Cell-Free DNA in the Maternal Circulation to Screen for Down Syndrome, Other Common Trisomies, and Selected Genetic Disorders

Palomaki, Glenn E. (et al.)

Pages 721-749
Genomic Applications in the Clinical Management of Infectious Diseases

Lefterova, Martina I. (et al.)

Pages 751-766
Pharmacogenomics: Success and Challenges

Hussaini, Mohammad Omar (et al.)

Pages 767-782
The Human Microbiome in Health and Disease

Arnold, Wyatt M. (et al.)

Pages 783-798