© 2020

Genomic Medicine

A Practical Guide

  • Laura J. Tafe
  • Maria E. Arcila

Table of contents

  1. Front Matter
    Pages i-x
  2. General Concepts

    1. Front Matter
      Pages 1-1
    2. Alejandro Luiña Contreras, Jose Jasper L. Andal, Raymundo M. Lo, Daphne C. Ang
      Pages 3-23
    3. Alanna J. Church
      Pages 25-40
    4. Brennan Decker, Lynette M. Sholl
      Pages 41-54
    5. Chad Vanderbilt, Sumit Middha
      Pages 55-68
    6. Alejandro Luiña Contreras
      Pages 69-80
  3. Applications in Solid Tumors

    1. Front Matter
      Pages 81-81
    2. Maria E. Arcila, Jason C. Chang, Laura J. Tafe
      Pages 83-101
    3. Efsevia Vakiani
      Pages 103-122
    4. Dara S. Ross
      Pages 123-131
    5. Marie-Lisa Eich, George J. Netto
      Pages 133-147
    6. Jessica L. Dillon, Laura J. Tafe
      Pages 149-158
    7. Konstantinos Linos
      Pages 159-182
    8. Snjezana Dogan
      Pages 183-195
    9. Snjezana Dogan
      Pages 197-203
  4. Applications in Hematopathology

    1. Front Matter
      Pages 205-205
    2. Eric Y. Loo
      Pages 207-233
    3. Maria E. Arcila, Caleb Ho
      Pages 235-251
    4. Vignesh Shanmugam, Annette S. Kim
      Pages 253-315

About this book


The field of Molecular Diagnostics is rapidly evolving and molecular characterization of neoplasms is becoming an increasingly important part of the pathologic work up and diagnosis of many tumor types. This work provides a high-yield reference book that compiles critical information related to molecular biomarkers for various solid tumor and hematologic malignancy subtypes. It is succinct yet comprehensive enough to be suitable for fellows in training and medical professionals with an interest in molecular pathology and biomarkers. The book covers many aspects of molecular diagnostics, from techniques to applications and comprehensive summaries of the current molecular biomarkers of critical importance in solid and liquid tumors. Attention is also specifi cally devoted to bioinformatics and next generation sequencing, as well as pre-analytical issues that must be considered for accurate interpretation of molecular results in the context of overall patient care.

This text focuses on clinical utility and validity and serves as an “owner’s manual” in Genomic Diagnostics for the practicing pathologist, pathology fellows and residents and other health care providers. Physicians will find this book invaluable as a quick reference for current molecular testing modalities and guidelines, tumor board preparation, deciding which test to order and interpreting genomic laboratory results. In addition, it is an accessible for trainees as a board review preparation reference.


hematopoietic disorders Pharmacogenomics Immunotherapy drug targets epigenetics FISH

Editors and affiliations

  • Laura J. Tafe
    • 1
  • Maria E. Arcila
    • 2
  1. 1.Dartmouth–Hitchcock Medical CenterLebanonUSA
  2. 2.Memorial Sloan Kettering Cancer CenterNew YorkUSA

About the editors

Laura J. Tafe, MD
Associate Professor of Pathology and Laboratory Medicine
Department of Pathology and Laboratory Medicine
Dartmouth-Hitchcock Medical Center
One Medical Center Drive
Lebanon, NH 03756

Maria E. Arcila, MD
Associate attending 
Department of Pathology – Hematopathology and Molecular Diagnostics Services 
Memorial Sloan Kettering Cancer Center 
1275 York Ave
New York, NY 10065
212 6397879

Bibliographic information

  • Book Title Genomic Medicine
  • Book Subtitle A Practical Guide
  • Editors Laura J. Tafe
    Maria E. Arcila
  • DOI
  • Copyright Information Springer Nature Switzerland AG 2020
  • Publisher Name Springer, Cham
  • eBook Packages Medicine Medicine (R0)
  • Hardcover ISBN 978-3-030-22921-4
  • eBook ISBN 978-3-030-22922-1
  • Edition Number 1
  • Number of Pages X, 325
  • Number of Illustrations 1 b/w illustrations, 20 illustrations in colour
  • Topics Pathology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals