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Molecular Diagnostic Pathology

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Essentials of Anatomic Pathology

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Abstract

A variety of recurrent genetic abnormalities have been well documented in many, if not most, human diseases. Genetic abnormalities specifically associated with these diagnoses are very useful biomarkers for pathology classification and risk stratification. Molecularly targeted therapies have been successfully developed based on disease-specific genetic abnormalities in several cancers and infectious diseases. Practicing anatomic pathologists now must know the fundamentals of molecular pathology so that they can rationally and cost effectively utilize molecular methods to fine-tune pathology diagnoses and guide personalized patient care. In this chapter, we will review the principles of molecular methods in anatomic pathology, and the practical application of these methods in anatomic pathology.

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  • Arber DA. Molecular diagnostic approach to non-Hodgkin’s lymphoma. J Mol Diagn 2000;2:178–190.

    Article  PubMed  CAS  Google Scholar 

  • Bagg A. Clinical applications of molecular genetic testing in hematologic malignancies: advantages and limitations. Hum Pathol 2003;34:352–358.

    Article  PubMed  CAS  Google Scholar 

  • Bäsecke J, Griesinger F, Trümper L, et al. Leukemia- and lymphoma-associated genetic aberrations in healthy individuals. Ann Hematol 2002; 81:64–75.

    Article  PubMed  Google Scholar 

  • Bench AJ, Erber WN, Follows GA, et al. Molecular genetic analysis of haematological malignancies II: Mature lymphoid neoplasms. Int J Lab Hematol 2007;29:229–260.

    Article  PubMed  CAS  Google Scholar 

  • Bejjani BA, Shaffer LG. Clinical utility of contemporary molecular ­cytogenetics. Annu Rev Genomics Hum Genet 2008;9:71–86.

    Article  PubMed  CAS  Google Scholar 

  • Bernard PS, Wittwer CT. Real-time PCR technology for cancer diagnostics. Clin Chem 2002;48:1178–1185.

    PubMed  CAS  Google Scholar 

  • Cherian S, Bagg A. The genetics of the myelodysplastic syndromes: classical cytogenetics and recent molecular insights. Hematology 2006;11:1–13.

    Article  PubMed  CAS  Google Scholar 

  • Crespo M, Bosch F, Villamor N, et al. ZAP-70 expression as a surrogate for immunoglobulin-variable-region mutations in chronic lymphocytic leukemia. N Engl J Med 2003;348:1764–1775.

    Article  PubMed  CAS  Google Scholar 

  • Espinet B, Bellosillo B, Melero C, et al. FISH is better than BIOMED-2 PCR to detect IgH/BCL2 translocation in follicular lymphoma at diagnosis using paraffin-embedded tissue sections. Leuk Res2008;32:737–742.

    Article  PubMed  CAS  Google Scholar 

  • Gabert J, Beillard E, van der Velden VH, et al. Standardization and ­quality control studies of ‘real-time’ quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia – a Europe against cancer program. Leukemia 2003;17:2318–2357.

    Article  PubMed  CAS  Google Scholar 

  • Gulley ML, Shea TC, Fedoriw Y. Genetic tests to evaluate prognosis and predict therapeutic response in acute myeloid leukemia. J Mol Diagn 2010;12:3–16.

    Google Scholar 

  • Hartmann EM, Ott G, Rosenwald A. Molecular biology and genetics of lymphomas. Hematol Oncol Clin North Am 2008;22:807–823.

    Article  PubMed  Google Scholar 

  • Jennings L, Van Deerlin VM, Gulley ML. College of American Pathologists Molecular Pathology Resource Committee. Recommended principles and practices for validating clinical molecular pathology tests. Arch Pathol Lab Med 2009;133:743–755.

    Google Scholar 

  • Jevremovic D, Viswanatha DS. Molecular diagnosis of hematopoietic and lymphoid neoplasms. Hematol Oncol Clin North Am 2009;23:903–933.

    Google Scholar 

  • Jones D, Kamel-Reid S, Bahler D, et al. Laboratory practice guidelines for detecting and reporting BCR-ABL drug resistance mutations in chronic myelogenous leukemia and acute lymphoblastic leukemia: a report of the Association for Molecular Pathology. J Mol Diagn 2009;11:4–11.

    Article  PubMed  CAS  Google Scholar 

  • Liehr T, Starke H, Weise A, et al. Multicolor FISH probe sets and their applications. Histol Histopathol 2004;19:229–237.

    PubMed  CAS  Google Scholar 

  • Liu H, Bench AJ, Bacon CM et al. Practical strategy for the routine use of BIOMED-2 PCR assays for detection of B- and T-cell clonality in ­diagnostic haematopathology. Br J Haematol 2007;138:31–43.

    Article  PubMed  CAS  Google Scholar 

  • Osaki M, Takeshita F, Ochiya T. MicroRNAs as biomarkers and therapeutic drugs in human cancer. Biomarkers 2008;13:658–670.

    Article  PubMed  CAS  Google Scholar 

  • Ou J, Vergilio JA, Bagg A. Molecular diagnosis and monitoring in the clinical management of patients with chronic myelogenous leukemia treated with tyrosine kinase inhibitors. Am J Hematol 2008;83:296–302.

    Article  PubMed  CAS  Google Scholar 

  • Schiffer CA. Molecular characterization of AML: a significant advance or just another prognostic factor? Best Pract Res Clin Haematol 2008;21:621–628.

    Article  PubMed  CAS  Google Scholar 

  • Schlenk RF, Döhner K, Krauter J, et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med 2008;358:1909–1918.

    Article  PubMed  CAS  Google Scholar 

  • Sreekantaiah C. FISH panels for hematologic malignancies. Cytogenet Genome Res 2007;118:284–296.

    Article  PubMed  CAS  Google Scholar 

  • Staudt LM. Molecular diagnosis of the hematologic cancers. N Engl J Med 2003;348:1777–1785.

    Article  PubMed  CAS  Google Scholar 

  • Swerdlow SH, Campo E, Harris NL. et al. (eds). World Health Organization Classification of Tumours of Hematopoietic and Lymphoid Tissues. 4th edn. IARC Press: Lyon, 2008

    Google Scholar 

  • Tefferi A. JAK and MPL mutations in myeloid malignancies. Leuk Lymphoma 2008;49:388–397.

    Article  PubMed  CAS  Google Scholar 

  • Tefferi A. Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDFRB and FGFR. J Cell Mol Med 2009;13:215–237

    Article  PubMed  CAS  Google Scholar 

  • Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and ­point-of-care diagnostic algorithms. Leukemia 2008;22:14–22.

    Article  PubMed  CAS  Google Scholar 

  • van Krieken JH, Langerak AW, Macintyre EA et al. Improved reliability of lymphoma diagnostics via PCR-based clonality testing:report of the BIOMED-2 Concerted Action BHM4-CT98-3936. Leukemia 2007;21:201–206.

    Article  PubMed  Google Scholar 

  • Vladareanu AM, Müller-Tidow C, Bumbea H, Radesi S. Molecular markers guide diagnosis and treatment in Philadelphia chromosome-negative myeloproliferative disorders (Review). Oncol Rep 2010;23:595–604.

    Article  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Clinical Pathology, William Beaumont Hospital, William Beaumont School of Medicine, Royal Oak, MI, USA

    James Huang MD

  2. Oregon Health & Science University, Portland, OR, USA

    Richard D. Press MD, PhD

Authors
  1. James Huang MD
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  2. Richard D. Press MD, PhD
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Editor information

Editors and Affiliations

  1. School of Medicine, Dept. Pathology, Indiana University, N. University Blvd. 550, Indianapolis, 46202, Indiana, USA

    Liang Cheng

  2. Bostwick Laboratories, N. Parham Rd. 2807, Richmond, 23294, Virgin Islands, USA

    David G. Bostwick

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© 2011 Springer Science+Business Media, LLC

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Huang, J., Press, R.D. (2011). Molecular Diagnostic Pathology. In: Cheng, L., Bostwick, D. (eds) Essentials of Anatomic Pathology. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-6043-6_11

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  • DOI: https://doi.org/10.1007/978-1-4419-6043-6_11

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4419-6042-9

  • Online ISBN: 978-1-4419-6043-6

  • eBook Packages: MedicineMedicine (R0)

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