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Molecular hematology. Qualitative to quantitative techniques.

Salem H Khalil1

  • 1Department of Pathology and Laboratory Medicine (MBC-10), King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia. khalil@kfshrc.edu.sa

Saudi Medical Journal
|October 18, 2005
PubMed
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Molecular diagnostics, including real-time quantitative-PCR, have advanced significantly. This review details 10 years of experience with over 6,546 samples in molecular hematology, establishing guidelines for diagnosis and monitoring.

Area of Science:

  • Molecular Diagnostics
  • Hematology
  • Oncology

Background:

  • Molecular diagnostics technology has evolved from Southern blot to real-time quantitative-PCR (RT-qPCR).
  • The Section of Hematology at King Faisal Specialist Hospital and Research Center has accumulated extensive experience over 10 years.
  • Over 6,546 samples were analyzed for gene rearrangements, fusion transcripts, and mutations.

Purpose of the Study:

  • To retrospectively review the molecular hematology experience at King Faisal Specialist Hospital and Research Center.
  • To propose recommended guidelines for molecular diagnostic assays in hematologic malignancies.
  • To highlight the role of quantitative assays in monitoring minimal residual disease and treatment response.

Main Methods:

  • Retrospective analysis of molecular diagnostic data.

Related Experiment Videos

  • Utilized polymerase chain reaction (PCR) and real-time quantitative-PCR (RT-qPCR) technologies.
  • Analysis included gene rearrangements (Ig, TCR), fusion genes (BCR/ABL, PML/RARalpha, AML1/ETO, CBFB/MYH11), and gene mutations (BCL-2, BCL-1).

    • Main Results:

    • Successfully analyzed 6,546 samples over 10 years.
    • Identified various gene rearrangements, fusion transcripts, and mutations critical for diagnosing hematologic malignancies.
    • Demonstrated the utility of quantitative assays in confirming complete remission and detecting early relapse.

    Conclusions:

    • Molecular diagnostics, particularly RT-qPCR, are essential tools in modern hematology.
    • Quantitative molecular assays are crucial for monitoring minimal residual disease and guiding clinical decisions in leukemia and lymphoma.
    • The experience gained supports the establishment of standardized molecular diagnostic guidelines.