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Molecular Pathology

The Molecular Pathology rotation teaches fundamental concepts in the design and execution of molecular diagnostic assays used in oncology, infectious diseases, and genetic diseases. Medical relevance of such testing and proper test utilization is stressed during the rotation.

Emphasis is placed on understanding the principles of molecular biology used in each test and the characteristics of the gene involved in each disease. Residents are therefore provided the opportunity to read pertinent literature and review critical concepts with the laboratory Director. Residents also learn how each test is performed. Detailed protocols are reviewed, and residents carry out representative assays using patient material. They interpret data and study alternative clinical applications for each test. The rotation is complemented by lectures on selected topics in Molecular Pathology presented during the clinical pathology lecture series.

Typical diagnostic assays run include:

• Molecular Oncology:
  Use of Southern blot analysis and polymerase chain reaction (PCR) to detect immunoglobulin heavy chain rearrangements of PCR to detect bcl-1 and bcl-2 translocations in the diagnosis of mantle cell and follicular center cell lymphomas, respectively; use of reverse-transcription PCR (RT/PCR) to detect c-abl translocations in the diagnosis of CML and ALL; and use of in-situ hybridization to detect Epstein-Barr viral infection in B-cell lymphoproliferative disease.

• Infectious disease
  Use of PCR to confirm infection with mycobacteria spp; and use of RT/PCR to identify infection with hepatitis C virus and HIV viral load qualifications.

• Genetic Disease
  Use of Southern blot analysis and PCR to detect mutations in Fragile X Syndrome. PCR for detection of factor V Leiden mutation.