Start main page content

Somatic Cell Genetics

Head of the Unit: Dr. Pascale Willem

The unit performs highly specialized tests to detect, characterize and monitor acquired genetic alterations in the context of disease, largely haematological malignancies. The unit also develops, evaluates and implements novel molecular diagnostic techniques with an emphasis on carcinogenesis. Conventional cytogenetic analyses, FISH, quantitative real-time PCR, sequencing, microarray analysis as well as sequencing of BCR-ABL, c-KIT mutations and PDGFR alpha in gastrointestinal stromal tumours are performed. The unit offers a wide variety of specialized molecular cytogenetic tests and the diagnostic volumes continue to grow year on year over the past ten years, due to the continuous increased in the number of molecular targets of therapy being identified.


The research activities focused on the genetics of cancer have been as follow:

  • Characterization of genome wide aberrations in oesophageal squamous carcinoma
  • Molecular characterization of HIV-related lymphoma
  • Identification and targeted sequencing of genes involved in B-cell lymphoma unclassifiable with features intermediate between Diffuse Large B-cell Lymphoma and Burkitt Lymphoma in HIV positive patients
  • Characterization of Genome Wide Genetic Instability in young black patients with colorectal carcinoma
  • Investigating IKZF1 deletions in a cohort of South African acute lymphoblastic leukemia patients.
  • Epidemiology and pathology of HIV-related malignancies