Contact informationPlease contact Francesca Micci for more information
Diagnosis in the molecular era
As a part of our diagnostic service for Oslo University Hospital, but also many other hospitals in Norway and abroad we are developing our laboratory accordingly with the new knowledge that is generated in the field in the recent years.
Beside the karyotypic analysis, that is and will be the main screening methodology for cancer samples, we are focusing on developing the FISH and the molecular laboratories. FISH has been proven to be a robust method for detection of known aberrations in metaphase spreads and interphase nuclei. We are currently using most of the commercially available probes and kits for ALL, AML, KML, KLL, and multiple myelomas. Furthemore, we produce “in house” probes from Bacterial Artificial Chromosomes (BAC) whenever it is necessary to do so.
We are planning to implement the diagnostic FISH by introducing the following tests:
- Identification of a COL1A1- PDGF fusion coming from a 17;22-translocation in dermatofibrosarcoma protuberans. The translocation fuses the collagen gene (COL1A1) with the platelet-derived growth factor (PDGF) gene.
- Identification of 4q-deletion in myeloid leukemias. The rearrangement is present in a subgroup of patients that undergo a specific treatment.
- Identification of 5q32-rearrangements leading to formation of fusion transcripts involving the PDGFRB (platelet-derived growth factor receptor, beta polypeptide).
- Identification of involvements of the ZNF384 (zinc finger 384) gene in fusion transcripts in B-cell precursor acute lymphoblastic leukemia.
The molecular laboratory at the section for Cancer Cytogenetics is a relatively “young-lab” as it has started to receive samples in the year 2013. Since then we have provided information on the mutation status for the isocitrate dehydrogenase 1 (IDH1) and 2 (IDH2) genes as well as assessed the methylation status of the promoter of the O6-methylguanine-DNA methyltransferase (MGMT) gene. The laboratory has grown every year by doubling the amount of samples analyzed. These analyses are performed specifically on brain tumors; however they can be extended to other type of tumors if it is required!
Accordingly to the latest version of the World Health Organization (WHO) Classification of Tumors of the Central Nervous System (CNS; year 2016), there are a number of molecular tests that can provide a correct classification for these tumors. For the first time, the WHO classification of CNS tumors uses molecular parameters in addition to histology to define many tumor entities, thus formulating a concept for how CNS tumor diagnoses should be structured in the molecular era. As such, the 2016 CNS WHO presents major restructuring of the diffuse gliomas, medulloblastomas, and other embryonal tumors, and incorporates new entities that are defined by both histology and molecular features. Three of the mentioned molecular analyses are already well established in our lab, i.e., IDH1and IDH2 mutation status and MGMT promoter methylation. Our ambition is to establish some, if not all, the other tests that are required for the correct classification of these tumors. By doing these our institution will be offering the best diagnostic service for patients in OUH as well as from other hospitals in Norway.
This text was last modified: 06.08.2019