Acquired or onco-haematological cytogenetics is a discipline that applies two techniques: conventional cytogenetics (performance of a karyotype and search for abnormalities in number or structure) and molecular cytogenetics (Fluorescence in Situ Hybridisation or FISH) with targeted fluorescent probe).
In the context of malignant haemopathies, the combination of karyotype and haematological FISH can facilitate diagnosis (e.g. translocation t(9;22) (q34;q11) signalling CML), prognosis (e.g. EVI1 rearrangement in MDS, t(4;14) (p16;q32) translocation in myelomas), and also guide therapeutic management (e.g. TP53 deletion in CLL: resistance factor to fludarabine).
In the context of solid tumours, the FISH technique is essential to specify a histological diagnosis (e.g. EWS rearrangement in Ewing’s sarcoma) and / or guide therapeutic management (e.g. HER2 amplification in invasive breast cancer, ALK or ROS1 rearrangement in non-small cell lung cancer).
At Eurofins Biomnis, we offer a complete panel of FISH probes for the investigation of malignant haemopathies and solid tumours.
The collaboration between clinical pathologists specialised in cytology, immunophenotyping, and anatomical pathologists is crucial for the processing of samples and an optimal interpretation of the results.