Oncology-haematology

• Cellular haematology (cytology and immunophenotyping)
• Acquired cytogenetics
• Somatic genetics

We offer a comprehensive list of analytical tests supporting the diagnosis, prognosis, and therapeutic management of all malignant haemopathies (chronic lymphoproliferative disorders and myeloma, chronic myeloproliferative disorders, myelodysplastic disorders and acute leukaemia) and a large spectrum of solid tumours (breast, lung, colorectal and gastric cancers, melanoma, sarcoma…).

Both departments are equipped with innovative technological tools (10-colour flow cytometers, automatic metaphase finders, sequencing platforms…) operated by technicians specialised in this field of biology.

Our physicians and pharmacist-pathologists are members of the following societies: GFHC (Groupe Français d’Hématologie Cellulaire; French Group of Cellular Hematology), SFH (Société Française d’Hématologie; French Society of Haematology), AFC (Association Française de Cytométrie; French Society of Cytometry), GFCH (Groupe Francophone de Cytogénétique Hématologique; French-Speaking Group for Cytogenetic Hematology), ACLF (Association des Cytogénéticiens de Langue Française; French Cytogenetics Association), GFCO (Groupe Francophone de Cytogénomique Oncologique; French Group for the study of Cytogenetics in Oncology) and GBMHM (Groupe de Biologie Moléculaire des Hémopathies Malignes; Molecular Biology Group of Haematological Malignancy)

The Department of Cellular Haematology – Cytogenetics is fully accredited for all these analyses, in accordance with the NF EN ISO 15189 standard.

Cellular haematology (cytology and immunophenotyping)

This analysis can provide or confirm a diagnosis, and guide the remaining evaluations. The cells found in blood, bone marrow, or any other type of sample (lymph node, fluid, …) are stained with May-Grünwald-Giemsa and, if necessary, using other procedures as well (Perls, myeloperoxidase). The qualitative and quantitative analyses of these cells under the microscope are performed by a specialised cytologist.

The field of cytology is also an integral part of non-malignant investigations (ex: sickle-cell disease, screening for schizocytes, etc.)

Immunophenotyping by flow cytometry investigates the antigens expressed by leukocytes found in the blood or bone marrow. Based on the expression profile, the cells are characterised as normal or pathological, mature or immature (blasts), B or T lymphoid cells, etc. This test is performed after a myelogram to confirm the diagnosis of acute leukaemia or melanoma. This information is essential for the classification of lymphoproliferative disorders: chronic lymphocytic leukaemia (calculation of the Matutes score, prognostic marker CD38), follicular lymphoma, tricoleucemia, mantle cell lymphoma… This highly sensitive technique can also detect low counts of pathological cells that resisted the treatment (residual disease), thus leading to treatment optimisation.

Our scientific resources

Acquired cytogenetics

In the case of malignant haemopathies, a combination of haematological karyotyping and haematological FISH can be used to formulate a diagnosis (ex: chronic myeloid leukaemia and the translocation t(9;22)(q34;q11)) and/or to assess the prognosis (ex: myelodysplastic disorders and the translocation t(4,14)(p16;q32)) and/or to guide the therapeutic management (ex: chronic lymphoid leukaemia and the TP53 deletion, fludarabine resistance factor). The cytogeneticist must collaborate with a pathologist specialized in cytology and immunophenotyping.

In the case of solid tumours, the FISH technique is essential to clarify a histological diagnosis (ex: Ewing sarcoma and EWS rearrangement) and/or to guide the therapeutic management (ex: invasive breast cancer and HER2 amplification, small-cell lung cancer and ALK rearrangement). For these analyses, the cytogeneticist must collaborate with a histologist.

At Eurofins Biomnis, we have at our disposal a complete panel of FISH probes for the investigation of malignant haemopathies and solid tumours.

Our scientific resources

Somatic genetics

In the case of malignant haemopathies, the techniques of somatic genetics are used to formulate a diagnosis (ex: myeloproliferative disorders and the JAK2V617F or CALR mutation) and/or to assess a prognosis and/or to guide the therapeutic management (ex: to monitor chronic myeloid leukaemia and for a quantitative analysis of the BCR-ABL fusion transcript).

In the case of solid tumours, molecular biology techniques are essential for the therapeutic management of certain tumours -companion tests for targeted therapies (ex: colorectal cancer with KRAS-NRAS mutations, non-small cell lung cancer with EGFR mutations), and they can also clarify the histological diagnosis. This result must be validated through a collaboration between a geneticist and a histologist (for example, to evaluate the infiltration rate of a tumour).

Technological evolution in the field of genetics is leaning more and more towards a personalised management of patients diagnosed with malignant haemopathies or solid tumours (ex: molecular signature assays – exome sequencing by NGS (Next Generation Sequencing) – liquid biopsies (circulating tumour DNA) …)

Our scientific resources