Tumor Cytogenetics deals with the analysis of acquired chromosome abnormalities in cases of hematological neoplasms and solid tumors. Characteristic chromosome abnormalities often occur together with a defined type of tumor and are associated with neoplastic transformation. They are considered to be primary abnormalities. Secondary abnormalities occur with progression of the disease and may contribute to tumor progression as genome instability increases.
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What can be achieved by Tumor Cytogenetics?
The cytogenetic analysis of peripheral blood and bone marrow nowadays forms part of the standard tests performed to diagnose malignant hematological diseases. Cytogenetic analysis includes classical chromosome analysis together with fluorescence in situ hybridization (FISH). Cytogenetic analysis makes an important contribution to the confirmation and specification of a tentative diagnosis, prognosis assessment, therapy options and control of disease progression. Moreover, the identification of specific genetic markers related to the malignant cell clone may also be used to monitor therapy.
Tumor cytogenetic analysis is performed for the following diseases:
- Chronic myeloproliferative disorder (CMPE)
- Myelodysplastic/ myeloproliferative disorders
- Myelodysplastic Syndrom (MDS)
- Acute myeloid leukemias (AML)
- Biphenotypic acute leukaemia (BAL)
Acute Lymphocytic Leukemia
- B-Cell acute lymphocytic leukemia (B-ALL)
- T-Cell acute lymphocytic leukemia (T-ALL)
A chromosomal analysis will be done at prepared metaphases using computer-controlled karyotyping.
FISH-analysis makes more fine submicroscopic changes visible and it also enables a screening for frequent tumorassociated aberrations in case of less proliferative behaviour of the tumor cells (e.g. Plazmozytom, Chronic Lymphocytic Leukaemia).
The spectral karyotyping (SKY) is an important further development of the FISH-method and gains in importance in molecular-cytogenetic tumour diagnostics. Even complex aberrant rearrangements with unknown translocation partners or marker chromosomes with unknown origin can be broken down applying SKY.