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Updated: Aug 8, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
Immunophenotyping of aneuploid cells
1Department of Medical Genetics, University of Helsinki, Finland.
Insights
The MAC and MACISH methods analyze chromosome abnormalities in cells. These techniques reveal clonal chromosome changes specific to certain cell types in various leukemias and lymphomas.
Area of Science:
- Cytogenetics
- Cell Biology
- Hematology
Background:
- Accurate assessment of numerical chromosome abnormalities is crucial for diagnosing and understanding hematological malignancies.
- Distinguishing between normal and abnormal cell populations requires precise methods for interphase and mitotic cell analysis.
Purpose of the Study:
- To review the morphology, antibody, chromosomes, and in situ hybridization (MACISH) methods for examining chromosome abnormalities.
- To highlight the application of MAC and MACISH techniques in classifying cells and identifying numerical chromosome aberrations.
Main Methods:
- Morphology, Antibody, Chromosomes, In Situ Hybridization (MACISH) technique.
- Analysis of interphase and mitotic cells for numerical chromosome abnormalities.
- Immunological and morphological cell classification.
Main Results:
- Mitotic B cell proportions are consistent across different lymphocyte stimulation methods.
- Bone marrow cell lineage proportions vary significantly after short-term culture.
- Clonal chromosome abnormalities are restricted to B cells in B-cell chronic lymphatic leukemia and lymphoma.
- T-cell lymphomas may exhibit clonal abnormalities in specific T-cell subpopulations or maturation stages, with normal B cells.
- Hodgkin's disease shows clonal chromosome abnormalities exclusively in Reed-Sternberg cells.
- Acute myeloid leukemia can present clonal chromosome abnormalities in granulocytic-monocytic, erythrocytic, and megakaryocytic lineages.
Conclusions:
- The MAC and MACISH methods are effective for analyzing chromosome abnormalities in specific cell types.
- These methods provide insights into the cellular origin and clonal nature of chromosome aberrations in hematological disorders.
- Findings underscore the cell-type-specific nature of chromosomal abnormalities in various leukemias and lymphomas.
Abstract:
This review article describes the MAC and MACISH (morphology, antibody, chromosomes, in situ hybridization) methods, which allow the examination of numerical chromosome abnormalities of morphologically and immunologically classified interphase or mitotic cells. Results of studies using these methods indicate that the proportion of mitotic B cells is the same in phytohemagglutinin- and pokeweed mitogen-stimulated lymphocyte cultures, that the proportions of different cell lineages vary greatly after short-term culture of bone marrow cells, that only B cells have a clonal chromosome abnormality in B-cell type chronic lymphatic leukemia and lymphoma, that a clonal chromosome abnormality of patients with T-cell lymphoma may occur in a different T cell subpopulation or at a different maturation stage in certain lineages while B cells show a normal karyotype, that only Reed-Sternberg cells have a clonal chromosome abnormality in Hodgkin's disease, and that in a proportion of patients with acute myeloid leukemia not only a granulocytic-monocytic lineage but also erythrocytic and megakaryocytic lineages show a clonal chromosome abnormality.
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