Diagnostic Methods in Leukaemias and Lymphomas / UNI-MED Science (PDF)

neoplastic haematopoiesis 4.5. Lymphatic structural elements and lymphomas in the bone marrow 4.5.1. Non-neoplastic lymphatic cells in the bone marrow 4.5.1.1. Diffusely distributed lymphocytes 4.5.1.2. Peri-meta-arteriolar plasma cells 4.5.1.3. Bone marrow lymphoid nodules 4.5.2. Histotopographical typology of lymphomas in the bone marrow 4.5.2.1. Intrasinusoidal lymphomas 4.5.2.2. Perisinusoidal lymphomas 4.5.2.3. Peri-meta-arteriolar lymphomas 4.5.2.3.1. Peri-meta-arteriolar immunocytomas with pseudo-pseudo Gaucher cells 4.5.2.4. Paratrabecular lymphomas 4.5.2.5. Paratrabecular lymphomas with osteoclastic reaction 4.5.2.6. Peritrabecular lymphomas 4.5.2.7. Disordered interstitial lymphomas 4.5.2.8. Disordered tumorigenic lymphomas 4.5.3. Discordant lymphomas 4.5.4. Composite lymphomas 5. Immunophenotyping 5.1. Method of immunophenotyping using multiparameter flow cytometry (MFC) 5.1.1. Differentiation of different populations based on their light scatter characteristics 5.1.2. Use of fluorescence-labelled monoclonal antibodies 5.1.3. CD45 gating 5.1.4. Multiparameter flow cytometry 5.1.5. Sample processing 5.1.6. Use of different antibody panels 5.2. Use of immunophenotyping in diagnosis 5.2.1. Acute leukaemias 5.2.1.1. Acute lymphoblastic leukaemia (ALL) 5.2.1.1.1. Pro-B ALL 5.2.1.1.2. Common ALL (c-ALL) 5.2.1.1.3. Pre-B ALL 5.2.1.1.4. Mature B ALL 5.2.1.1.5. Pro-T ALL 5.2.1.1.6. Pre-T ALL 5.2.1.1.7. Cortical T ALL 5.2.1.1.8. Mature T ALL 5.2.1.2. Acute myeloid leukaemia (AML) 5.2.1.3. Biphenotypic acute leukaemia 5.2.2. Myelodysplastic syndromes (MDS) 5.2.3. Chronic myeloid leukaemia (CML) 5.2.4. Mature B-cell neoplasms 5.2.4.1. B-CLL and B-PLL 5.2.4.2. Marginal zone lymphoma and related B-cell neoplasms 5.2.4.3. Hairy cell leukaemia 5.2.4.4. Plasmacytoma 5.2.4.5. Follicular lymphoma 5.2.4.6. Mantle cell lymphoma 5.2.4.7. Diffuse large B-cell lymphoma 5.2.4.8. Burkitt's lymphoma 5.2.5. T-cell and NK-cell neoplasms 5.2.5.1. T-cell and NK-cell large granular lymphocytic (LGL) leukaemia 5.2.5.2. Mycosis fungoides, Sezary syndrome 5.2.5.3. T-prolymphocytic leukaemia (T-PLL) 5.2.6. PNH 5.3. Monitoring of minimal residual disease (MRD) 5.3.1. MRD in ALL 5.3.2. MRD in AML 5.3.3. MRD in CLL 6. Cytogenetics and fluorescence in situ hybridisation 6.1. Chromosome analysis 6.1.1. Importance of chromosome analysis, indication 6.1.2. Examination material 6.1.3. Conventional chromosome analysis using banding techniques 6.2. Fluoroescence in situ hybridisation (FISH) 6.2.1. Interphase FISH 6.2.2. Metaphase FISH 6.2.2.1. 24-colour FISH 6.2.3. Comparative genome hybridisation (CGH) 6.3. Nomenclature 6.3.1. Chromosome analysis 6.3.2. Fluorescence in situ hybridisation on interphase nuclei 6.4. Characteristic cytogenetic changes in AML 6.4.1. De novo AML 6.4.2. Secondary treatment-associated AML 6.5. Characteristic cytogenetic changes in ALL 6.6. Characteristic cytogenetic changes in CML 6.6.1. Primary diagnosis 6.6.2. Cytogenetic findings for treatment monitoring 6.7. Characteristic cytogenetic changes in CLL 6.8. Characteristic cytogenetic changes in NHL 7. Molecular genetics 7.1. Molecular methods in the diagnosis of leukaemias and lymphomas 7.1.1. Southern blot 7.1.2. Polymerase chain reaction (PCR) 7.1.2.1. Nested PCR 7.1.2.2. Fragment analysis (gene scan) 7.1.2.3. Chimerism analyses using microsatellite polymorphisms 7.1.2.4. Real time PCR 7.1.3. Sequence analysis 7.1.4. Method for mutation screening 7.2. Use of molecular methods in the diagnosis and during the course of the disease 7.2.1. Molecular methods in the diagnosis 7.2.2. Monitoring of remission using different PCR techniques 7.2.3. Sample material 7.3. Diagnosis of AML 7.3.1. Detection of fusion genes 7.3.2. Molecular mutations in acute myeloid leukaemia (AML) 7.3.3. Monitoring of remission in AML 7.4. Molecular diagnosis in myelodysplastic syndromes (MDS) 7.4.1. Detection of deletions in MDS 7.4.2. Detection of fusion genes in MDS 7.4.3. Molecular mutations in MDS 7.4.4. Marker in the course of MDS 7.5. Diagnosis of CML 7.5.1. Monitoring of disease course in CML 7.5.2. Imatinib resistance in BCR-ABL-positive leukaemia 7.6. Other myeloproliferative neoplasias (MPN) 7.6.1. Polycythaemia rubra vera 7.6.2. Essential thrombocythaemia 7.6.3. Osteomyelofibrosis 7.6.4. Chronic eosinophilic leukaemia 7.7. Lymphatic leukaemias and lymphomas 7.7.1. Molecular diagnosis of ALL 7.7.2. Molecular changes in ALL 7.7.3. Monitoring of the disease course in ALL 7.8. Molecular genetics in lymphomas 7.8.1. Chronic lymphatic leukaemia (CLL) 7.8.1.1. Deletions in CLL 7.8.1.2. Gene rearrangements in CLL 7.8.1.3. VH hypermutations in CLL 7.8.2. Mantle cell lymphoma (MCL) 7.8.3. Follicular lymphoma (FL) 7.8.4. MALT lymphomas 7.8.5. Lymphoplasmacytic lymphoma/immunocytoma (LPL) 7.8.6. Other marginal zone B-cell lymphomas 7.8.7. Hairy cell leukaemia 7.8.8. Plasmacytoma 7.8.9. Burkitt's lymphoma 8. Gene expression analysis 8.1. Microarrays 8.2. Methodological basis 8.3. Examination material 8.4. Preparation 8.5. Signal detection and data recording 8.6. Data analysis and visualisation 8.7. Classification 8.8. Studies to date 8.9. Limitation 8.10. Outlook 9. Proteomics using the example of AML 9.1. Classics: two-dimensional gel electrophoresis, followed by MALDI-TOF mass spectrometry 9.2. SELDI-TOF-MS and nHPLC-MS/MS 9.3. Chips: fishing not possible 10. List of abbreviations