Molecular Hematology

• Autore: Provan Drew
• Pubblicazione: Newark : , : John Wiley & Sons, Incorporated, , 2024; ©2024
• Edizione: 5th ed.
• Descrizione fisica: 1 online resource (445 pages)
• Disciplina: 616.1/5
• Altri autori: LazarusHillard M
• Nota di contenuto: Cover -- Title Page -- Copyright Page -- Dedication Page -- Contents -- List of contributors -- Foreword -- Preface -- Chapter 1 Beginnings: the molecular pathology of hemoglobin -- Introduction -- Normal structure and function of hemoglobin and the globin genes -- The structure and function of hemoglobin -- The structure of the globin gene loci -- Transcription, processing, and translation of globin RNA -- The regulation of globin gene transcription -- The regulation of developmental globin switching -- Molecular pathology of the globin genes -- The thalassemias -- Rare mutations causing thalassemia -- β Thalassemia -- Rare forms of β thalassemia -- δβ Thalassemia and hereditary persistence of fetal hemoglobin (HPFH) -- The pathophysiology and clinical phenotypes of thalassemia -- The α thalassemias -- The β thalassemias -- Development of therapies -- Conclusion -- Further reading -- General background -- Hemoglobin genetics and structural variants -- Hemoglobin switching -- The β thalassemias -- The α thalassemias -- Evolutionary background of hemoglobin disorders -- Molecular basis of prevention and management of hemoglobin disorders -- Chapter 2 Stem cells -- Introduction -- Stem cell definitions and distinctions -- Hematopoietic stem cell concepts and their origin -- The cellular compartment model -- Models of lineage commitment -- Molecular regulation of hematopoiesis -- Cell-intrinsic regulators of hematopoiesis -- Cell-extrinsic regulators -- Components of the hematopoietic microenvironmental niche -- Trafficking of primitive hematopoietic cells -- Hematopoietic ontogeny -- Homing and engraftment of HSPCs following infusion -- Egress of HSCs from bone marrow under physiological conditions -- Manipulating hematopoietic stem cells for clinical use -- Mobilization of HSCs -- Isolating stem cells for manipulation. ; HSC from induced pluripotent stem cells -- Functional analysis of HSCs -- Summary -- Further reading -- Regulation of hematopoiesis -- Hematopoietic stem cell niche -- Hematopoietic stem cell quiescence -- Isolation of hematopoietic stem cells -- Hematopoietic stem/progenitor cell expansion -- Hematopoietic stem cell engraftment -- Chapter 3 The genetics of acute myeloid leukemia -- Introduction -- AML with recurrent cytogenetic abnormalities -- Core-binding factor leukemias -- Acute promyelocytic leukemia -- KMT2A gene rearrangements (11q23) -- Other rare chromosomal translocations -- Numerical chromosomal abnormalities -- Molecular genetic aberrations not detectable by conventional cytogenetics -- Driver gene mutations -- NPM1 -- Activated signaling -- FLT3 -- c-KIT -- Myeloid transcription factors -- RUNX1 -- CEBPA -- Tumor suppressors -- TP53 -- WT1 -- BCOR -- Spliceosome genes -- Cohesin complex gene -- DNA methylation -- DNMT3A -- IDH1 and IDH2 -- EZH2 -- TET2 -- Chromatin modifiers -- ASXL1 -- KTM2A (formerly MLL) -- Germline predisposition -- AML therapies and MRD monitoring targeted by genetics -- Summary -- Further reading -- Genetics of AML -- Core-binding factor leukemias -- NPM1 -- Activated signaling -- Myeloid transcription factors (RUNX1, CEBPA) -- Tumor suppressors (BCOR, TP53) -- Spliceosome genes -- Cohesin complex genes -- DNA methylation (EHZ2, TET2, IDH1/IDH2, DNMT3A) -- Chromatin modifiers -- Germline predisposition -- AML therapies and MRD monitoring targeted by genetics -- Chapter 4 Molecular diagnostics and risk assessment in myeloid malignancies -- Introduction -- A disease continuum -- General methodology of cytogenetic analysis in hematologic malignancies -- Methods of detection -- Genetic and clinical consequences of chromosomal translocation -- Karyotypic evolution -- Clinical implications -- Treatment selection. ; Recurrent cytogenetic abnormalities in MDS -- Recurrent cytogenetic aberrations in AML -- Therapy-related chromosomal aberrations in AML post cytotoxic therapy -- Recurrently mutated genes in MDS -- Mutations in splicing factors -- Epigenetic regulators -- Histone modification -- DNA methylation -- Cohesin complex -- Transcription factors -- Cell signaling genes -- TP53 -- Recurrently mutated genes in AML -- Differences and similarities of the WHO classification 2022 and the ICC 2022 -- References -- Further reading -- Chapter 5 Molecular basis of acute lymphoblastic leukemia -- Introduction -- B-cell precursor acute lymphoblastic leukemia -- High hyperdiploid ALL -- Hypodiploid ALL -- Intrachromosomal amplification of chromosome 21 (iAMP21) -- ETV6::RUNX1 and ETV6::RUNX1-like ALL -- TCF3-rearranged ALL (TCF3::PBX1 and TCF3::HLF) -- KMT2A-rearranged ALL -- BCR::ABL1 (Ph+) and Ph-like ALL -- DUX4-rearranged ALL -- MEF2D-rearranged ALL -- ZNF384-rearranged leukemia -- PAX5-driven ALL (PAX5alt and PAX5 P80R) -- CDX2/UBTF ALL -- NUTM1-rearranged ALL -- IKZF1 N159Y -- Other subtypes of B-ALL -- T-cell precursor acute lymphoblastic leukemia (T-ALL) -- Early T-cell precursor (ETP) ALL, immature T-ALL, and BCL11B-activated leukemia -- TLX1 and TLX3-driven T-ALL -- TAL1- and class II basic helix-loop-helix (bHLH) factor-deregulated T-ALL -- Other subtypes of T-ALL -- Summary -- Further reading -- Chapter 6 Chronic myelogenous leukemia -- Introduction -- Epidemiology -- Clinical presentation and natural history -- Prognostic models -- Molecular biology -- BCR::ABL1 oncogene -- BCR::ABL1 kinase signaling pathways -- Therapy -- General -- Frontline CML therapy -- Selection of frontline TKI therapy -- Discontinuation of TKI therapy and TFR -- Which treatment endpoints/milestones are clinically relevant in CML? -- Monitoring response and resistance. ; Distinguishing CML failure due to toxicities/intolerance versus true resistance -- Management of TKI "Failure" due to side effects/intolerance -- Management of CML post-TKI resistance (true CML failure) -- Other therapies -- Pregnancy and CML -- Allogeneic hematopoietic stem cell transplantation -- Therapy of CML-AP and CML-BP -- Philadelphia chromosome-negative CML -- Summary -- Further reading -- Molecular biology of CML -- Prognostic factors and models -- Interferon-α -- Allogeneic hematopoietic stem cell transplantation -- Imatinib and other tyrosine kinase inhibitors -- Mechanisms of resistance to tyrosine kinase inhibitors -- Chapter 7 Myeloproliferative neoplasms -- Introduction -- JAK-STAT pathways with a focus on JAK2 -- The JAK2 V617F mutation in Philadelphia-negative MPNs -- JAK2 V617F: One mutation yet multiple phenotypes -- Other JAK2 mutations -- JAK2 exon12 mutations -- JAK2 variants and eosinophilia -- Germline JAK2 mutations -- JAK2 germline haplotype -- MPL mutations in ET and MF -- CALR mutations in ET and MF -- Other somatic mutations in ET, MF, and PV -- Reticulin deposition in MPN -- Chronic neutrophilic leukemia -- Chronic eosinophilic leukemia and other eosinophilic disorders -- Integration of molecular information into diagnostic algorithms and prognostication -- Conclusions -- Further reading -- Introduction -- The JAK2 V617F mutation in Philadelphia- negative MPNs -- JAK2 exon12 mutations -- JAK2 variants and eosinophilia -- Germline JAK2 mutations -- JAK2 germline haplotype -- MPL mutations in ET and MF -- CALR mutations in ET and MF -- Other somatic mutations in ET, ET, and ET -- Chronic neutrophilic leukemia -- Chronic eosinophilic leukemia and other eosinophilic disorders -- Integration of molecular information into diagnostic algorithms and prognostication -- Chapter 8 Lymphoma genetics -- Introduction -- Techniques. ; Burkitt lymphoma -- Diffuse large B-cell lymphoma, not otherwise specified -- Mantle cell lymphoma -- Follicular lymphoma -- Lymphoplasmacytic lymphoma -- Marginal zone lymphoma -- Chronic lymphocytic leukemia/small lymphocytic lymphoma -- Anaplastic large cell lymphoma -- Nodal T-follicular helper (TFH) cell lymphoma -- Peripheral T-cell lymphoma, not otherwise specified -- Conclusions -- Further reading -- Introduction -- Techniques -- Burkitt lymphoma -- Diffuse large B-celllymphoma -- Mantle cell lymphoma -- Follicular lymphoma -- Lymphoplasmacytic lymphoma -- Marginal zone lymphomas -- CLL/SLL -- Anaplastic large cell lymphoma -- Nodal T-follicularhelper (TFH) cell lymphoma -- Peripheral T-celllymphoma, not otherwise specified -- Chapter 9 Molecular basis of chronic lymphocytic leukemia -- Introduction and definition -- Epidemiology -- Genetic factors -- Environmental factors -- Molecular biology of CLL -- IGHV mutations status -- Chromosome abnormalities -- Somatic mutations -- MicroRNA changes -- Epigenetic factors -- B-cell receptor signaling pathway -- BCL2 family -- CLL microenvironment -- Impaired immunity in CLL -- Richter transformation -- Definition -- Morphology and immunophenotype -- Clonal relatedness between CLL and lymphoma -- Biology of Richter's DLBCL -- Conclusion -- Further reading -- Chapter 10 The molecular biology of multiple myeloma -- Introduction -- Normal plasma cell development -- Development of myeloma cell -- Hyperdiploidy/trisomies -- IgH translocations -- Cyclin D dysregulation -- Progression to multiple myeloma -- Del (13q) -- RAS abnormalities -- MYC signaling -- Aberrant NF-B signaling -- Deletion of 17p [del(17p)] including TP53 -- Chromosome 1q gain, amplification -- Del (1p32) -- Bone marrow microenvironment -- Classification and risk stratification of myeloma -- Conclusion -- Further reading. ; Chapter 11 The molecular basis of bone marrow failure syndromes and red cell enzymopathies.
• Titolo autorizzato: Molecular Hematology
• ISBN: 1-394-18046-2; 1-394-18048-9
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910877406603321
• Lo trovi qui: Univ. Federico II