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
• Soggetto topico: Hematology, Experimental; Stem cells; Hematologic Diseases; Molecular Biology - methods
• 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.
• Sommario/riassunto: Molecular Hematology, Fifth Edition, edited by Drew Provan and Hillard M. Lazarus, provides an extensive exploration of the molecular basis of hematological disorders. It covers a wide range of topics including the molecular pathology of hemoglobin, stem cells, and the genetic underpinnings of various leukemias and lymphomas. The book delves into molecular diagnostics, risk assessment, and therapeutics in hematology, including the latest advancements in gene therapy and CAR-T cell therapy. It is designed for researchers, clinicians, and students in the fields of hematology and molecular medicine, aiming to enhance understanding of the molecular mechanisms driving blood-related diseases and their implications for diagnosis and treatment.
• Titolo autorizzato: Molecular Hematology
• ISBN: 9781394180462; 1394180462; 9781394180486; 1394180489
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9911019820103321
• Lo trovi qui: Univ. Federico II