Atlas of Diagnostic Hematology

Front Cover
IFC
Atlas of DIAGNOSTIC HEMATOLOGY
Atlas of DIAGNOSTIC HEMATOLOGY
Copyright
Dedication
PREFACE
CONTRIBUTORS
CONTENTS
1 -
Normal Hematopoiesis and Blood Cell Maturation
	HEMATOPOIETIC DEVELOPMENT
	ROAD MAPS OF HEMATOPOIESIS: CELLULAR PATHWAYS AS HSCS DIFFERENTIATE INTO TERMINALLY MATURE CELLS
		Transcriptional Control of Hematopoiesis
		Hematopoietic Niche
	REFERENCES
2 -
Growth Factors
	HEMATOPOIETIC CYTOKINES AND GROWTH FACTORS
	SIGNALING AT DIFFERENT STAGES OF HEMATOPOIESIS
	CYTOKINE RECEPTORS
	SIGNALING PATHWAYS DOWNSTREAM OF CYTOKINE RECEPTORS
		WNT Pathway
		The Ras/MAPK Kinase Pathway
		PI3 Kinase Pathway
		JAK-STAT Pathway
		Cytokine Signaling Pathways
	MUTATIONS IN SIGNALING COMPONENTS LEAD TO CLONAL HEMATOPOIESIS AND HEMATOLOGIC DISORDERS
	REFERENCES
3 -
Hypochromic and Hemolytic Anemias
	INTRODUCTION
	HYPOCHROMIC ANEMIAS
		Iron Deficiency Anemia
		Anemia of Chronic Disease
		Iron-Refractory Iron Deficiency Anemia
		Other Vitamin Deficiencies
		Hereditary Sideroblastic Anemia
	HEMOLYTIC ANEMIAS
		Hypochromic and Hemolytic Anemias
		α-Thalassemia
		β-Thalassemias
		Other Thalassemias
	HEMOLYSIS WITHOUT HYPOCHROMIA
		Congenital
			Structural Hemoglobin Disorders
				. Sickle cell disease (homozygous S hemoglobin) is a severe hemolytic anemia with a markedly shortened red blood cell life span....
				. Hemoglobin C is a slightly less common structural hemoglobin variant, with the highest frequency in West Africa, potentially a...
				. Unstable hemoglobins may lead to a congenital hemolytic anemia with Heinz bodies visible from hemoglobin precipitation on a pe...
					. Membrane defects cause hemolysis by the inability of the erythrocyte to withstand normal shear stress and distortion required ...
			Hereditary Spherocytosis
			Hereditary Elliptocytosis
			Osmotic Defects
			Hereditary Xerocytosis
			Hereditary Stomatosis
			Acquired Osmotic Defects
			Enzyme Deficiencies
			Pyruvate Kinase Deficiency
			Acquired Causes of Hemolytic Anemia
				. Autoimmune hemolytic anemia may develop as a result of underlying autoimmune disease (particularly systemic lupus erythematosu...
				. Paroxysmal cold hemoglo
				. Multiple mechanisms of drug-induced hemolysis have been described. Although proven cases are quite rare, estimated at 1 in 1 m...
				. Alloimmune hemolytic disease of the fetus and newborn results from transplacental transmission of maternal antibodies that bin...
				. Increased intravascular hemolysis may be caused by mechanical disruption in the vasculature or partial vascular occlusions.69 ...
				. Paroxysmal nocturnal hemoglobinuria (PNH) results from an acquired mutation in hematopoietic stem cells in the PIGA gene, loca...
		Infectious Causes of Hemolytic Anemia
		Other Systemic Illnesses and Hemolytic Anemia
			Hyperthyroidism
			Renal Disease
			Decrease in Erythropoietin
	REFERENCES
4 -
Megaloblastic Anemia
	GENERAL OVERVIEW AND INCIDENCE
	ETIOLOGY AND HISTOPATHOLOGY
	REFERENCES
5 -
Myeloproliferative Neoplasms
	GENERAL OVERVIEW
	Anchor 253
	POLYCYTHEMIA VERA
		Differential Diagnosis
	ESSENTIAL THROMBOCYTHEMIA
		Differential Diagnosis
	PRIMARY MYELOFIBROSIS
		Clinical Presentation
		Differential Diagnosis
		Epidemiology and Prognosis
		Complications
	CHRONIC MYELOID LEUKEMIA
		Differential Diagnosis
	REFERENCES
6 -
Mast Cell and Non-Myeloproliferative Myeloid Neoplasms
	GENERAL OVERVIEW AND INCIDENCE
		Incidence/Etiology
		Clinical Presentation5–7
		Diagnostic Features/Classification
	LABORATORY MANIFESTATIONS/PATHOLOGIC FEATURES
		Cytogenetic Features
		Molecular Genetic Features
	REFERENCES
7 -
Myelodysplastic Syndromes
	GENERAL OVERVIEW
	WHO CLASSIFICATION
	MORPHOLOGIC FEATURES
		Erythroid Cells
		Myeloid Cells
		Megakaryocytes
	FLOW CYTOMETRY IN MDS
	CYTOGENETICS AND MOLECULAR ABNORMALITIES
	SPECIAL CONSIDERATIONS
		MDS With Isolated 5q Deletion
		Hypocellular MDS
		MDS With Fibrosis
	REFERENCES
8 -
Acute Myeloid Leukemia
	A BRIEF OVERVIEW OF ACUTE MYELOID LEUKEMIA
	BASIC PATHOPHYSIOLOGIC PRINCIPLES
	EPIDEMIOLOGY
	CLINICAL PRESENTATION
	LABORATORY MANIFESTATIONS
	PATHOLOGIC FEATURES
	CYTOGENETIC FEATURES
	MOLECULAR GENETIC FEATURES
	CLASSIFICATION SYSTEMS
	PROGNOSIS
	THE UNIQUE CASE OF ACUTE PROMYELOCYTIC LEUKEMIA
	REFERENCES
9 -
Precursor Lymphoid Neoplasms
	GENERAL OVERVIEW AND INCIDENCE
	ETIOLOGY
	CLINICAL PRESENTATION
	DIAGNOSTIC FEATURES
	LABORATORY MANIFESTATIONS
	HISTOPATHOLOGIC FEATURES
		Differential Diagnoses
	IMMUNOPHENOTYPIC FEATURES
	CYTOGENETIC FEATURES
	MOLECULAR GENETIC FEATURES
	REFERENCES
10 -
B-Cell Chronic Lymphoid Leukemias
	CHRONIC LYMPHOCYTIC LEUKEMIA/SMALL LYMPHOCYTIC LYMPHOMA
	MONOCLONAL B-CELL LYMPHOCYTOSIS
	B-CELL PROLYMPHOCYTIC LEUKEMIA
	HAIRY CELL LEUKEMIA
	HAIRY CELL LEUKEMIA VARIANT
	SPLENIC MARGINAL ZONE LYMPHOMA AND OTHER RARE SPLENIC LYMPHOMAS
	LYMPHOPLASMACYTIC LYMPHOMA
	FOLLICULAR LYMPHOMA
	MANTLE CELL LYMPHOMA
	BURKITT LYMPHOMA AND LARGE B-CELL LYMPHOMAS
	PLASMA CELL LEUKEMIA
	REFERENCES
11 -
Hodgkin Lymphoma
	GENERAL OVERVIEW AND INCIDENCE
		Epidemiology
		Etiology
			Clinical Features
			Diagnostic Studies
	NODULAR SCLEROSIS CLASSIC HODGKIN LYMPHOMA
	MIXED CELLULARITY CLASSIC HODGKIN LYMPHOMA
	LYMPHOCYTE-RICH CLASSIC HODGKIN LYMPHOMA
	LYMPHOCYTE-DEPLETED CLASSIC HODGKIN LYMPHOMA
	GENETICS OF CLASSIC HODGKIN LYMPHOMA
	NODULAR LYMPHOCYTE-PREDOMINANT HODGKIN LYMPHOMA
	GENETICS OF NODULAR LYMPHOCYTE-PREDOMINANT HODGKIN LYMPHOMA1
	REFERENCES
12 - Indolent and Aggressive B-Cell Lymphoma
	INTRODUCTION
		Follicular Lymphoma
		In Situ Follicular Neoplasia
		Pediatric-Type Follicular Lymphoma
	12
		Primary Cutaneous Follicle Center Lymphoma
		Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
		Mantle Cell Lymphoma
		Marginal Zone Lymphoma
		Small B-Cell Lymphomas With Splenic Involvement
		Lymphoplasmacytic Lymphoma
	AGGRESSIVE B-CELL NEOPLASMS
		Burkitt Lymphoma
		Burkitt-Like Lymphoma With 11q Aberration
		High-Grade B-Cell Lymphoma
		Diffuse Large B-Cell Lymphoma
		Primary Mediastinal Large B-Cell Lymphoma
		Gray Zone Lymphoma
		T-Cell/Histiocyte-Rich Large B-Cell Lymphoma
		Large B-Cell Lymphoma With IRF4 Rearrangement
		Anaplastic Lymphoma Kinase–Positive Large B-Cell Lymphoma
		EBV-Positive DLBCL, Not Otherwise Specified
		Plasmablastic Lymphoma
		Lymphomatoid Granulomatosis
		Intravascular Large B-Cell Lymphoma
		Fibrin-Associated Diffuse Large B-Cell Lymphoma
		Primary Effusion Lymphoma
	REFERENCES
13 -
Indolent and Aggressive Mature T-Cell and Natural Killer–Cell Lymphomas
	Overview and Incidence
		Etiology and Histopathology
			Clinical Features
			Diagnostic Studies
			Current Clinical and Radiologic Staging
		T-Cell Large Granular Lymphocytic Leukemia
			Overview and Incidence
			Etiology and Histopathology
			Clinical Course
	13
		Diagnostic Studies
			Current Clinical and Radiologic Staging
		Aggressive Natural Killer–Cell Leukemia
			Overview and Incidence
			Etiology and Histopathology
			Clinical Course
			Diagnostic Studies
			Current Clinical and Radiologic Staging
		Chronic Lymphoproliferative Disorder of Natural Killer Cells
			Overview and Incidence
			Etiology and Histopathology
			Clinical Course
			Diagnostic Studies
			Current Clinical and Radiologic Staging
		Adult T-Cell Leukemia/Lymphoma (ATLL)
			Overview and Incidence
			Etiology and Histopathology
			Clinical Course
			Diagnostic Studies
			Current Clinical and Radiologic Staging
	CUTANEOUS T-CELL LYMPHOMAS WITH SIGNIFICANT LEUKEMIC INVOLVEMENT
		Mycosis Fungoides and Sézary Syndrome
			Overview and Incidence
		Etiology and Histopathology
			Clinical Course
			Diagnostic Studies
			Current Clinical and Radiologic Staging
		Hepatosplenic T-Cell Lymphoma
			Overview and Incidence
			Etiology and Histopathology
			Clinical Features
			Diagnostic Studies
			Current Clinical and Radiologic Staging
		Systemic EBV+ T-Cell Lymphoma of Childhood
			Overview and Incidence
			Etiology and Histopathology
			Clinical Course
			Diagnostic Studies
			Current Clinical and Radiologic Staging
		Chronic Active EBV Infection of T- and NK-Cell Type, Systemic Form
			Overview and Incidence
			Etiology and Histopathology
			Clinical Course
			Diagnostic Studies
			Current Clinical and Radiologic Staging
	NODAL-BASED T-CELL LYMPHOMAS
		Peripheral T-Cell Lymphoma, Not Otherwise Specified
			Overview and Incidence
			Etiology and Histopathology
			Clinical Course
			Diagnostic Studies
			Current Clinical and Radiologic Staging
		Angioimmunoblastic T-Cell Lymphoma and Other Nodal Lymphomas of T-Follicular Helper Cell Origin
			Overview and Incidence
			Etiology and Histopathology
			Clinical Course
			Diagnostic Studies
			Current Clinical and Radiologic Staging
		Anaplastic Large Cell Lymphoma, Anaplastic Lymphoma Kinase–Positive
			Overview and Incidence
			Etiology and Histopathology
			Clinical Course
			Diagnostic Studies
			Current Clinical and Radiologic Staging
		Anaplastic Large Cell Lymphoma, Anaplastic Lymphoma Kinase–Negative
			Overview and Incidence
			Etiology and Histopathology
			Clinical Course
			Diagnostic Studies
			Current Clinical and Radiologic Staging
	PREDOMINANTLY EXTRANODAL (NONCUTANEOUS) T- AND NATURAL KILLER–CELL LYMPHOMAS WITHOUT SIGNIFICANT LEUKEMIC INVOLVEMENT
		Extranodal Natural Kill–/T-Cell Lymphoma, Nasal Type
	INTESTINAL T-CELL LYMPHOMA
		Introduction
			Enteropathy Associated T-Cell Lymphoma
			Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma (MEITL)
			Indolent T-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract
		Subcutaneous Panniculitis-Like T-Cell Lymphoma
		Breast Implant–Associated Anaplastic Large Cell Lymphoma
			Hydroa Vacciniforme–Like Lymphoproliferative Disorder
			Severe Mosquito Bite Allergy
	CUTANEOUS T-CELL LYMPHOMAS WITHOUT SIGNIFICANT LEUKEMIC INVOLVEMENT
		Primary Cutaneous CD30+ T-Cell Lymphoma
			Anaplastic Large Cell Lymphoma, Primary Cutaneous
			Lymphomatoid Papulosis
		Primary Cutaneous Peripheral T-Cell Lymphomas, Rare Subtypes
			Primary Cutaneous γ/δ T-Cell Lymphoma
			Primary Cutaneous CD8+ Aggressive Epidermotropic Cytotoxic T-Cell Lymphoma
			Primary Cutaneous Acral CD8+ T-Cell Lymphoma
			Primary CD4+ Small/Medium T-Cell Lymphoproliferative Disorder
	REFERENCES
14 -
Myeloma and Related Conditions
	GENERAL OVERVIEW AND INCIDENCE
	ETIOLOGY AND HISTOPATHOLOGY
		Immunophenotypic Characteristics of Plasma Cell Neoplasm
	CLINICAL MANIFESTATIONS
		Anemia
		Bone Disease
		Renal Failure
		Hypercalcemia
		Neurologic Symptoms
		Hyperviscosity
		Infections
		Amyloidosis
		Laboratory Manifestations
		Investigations to Detect Clonality
			Protein Electrophoresis
			Serum-Free Light Chain
		Investigations for End-Organ Damage
			Radiographic Evaluation
			Renal Function
			Hemogram and Serum Calcium
	CLINICAL AND PATHOLOGIC STAGING
		Cytogenetic and Molecular Features in Multiple Myeloma
			Future Directions
	REFERENCES
15 -
Childhood Hematopoietic Disorders
	GENERAL OVERVIEW AND INCIDENCE
	ETIOLOGY
	CLINICAL PRESENTATION
	LABORATORY MANIFESTATIONS
	PEDIATRIC PATHOLOGIC DISEASE ENTITY EXAMPLES
	REFERENCE
16 -
POSTTRANSPLANT LYMPHOPROLIFERATIVE DISORDERS AND IMMUNODEFICIENCY
	GENERAL OVERVIEW AND INCIDENCE
		Etiology/Histopathology
	CLINICAL PRESENTATION
	LABORATORY MANIFESTATIONS
	DIAGNOSTIC/PATHOLOGIC ENTITY AND CASE EXAMPLES
	CYTOGENETIC FEATURES
	MOLECULAR GENETIC FEATURES
	REFERENCE
17 -
Infectious Processes in Blood and Bone Marrow
	VIRAL INFECTIONS
	BACTERIAL INFECTIONS
	FUNGAL INFECTIONS
	PARASITIC INFECTIONS
	DIFFERENTIAL DIAGNOSIS
	REFERENCES
18 -
Hemophilia
	GENERAL OVERVIEW AND INCIDENCE
		Overview of Hemophilia
		Coagulation
			Roles of Factors VIII and IX in Coagulation
	INCIDENCE AND INHERITANCE
		Incidence
		Inheritance
	ETIOLOGY AND HISTOPATHOLOGY
		Factor Level Determines Bleeding Phenotype
		Molecular Basis of Hemophilia A and B
			Common Mutations
			Inversion
		Inhibitors in Hemophilia
			Incidence and Etiology
			Molecular Basis
				. The majority of mutations associated with inhibitors in both hemophilia A and B are missense mutations resulting in truncated ...
			Immunology
		Acquired FVIII Deficiency
	CLINICAL FEATURES
		Bleeding Phenotypes
		Bleeding Emergencies
		Joint Disease Progression
		Surgery in Hemophilia
		Hepatitis and Human Immunodeficiency Virus
	DIAGNOSTIC STUDIES
		Physical Examination
		Laboratory Analysis
			Factor Assays
			Inhibitor Assays
			Imaging
			Current Clinical and Pathologic Staging
	OTHER FACTOR DEFICIENCIES
		von Willebrand Disease
		Bleeding Phenotypes
		Laboratory Analysis
	REFERENCES
19 -
Transfusion Medicine and Cellular Therapy
	BLOOD COLLECTION
	BLOOD COMPONENTS
	APHERESIS
	PEDIATRIC UNITS
	LEUKOREDUCTION
	IRRADIATION
	BLOOD STORAGE
	INFECTIOUS DISEASE MARKER TESTING
	BLOOD GROUP ANTIGENS
	BLOOD GROUP ANTIGENS AND THEIR CLINICAL SIGNIFICANCE
	IMMUNOHEMATOLOGY
	PRETRANSFUSION TESTING
		Sample Collection
		ABO Typing
		Red Cell Antibody Identification
	HEMOLYTIC DISEASE OF THE FETUS/NEWBORN
		Prophylaxis Against D Alloimmunization
	BLOOD COMPONENT THERAPY
	PLATELET REFRACTORINESS
	ADVERSE EFFECTS OF TRANSFUSION
		Bacterial Contamination
		Transfusion-Associated Graft-Versus-Host Disease
		Hemoglobinuria and Hemoglobinemia
		Transfusion-Related Acute Lung Injury
		Transfusion Transmission of Parasites
	THERAPEUTIC APHERESIS
		Peripheral Blood Stem Cell Collection
		Thrombotic Thrombocytopenic Purpura
	CELLULAR THERAPY
		Bone Marrow
		Peripheral Blood Stem Cells
		Cord Blood
		CD34 Selection
		Extracorporeal Photopheresis
	REFERENCES
INDEX
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